#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
MAGI2	9863	broad.mit.edu	37	7	77797325	77797325	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:77797325C>T	ENST00000354212.4	-	15	2757	c.2504G>A	c.(2503-2505)gGc>gAc	p.G835D	MAGI2_ENST00000522391.1_Missense_Mutation_p.G835D|MAGI2_ENST00000419488.1_Missense_Mutation_p.G821D	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	835	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTGGGTTTTGCCGGCTACTGG	0.537																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(2503-2505)gGc>gAc		membrane associated guanylate kinase, WW and PDZ domain containing 2							165.0	148.0	154.0					7																	77797325		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77797325C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2504G>A	7.37:g.77797325C>T	ENSP00000346151:p.Gly835Asp		Somatic				MAGI2_ENST00000522391.1_Missense_Mutation_p.G835D|MAGI2_ENST00000419488.1_Missense_Mutation_p.G821D	p.G835D	NM_012301.3	NP_036433.2	WXS	Illumina GAIIx	Phase_I	Q86UL8	MAGI2_HUMAN			15	2757	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	835			PDZ 4.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.2504G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441528	0.96187	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.52983	0.64;0.78;0.78	5.96	5.96	0.96718	PDZ/DHR/GLGF (4);	0.000000	0.37261	U	0.002175	T	0.62612	0.2442	L	0.39692	1.235	0.80722	D	1	D;D;D	0.76494	0.978;0.999;0.993	P;D;P	0.73708	0.831;0.981;0.831	T	0.60459	-0.7259	10	0.54805	T	0.06	.	19.4074	0.94653	0.0:1.0:0.0:0.0	.	835;821;835	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	D	821;835;835;835	ENSP00000405766:G821D;ENSP00000346151:G835D;ENSP00000428389:G835D	ENSP00000346151:G835D	G	-	2	0	MAGI2	77635261	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.831000	0.97527	0.650000	0.86243	GGC		0.537	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		4	289	0	0	0	1	0	4	289				
WDR17	116966	broad.mit.edu	37	4	177041035	177041035	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:177041035A>T	ENST00000280190.4	+	5	553	c.397A>T	c.(397-399)Agt>Tgt	p.S133C	WDR17_ENST00000393643.2_Missense_Mutation_p.S109C|WDR17_ENST00000507824.2_Missense_Mutation_p.S133C|WDR17_ENST00000508596.1_Missense_Mutation_p.S109C			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	133										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGCTTCTCTTAGTTGGTGCTG	0.408																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(325-327)Agt>Tgt		WD repeat domain 17							153.0	146.0	148.0					4																	177041035		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177041035A>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.397A>T	4.37:g.177041035A>T	ENSP00000280190:p.Ser133Cys		Somatic				WDR17_ENST00000507824.2_Missense_Mutation_p.S133C|WDR17_ENST00000280190.4_Missense_Mutation_p.S133C|WDR17_ENST00000508596.1_Missense_Mutation_p.S109C	p.S109C	NM_170710.4	NP_733828.2	WXS	Illumina GAIIx	Phase_I	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	4	577	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	133					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.325A>T	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.465|7.465	0.645481|0.645481	0.14451|0.14451	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000505894|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|T;T;T	.|0.66638	.|-0.22;-0.22;-0.22	5.18|5.18	1.18|1.18	0.20946|0.20946	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.088892	.|0.85682	.|D	.|0.000000	T|T	0.65512|0.65512	0.2698|0.2698	L|L	0.53249|0.53249	1.67|1.67	0.42344|0.42344	D|D	0.99234|0.99234	.|D;D	.|0.67145	.|0.991;0.996	.|P;P	.|0.54706	.|0.759;0.759	T|T	0.61222|0.61222	-0.7106|-0.7106	6|10	0.48119|0.40728	T|T	0.1|0.16	-4.1233|-4.1233	5.4081|5.4081	0.16332|0.16332	0.6698:0.0:0.2081:0.1221|0.6698:0.0:0.2081:0.1221	.|.	.|109;133	.|E7EQX0;Q8IZU2	.|.;WDR17_HUMAN	F|C	6|109;109;133;133	.|ENSP00000422763:S109C;ENSP00000377258:S109C;ENSP00000280190:S133C	ENSP00000426847:L6F|ENSP00000280190:S133C	L|S	+|+	3|1	2|0	WDR17|WDR17	177278029|177278029	1.000000|1.000000	0.71417|0.71417	0.831000|0.831000	0.32960|0.32960	0.056000|0.056000	0.15407|0.15407	4.037000|4.037000	0.57311|0.57311	0.230000|0.230000	0.21059|0.21059	0.533000|0.533000	0.62120|0.62120	TTA|AGT		0.408	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			6	262	0	0	0	1	0	6	262				
TDRD10	126668	broad.mit.edu	37	1	154493879	154493879	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:154493879G>A	ENST00000368480.3	+	6	378	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	TDRD10_ENST00000368482.4_Missense_Mutation_p.R98Q|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	98	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTCCACAAGCGAAAACTGTTC	0.507																																						ENST00000368482.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(292-294)cGa>cAa		tudor domain containing 10							156.0	166.0	162.0					1																	154493879		2203	4300	6503	SO:0001583	missense	126668						nucleotide binding|RNA binding	g.chr1:154493879G>A	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.293G>A	1.37:g.154493879G>A	ENSP00000357465:p.Arg98Gln		Somatic				TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Missense_Mutation_p.R98Q	p.R98Q	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	WXS	Illumina GAIIx	Phase_I	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	1131	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		98			RRM.		A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	c.293G>A	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.121023	0.77436	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.12465	2.68;2.68	3.79	1.26	0.21427	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	T	0.05135	0.0137	M	0.67397	2.05	0.09310	N	1	B;B	0.17465	0.022;0.017	B;B	0.12156	0.007;0.004	T	0.36261	-0.9755	9	0.52906	T	0.07	0.0994	4.9199	0.13865	0.4451:0.0:0.5549:0.0	.	98;98	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	Q	98	ENSP00000357467:R98Q;ENSP00000357465:R98Q	ENSP00000357465:R98Q	R	+	2	0	TDRD10	152760503	0.000000	0.05858	0.000000	0.03702	0.849000	0.48306	0.035000	0.13797	0.107000	0.17824	0.557000	0.71058	CGA		0.507	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		101	383	0	0	0	1	0	101	383				
PPP3CC	5533	broad.mit.edu	37	8	22370804	22370804	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:22370804A>T	ENST00000240139.5	+	6	957		c.e6-1		PPP3CC_ENST00000289963.8_Splice_Site|PPP3CC_ENST00000518852.1_Splice_Site|PPP3CC_ENST00000397775.3_Splice_Site	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme						apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TGTGTCTTCTAGTTAGACAGG	0.448																																						ENST00000240139.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.e6-1		protein phosphatase 3, catalytic subunit, gamma isozyme							145.0	141.0	142.0					8																	22370804		2203	4300	6503	SO:0001630	splice_region_variant	5533				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity	g.chr8:22370804A>T		CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9316	protein-coding gene	gene with protein product	"""calcineurin A gamma"", ""protein phosphatase 2B, catalytic subunit, gamma isoform"""	114107	"""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"""			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.631-1A>T	8.37:g.22370804A>T			Somatic				PPP3CC_ENST00000289963.8_Splice_Site|PPP3CC_ENST00000518852.1_Splice_Site|PPP3CC_ENST00000397775.3_Splice_Site		NM_005605.4	NP_005596.2	WXS	Illumina GAIIx	Phase_I	P48454	PP2BC_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)	6	957	+		Prostate(55;0.104)						B4DRT5|Q9BSS6|Q9H4M5	Splice_Site	SNP	ENST00000240139.5	37		CCDS34859.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690626	0.48097	.	.	ENSG00000120910	ENST00000518852;ENST00000240139;ENST00000289963;ENST00000397775;ENST00000522034;ENST00000521651;ENST00000523620	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6574	0.17650	0.7384:0.1736:0.0881:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP3CC	22426749	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	9.287000	0.95975	2.046000	0.60703	0.482000	0.46254	.		0.448	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1	NM_005605	Intron	6	295	0	0	0	1	0	6	295				
ZBTB10	65986	broad.mit.edu	37	8	81399984	81399984	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:81399984T>C	ENST00000430430.1	+	2	1718	c.939T>C	c.(937-939)tcT>tcC	p.S313S	Y_RNA_ENST00000605948.1_RNA|ZBTB10_ENST00000379091.4_Intron|ZBTB10_ENST00000426744.2_Silent_p.S313S|ZBTB10_ENST00000455036.3_Silent_p.S313S	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			ACCACGTCTCTACCGAGCACA	0.537																																						ENST00000430430.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20						c.(937-939)tcT>tcC		zinc finger and BTB domain containing 10							55.0	60.0	58.0					8																	81399984		2007	4172	6179	SO:0001819	synonymous_variant	65986				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:81399984T>C	AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.939T>C	8.37:g.81399984T>C			Somatic				ZBTB10_ENST00000426744.2_Silent_p.S313S|ZBTB10_ENST00000379091.4_Intron|ZBTB10_ENST00000455036.3_Silent_p.S313S	p.S313S	NM_001277145.1	NP_001264074.1	WXS	Illumina GAIIx	Phase_I	Q96DT7	ZBT10_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)		2	1718	+	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		313					A4FVD0|Q86W96|Q8IXI9|Q96MH9	Silent	SNP	ENST00000430430.1	37	c.939T>C	CCDS47880.1																																																																																				0.537	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929		18	95	0	0	0	1	0	18	95				
FILIP1	27145	broad.mit.edu	37	6	76023992	76023992	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:76023992A>T	ENST00000237172.7	-	5	1886	c.1556T>A	c.(1555-1557)aTa>aAa	p.I519K	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.I420K|FILIP1_ENST00000393004.2_Missense_Mutation_p.I519K	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	519										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCTTGTTTTATTTTTTCCAT	0.318																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(1555-1557)aTa>aAa		filamin A interacting protein 1							56.0	59.0	58.0					6																	76023992		2202	4297	6499	SO:0001583	missense	27145							g.chr6:76023992A>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.1556T>A	6.37:g.76023992A>T	ENSP00000237172:p.Ile519Lys		Somatic				FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.I519K|FILIP1_ENST00000370020.1_Missense_Mutation_p.I420K	p.I519K			WXS	Illumina GAIIx	Phase_I	Q7Z7B0	FLIP1_HUMAN			5	1777	-			519					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.1556T>A	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.888660	0.52014	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.17691	2.26;2.26;2.27	5.95	5.95	0.96441	.	0.100785	0.64402	D	0.000002	T	0.11067	0.0270	L	0.53249	1.67	0.80722	D	1	P;P;P	0.39940	0.627;0.57;0.696	B;B;B	0.42030	0.198;0.206;0.373	T	0.08186	-1.0734	10	0.14252	T	0.57	-24.9616	16.4237	0.83790	1.0:0.0:0.0:0.0	.	519;519;519	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	K	519;519;420	ENSP00000376728:I519K;ENSP00000237172:I519K;ENSP00000359037:I420K	ENSP00000237172:I519K	I	-	2	0	FILIP1	76080712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.316000	0.72857	2.279000	0.76181	0.533000	0.62120	ATA		0.318	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		4	81	0	0	0	1	0	4	81				
TOP2A	7153	broad.mit.edu	37	17	38548835	38548835	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:38548835A>T	ENST00000423485.1	-	30	4123		c.e30+1		Y_RNA_ENST00000410949.1_RNA	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa						apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AGTTTTCCTTACTTGCTGCTC	0.413																																						ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.e30+1		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						225.0	205.0	211.0					17																	38548835		1885	4108	5993	SO:0001630	splice_region_variant	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38548835A>T		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.3964+1T>A	17.37:g.38548835A>T			Somatic						NM_001067.3	NP_001058.2	WXS	Illumina GAIIx	Phase_I	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		30	4123	-		Breast(137;0.00328)						B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Splice_Site	SNP	ENST00000423485.1	37		CCDS45672.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863065	0.71949	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	.	.	.	5.78	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1088	0.53827	0.8711:0.0:0.0:0.1289	.	.	.	.	.	-1	.	.	.	-	.	.	TOP2A	35802361	1.000000	0.71417	0.976000	0.42696	0.873000	0.50193	8.114000	0.89570	1.082000	0.41137	0.533000	0.62120	.		0.413	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1		Intron	6	176	0	0	0	1	0	6	176				
TTN	7273	broad.mit.edu	37	2	179566270	179566270	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:179566270C>G	ENST00000591111.1	-	108	29856	c.29632G>C	c.(29632-29634)Gca>Cca	p.A9878P	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A8951P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A10195P|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33612	Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGGCACTGCTCTGATAGGC	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(30583-30585)Gca>Cca		titin							139.0	136.0	137.0					2																	179566270		1978	4188	6166	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179566270C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.29632G>C	2.37:g.179566270C>G	ENSP00000465570:p.Ala9878Pro		Somatic				TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A9878P|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A8951P	p.A10195P	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		110	30807	-			9878			Glu-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.30583G>C		.	.	.	.	.	.	.	.	.	.	C	17.81	3.481087	0.63849	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T	0.63913	-0.07	5.84	5.84	0.93424	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.77089	0.4079	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.987;0.998	T	0.78275	-0.2267	9	0.87932	D	0	.	15.6534	0.77115	0.0:1.0:0.0:0.0	.	9878;9878	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	P	8951;73	ENSP00000343764:A8951P	ENSP00000343764:A8951P	A	-	1	0	TTN	179274515	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.797000	0.47877	2.758000	0.94735	0.655000	0.94253	GCA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	132	0	0	0	1	0	27	132				
TAF2	6873	broad.mit.edu	37	8	120756635	120756635	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:120756635T>A	ENST00000378164.2	-	24	3407		c.e24-2		TAF2_ENST00000519355.1_5'Flank	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa						G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACTGGAAAACTAAAACACACA	0.378																																						ENST00000378164.2																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.e24-2		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							113.0	113.0	113.0					8																	120756635		2203	4300	6503	SO:0001630	splice_region_variant	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120756635T>A	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3109-2A>T	8.37:g.120756635T>A			Somatic						NM_003184.3	NP_003175.1	WXS	Illumina GAIIx	Phase_I	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		24	3407	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)							B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Splice_Site	SNP	ENST00000378164.2	37		CCDS34937.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.766990	0.49574	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8211	0.70074	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TAF2	120825816	1.000000	0.71417	0.991000	0.47740	0.672000	0.39443	7.681000	0.84073	2.096000	0.63516	0.383000	0.25322	.		0.378	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184	Intron	5	263	0	0	0	1	0	5	263				
SPZ1	84654	broad.mit.edu	37	5	79617108	79617108	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:79617108T>A	ENST00000296739.4	+	1	1319	c.1074T>A	c.(1072-1074)taT>taA	p.Y358*		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	358					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AGATAAACTATAAACAGGACA	0.373																																						ENST00000296739.4																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26						c.(1072-1074)taT>taA		spermatogenic leucine zipper 1							80.0	76.0	77.0					5																	79617108		1841	4092	5933	SO:0001587	stop_gained	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79617108T>A		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.1074T>A	5.37:g.79617108T>A	ENSP00000369611:p.Tyr358*		Somatic					p.Y358*	NM_032567.3	NP_115956.3	WXS	Illumina GAIIx	Phase_I	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	1319	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	358					B2RA21|Q8N4P1|Q8N7E9	Nonsense_Mutation	SNP	ENST00000296739.4	37	c.1074T>A	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.067698	0.76301	.	.	ENSG00000164299	ENST00000296739	.	.	.	4.04	-5.04	0.02964	.	3.101490	0.00864	N	0.001952	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.2823	1.413	0.02295	0.121:0.2512:0.2768:0.3511	.	.	.	.	X	358	.	ENSP00000369611:Y358X	Y	+	3	2	SPZ1	79652864	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-4.209000	0.00273	-0.950000	0.03659	-0.472000	0.04984	TAT		0.373	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		5	115	0	0	0	1	0	5	115				
PRR11	55771	broad.mit.edu	37	17	57272789	57272789	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:57272789T>C	ENST00000262293.4	+	7	1154	c.842T>C	c.(841-843)gTt>gCt	p.V281A	CTD-2510F5.6_ENST00000577660.1_5'Flank	NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	281						cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCGACTCGAGTTACAAACGTC	0.393																																						ENST00000262293.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16						c.(841-843)gTt>gCt		proline rich 11							134.0	106.0	115.0					17																	57272789		2203	4300	6503	SO:0001583	missense	55771							g.chr17:57272789T>C		CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.842T>C	17.37:g.57272789T>C	ENSP00000262293:p.Val281Ala		Somatic					p.V281A	NM_018304.3	NP_060774.2	WXS	Illumina GAIIx	Phase_I	Q96HE9	PRR11_HUMAN			7	1154	+	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		281					Q9NUZ7|Q9NXE9	Missense_Mutation	SNP	ENST00000262293.4	37	c.842T>C	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808043	0.70797	.	.	ENSG00000068489	ENST00000262293	.	.	.	4.82	4.82	0.62117	.	0.108239	0.40554	N	0.001070	T	0.49966	0.1588	L	0.57536	1.79	0.32773	N	0.503546	P	0.49961	0.93	P	0.47915	0.561	T	0.63778	-0.6560	9	0.39692	T	0.17	-8.1254	12.0427	0.53462	0.0:0.0:0.0:1.0	.	281	Q96HE9	PRR11_HUMAN	A	281	.	ENSP00000262293:V281A	V	+	2	0	PRR11	54627571	0.903000	0.30736	1.000000	0.80357	0.993000	0.82548	1.488000	0.35551	1.922000	0.55676	0.533000	0.62120	GTT		0.393	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	NM_018304		3	131	0	0	0	1	0	3	131				
ELK4	2005	broad.mit.edu	37	1	205589422	205589422	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:205589422G>C	ENST00000357992.4	-	3	1091	c.752C>G	c.(751-753)aCc>aGc	p.T251S	ELK4_ENST00000468523.1_5'Flank|ELK4_ENST00000289703.4_Missense_Mutation_p.T251S	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	251					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GGGTGGTGTGGTGGCAAAAGC	0.502			T	SLC45A3	prostate																																	ENST00000357992.4				Dom	yes		1	1q32	2005	T	"""ELK4, ETS-domain protein (SRF accessory protein 1)"""			E	SLC45A3		prostate	SLC45A3/ELK4(18)	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12						c.(751-753)aCc>aGc		ELK4, ETS-domain protein (SRF accessory protein 1)							150.0	156.0	154.0					1																	205589422		2203	4300	6503	SO:0001583	missense	2005							g.chr1:205589422G>C	M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.752C>G	1.37:g.205589422G>C	ENSP00000350681:p.Thr251Ser		Somatic				ELK4_ENST00000289703.4_Missense_Mutation_p.T251S	p.T251S	NM_001973.3	NP_001964.2	WXS	Illumina GAIIx	Phase_I			BRCA - Breast invasive adenocarcinoma(75;0.0908)		3	1091	-	Breast(84;0.07)							P28323|Q6GSJ2	Missense_Mutation	SNP	ENST00000357992.4	37	c.752C>G	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.568872	0.00133	.	.	ENSG00000158711	ENST00000539916;ENST00000357992;ENST00000289703	T;T	0.29397	1.83;1.57	5.64	1.4	0.22301	.	1.060270	0.07171	N	0.852441	T	0.14570	0.0352	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.0	T	0.20405	-1.0276	10	0.02654	T	1	.	10.7848	0.46398	0.0:0.4341:0.432:0.1339	.	251;251	P28324-2;P28324	.;ELK4_HUMAN	S	341;251;251	ENSP00000350681:T251S;ENSP00000289703:T251S	ENSP00000289703:T251S	T	-	2	0	ELK4	203856045	0.110000	0.22057	0.000000	0.03702	0.006000	0.05464	1.256000	0.32921	0.005000	0.14708	0.655000	0.94253	ACC		0.502	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1	NM_021795		13	566	0	0	0	1	0	13	566				
MUC17	140453	broad.mit.edu	37	7	100681278	100681278	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:100681278A>C	ENST00000306151.4	+	3	6645	c.6581A>C	c.(6580-6582)aAt>aCt	p.N2194T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2194	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGTGACCAATTCTACTGAA	0.493																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6580-6582)aAt>aCt		mucin 17, cell surface associated							284.0	287.0	286.0					7																	100681278		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681278A>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6581A>C	7.37:g.100681278A>C	ENSP00000302716:p.Asn2194Thr		Somatic					p.N2194T	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	6645	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2194			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6581A>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.953	-0.705705	0.03255	.	.	ENSG00000169876	ENST00000306151	T	0.02446	4.29	1.5	0.534	0.17127	.	.	.	.	.	T	0.00936	0.0031	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46938	-0.9155	9	0.02654	T	1	.	2.322	0.04213	0.3021:0.5031:0.0:0.1948	.	2194	Q685J3	MUC17_HUMAN	T	2194	ENSP00000302716:N2194T	ENSP00000302716:N2194T	N	+	2	0	MUC17	100467998	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.070000	0.01380	-0.008000	0.14320	-2.071000	0.00384	AAT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	556	0	0	0	1	0	5	556				
TRAV2	28691	broad.mit.edu	37	14	22180791	22180791	+	RNA	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:22180791A>T	ENST00000390424.2	+	0	74				AE000658.31_ENST00000542992.1_lincRNA					T cell receptor alpha variable 2																		TGTTTTCTGTAGTTGCAGAAA	0.418																																						ENST00000390424.2																			0																				81.0	76.0	77.0					14																	22180791		1864	4108	5972			28691							g.chr14:22180791A>T	AE000658		14q11.2	2012-02-07			ENSG00000211776	ENSG00000211776		"""T cell receptors / TRA locus"""	12116	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168980		14.37:g.22180791A>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	74	+									RNA	SNP	ENST00000390424.2	37																																																																																						0.418	TRAV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401875.1	NG_001332		8	158	0	0	0	1	0	8	158				
SHPRH	257218	broad.mit.edu	37	6	146244777	146244777	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:146244777A>T	ENST00000367505.2	-	18	3810		c.e18+1		SHPRH_ENST00000438092.2_Splice_Site|SHPRH_ENST00000275233.7_Splice_Site|SHPRH_ENST00000367503.3_Splice_Site			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase						DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTGTTTTCTTACTTCTCTGAC	0.323																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.e18+1		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							148.0	132.0	137.0					6																	146244777		1817	4085	5902	SO:0001630	splice_region_variant	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146244777A>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3545+1T>A	6.37:g.146244777A>T			Somatic				SHPRH_ENST00000438092.2_Splice_Site|SHPRH_ENST00000275233.7_Splice_Site|SHPRH_ENST00000367505.2_Splice_Site		NM_001042683.2	NP_001036148.2	WXS	Illumina GAIIx	Phase_I	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	18	3971	-		Ovarian(120;0.0365)						Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Splice_Site	SNP	ENST00000367505.2	37		CCDS43513.2	.	.	.	.	.	.	.	.	.	.	A	22.3	4.265911	0.80358	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8753	0.70491	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SHPRH	146286470	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.207000	0.95064	1.923000	0.55706	0.482000	0.46254	.		0.323	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	Intron	4	81	0	0	0	1	0	4	81				
IFT46	56912	broad.mit.edu	37	11	118428460	118428460	+	Intron	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:118428460T>C	ENST00000264021.3	-	4	464				IFT46_ENST00000264020.2_Missense_Mutation_p.H64R|IFT46_ENST00000530872.1_Missense_Mutation_p.H64R|IFT46_ENST00000527868.1_5'Flank	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46						cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TACCTTTCTGTGCTTCTGGCT	0.453																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(190-192)cAc>cGc		intraflagellar transport 46 homolog (Chlamydomonas)							166.0	154.0	158.0					11																	118428460		2200	4295	6495	SO:0001627	intron_variant	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118428460T>C	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"""Intraflagellar transport homologs"""	26146	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 32"""		"""chromosome 11 open reading frame 60"", ""intraflagellar transport 46 homolog (Chlamydomonas)"""	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.46-700A>G	11.37:g.118428460T>C			Somatic				IFT46_ENST00000530872.1_Missense_Mutation_p.H64R|IFT46_ENST00000264021.3_Intron	p.H64R	NM_020153.3	NP_064538.3	WXS	Illumina GAIIx	Phase_I	Q9NQC8	IFT46_HUMAN			4	568	-			15					A8K0F6|Q9H6V5	Missense_Mutation	SNP	ENST00000264021.3	37	c.191A>G	CCDS53718.1	.	.	.	.	.	.	.	.	.	.	T	6.489	0.458328	0.12342	.	.	ENSG00000118096	ENST00000264020;ENST00000530872;ENST00000534114	T;T;T	0.41400	1.0;2.42;2.42	4.71	-0.345	0.12624	.	1.521230	0.04008	N	0.297740	T	0.20333	0.0489	N	0.08118	0	0.21553	N	0.999648	B;B	0.14012	0.005;0.009	B;B	0.16722	0.011;0.016	T	0.11179	-1.0598	10	0.16420	T	0.52	-0.1114	2.6344	0.04954	0.44:0.0:0.1983:0.3617	.	64;64	E9PR06;Q9NQC8-2	.;.	R	64	ENSP00000264020:H64R;ENSP00000432384:H64R;ENSP00000432982:H64R	ENSP00000264020:H64R	H	-	2	0	IFT46	117933670	0.936000	0.31750	0.681000	0.30009	0.307000	0.27823	0.429000	0.21412	-0.223000	0.09943	-0.527000	0.04329	CAC		0.453	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		3	181	0	0	0	1	0	3	181				
ST18	9705	broad.mit.edu	37	8	53084356	53084356	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:53084356A>T	ENST00000276480.7	-	10	1748	c.1065T>A	c.(1063-1065)aaT>aaA	p.N355K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	355					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCTTACGTTTATTGTTAAAGA	0.363																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1063-1065)aaT>aaA		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							111.0	107.0	108.0					8																	53084356		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53084356A>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1065T>A	8.37:g.53084356A>T	ENSP00000276480:p.Asn355Lys		Somatic					p.N355K	NM_014682.2	NP_055497.1	WXS	Illumina GAIIx	Phase_I	O60284	ST18_HUMAN			10	1748	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	355					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1065T>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	A	14.06	2.423584	0.43020	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.42900	0.99;0.96	5.72	-3.27	0.05048	.	0.552265	0.21965	N	0.066538	T	0.25121	0.0610	N	0.24115	0.695	0.33015	D	0.528025	B	0.33964	0.434	B	0.35413	0.202	T	0.23797	-1.0178	10	0.17832	T	0.49	-7.8588	13.8384	0.63424	0.1148:0.1185:0.7667:0.0	.	355	O60284	ST18_HUMAN	K	355	ENSP00000276480:N355K;ENSP00000428521:N355K	ENSP00000276480:N355K	N	-	3	2	ST18	53246909	1.000000	0.71417	0.050000	0.19076	0.764000	0.43329	0.934000	0.28910	-1.100000	0.03030	-0.290000	0.09829	AAT		0.363	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			6	359	0	0	0	1	0	6	359				
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91						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)					GTTTTTCTTTAGTATCTGGAG	0.393																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.e7-1		coiled-coil domain containing 91							191.0	185.0	187.0					12																	28458580		2203	4300	6503	SO:0001630	splice_region_variant	55297				protein transport	Golgi apparatus|membrane		g.chr12:28458580A>T	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.110-1A>T	12.37:g.28458580A>T			Somatic				CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q7Z6B0	CCD91_HUMAN			7	528	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)							B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Splice_Site	SNP	ENST00000545336.1	37		CCDS8716.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368066	0.24771	.	.	ENSG00000123106	ENST00000538586;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000543534;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0599	0.47942	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC91	28349847	0.998000	0.40836	0.923000	0.36655	0.233000	0.25261	4.431000	0.59915	2.172000	0.68678	0.477000	0.44152	.		0.393	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318	Intron	12	428	0	0	0	1	0	12	428				
LETMD1	25875	broad.mit.edu	37	12	51447559	51447559	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:51447559A>T	ENST00000262055.4	+	4	429		c.e4-1		LETMD1_ENST00000550929.1_Splice_Site|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000418425.2_Splice_Site|LETMD1_ENST00000380123.2_Intron	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1							integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						ATTTCTGCTTAGTTCCGCCAA	0.403																																						ENST00000418425.2																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						c.e4-1		LETM1 domain containing 1							288.0	248.0	262.0					12																	51447559		2203	4300	6503	SO:0001630	splice_region_variant	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51447559A>T	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.391-1A>T	12.37:g.51447559A>T			Somatic				LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000380123.2_Intron|LETMD1_ENST00000262055.4_Splice_Site|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000550929.1_Splice_Site		NM_001243689.1	NP_001230618.1	WXS	Illumina GAIIx	Phase_I	Q6P1Q0	LTMD1_HUMAN			4	448	+								A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Splice_Site	SNP	ENST00000262055.4	37		CCDS8806.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.207058	0.79127	.	.	ENSG00000050426	ENST00000551477;ENST00000550755;ENST00000550929;ENST00000262055;ENST00000548209;ENST00000550814;ENST00000418425	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5147	0.67811	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LETMD1	49733826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.747000	0.74872	2.330000	0.79161	0.528000	0.53228	.		0.403	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416	Intron	10	678	0	0	0	1	0	10	678				
TNKS	8658	broad.mit.edu	37	8	9610052	9610052	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:9610052A>T	ENST00000310430.6	+	20	3096		c.e20-1		TNKS_ENST00000518281.1_Splice_Site	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase						mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TTTCTGTTTTAGTTGCTGGTC	0.343																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.e20-1		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							73.0	76.0	75.0					8																	9610052		2203	4300	6503	SO:0001630	splice_region_variant	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9610052A>T	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3071-1A>T	8.37:g.9610052A>T			Somatic				TNKS_ENST00000518281.1_Splice_Site		NM_003747.2	NP_003738.2	WXS	Illumina GAIIx	Phase_I	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	20	3096	+								O95272|Q4G0F2	Splice_Site	SNP	ENST00000310430.6	37		CCDS5974.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.322727	0.41096	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7214	0.77713	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TNKS	9647462	1.000000	0.71417	0.985000	0.45067	0.179000	0.23085	9.157000	0.94714	2.116000	0.64780	0.528000	0.53228	.		0.343	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747	Intron	7	43	0	0	0	1	0	7	43				
ZNF343	79175	broad.mit.edu	37	20	2463870	2463870	+	Silent	SNP	A	A	G	rs539064280		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:2463870A>G	ENST00000278772.4	-	6	2224	c.1737T>C	c.(1735-1737)tgT>tgC	p.C579C	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	579					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CACACTCCCTACAAACATAAT	0.512																																						ENST00000278772.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						c.(1735-1737)tgT>tgC		zinc finger protein 343							98.0	83.0	88.0					20																	2463870		2203	4300	6503	SO:0001819	synonymous_variant	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2463870A>G	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1737T>C	20.37:g.2463870A>G			Somatic				RP4-734P14.4_ENST00000461548.1_Intron	p.C579C	NM_024325.4	NP_077301.4	WXS	Illumina GAIIx	Phase_I	Q6P1L6	ZN343_HUMAN			6	2224	-			579					Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Silent	SNP	ENST00000278772.4	37	c.1737T>C	CCDS13028.1																																																																																				0.512	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		3	233	0	0	0	1	0	3	233				
MEIS1	4211	broad.mit.edu	37	2	66795797	66795797	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:66795797A>T	ENST00000272369.9	+	11	1481		c.e11-1		MEIS1_ENST00000407092.2_Splice_Site|MEIS1_ENST00000409517.1_Splice_Site|MEIS1_ENST00000488550.1_Splice_Site|MEIS1_ENST00000444274.2_Splice_Site|MEIS1_ENST00000398506.2_Splice_Site|MEIS1_ENST00000495021.2_Splice_Site	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1						angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						GTACTTTTGTAGTAAGTCAAG	0.413																																						ENST00000488550.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						c.e11-1		Meis homeobox 1							199.0	189.0	192.0					2																	66795797		1854	4097	5951	SO:0001630	splice_region_variant	4211						sequence-specific DNA binding transcription factor activity	g.chr2:66795797A>T		CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.1025-1A>T	2.37:g.66795797A>T			Somatic				MEIS1_ENST00000272369.9_Splice_Site|MEIS1_ENST00000407092.2_Splice_Site|MEIS1_ENST00000398506.2_Splice_Site|MEIS1_ENST00000444274.2_Splice_Site|MEIS1_ENST00000409517.1_Splice_Site|MEIS1_ENST00000495021.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	O00470	MEIS1_HUMAN			11	1323	+								A8MV50	Splice_Site	SNP	ENST00000272369.9	37		CCDS46309.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.660542	0.88154	.	.	ENSG00000143995	ENST00000272369;ENST00000407092;ENST00000398506;ENST00000495021;ENST00000402908;ENST00000409517;ENST00000450027	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.692	0.77461	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEIS1	66649301	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.339000	0.96797	2.119000	0.64992	0.460000	0.39030	.		0.413	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398	Intron	6	425	0	0	0	1	0	6	425				
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					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)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52.0	62.0	59.0					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A			Somatic				NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	WXS	Illumina GAIIx	Phase_I	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		3	39	0	0	0	1	0	3	39				
TBC1D8B	54885	broad.mit.edu	37	X	106109045	106109045	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:106109045A>T	ENST00000357242.5	+	16	2618	c.2444A>T	c.(2443-2445)tAt>tTt	p.Y815F	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Y809F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	815							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTATCTTGTTATTGGTGTTTG	0.343																																						ENST00000357242.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2443-2445)tAt>tTt		TBC1 domain family, member 8B (with GRAM domain)							128.0	118.0	121.0					X																	106109045		2203	4300	6503	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106109045A>T	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2444A>T	X.37:g.106109045A>T	ENSP00000349781:p.Tyr815Phe		Somatic				TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Y809F	p.Y815F	NM_017752.2	NP_060222.2	WXS	Illumina GAIIx	Phase_I	Q0IIM8	TBC8B_HUMAN			16	2618	+			815					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.2444A>T	CCDS14522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.420514|4.420514	0.83559|0.83559	.|.	.|.	ENSG00000133138|ENSG00000133138	ENST00000431860|ENST00000357242;ENST00000276175;ENST00000394972	.|T;T	.|0.59364	.|0.27;0.27	5.59|5.59	5.59|5.59	0.84812|0.84812	.|EF-hand-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76076|0.76076	0.3937|0.3937	M|M	0.83483|0.83483	2.645|2.645	0.53005|0.53005	D|D	0.999963|0.999963	.|D	.|0.71674	.|0.998	.|D	.|0.77004	.|0.989	T|T	0.76528|0.76528	-0.2926|-0.2926	5|10	.|0.33141	.|T	.|0.24	-5.6795|-5.6795	13.501|13.501	0.61454|0.61454	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|815	.|Q0IIM8	.|TBC8B_HUMAN	F|F	77|815;809;77	.|ENSP00000349781:Y815F;ENSP00000276175:Y809F	.|ENSP00000276175:Y809F	L|Y	+|+	3|2	2|0	TBC1D8B|TBC1D8B	105995701|105995701	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	8.962000|8.962000	0.93254|0.93254	1.868000|1.868000	0.54150|0.54150	0.412000|0.412000	0.27726|0.27726	TTA|TAT		0.343	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		16	291	0	0	0	1	0	16	291				
SLC43A3	29015	broad.mit.edu	37	11	57182112	57182112	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:57182112A>T	ENST00000395123.2	-	11	1340	c.1036T>A	c.(1036-1038)Tac>Aac	p.Y346N	SLC43A3_ENST00000533524.1_Missense_Mutation_p.Y359N|SLC43A3_ENST00000395124.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000529554.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000352187.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000528098.1_5'Flank	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	346					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TCCTTCTGGTACTTCTGTTTA	0.547																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(1036-1038)Tac>Aac		solute carrier family 43, member 3							161.0	158.0	159.0					11																	57182112		2201	4296	6497	SO:0001583	missense	29015				transmembrane transport	integral to membrane		g.chr11:57182112A>T	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.1036T>A	11.37:g.57182112A>T	ENSP00000378555:p.Tyr346Asn		Somatic				SLC43A3_ENST00000395124.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000352187.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000533524.1_Missense_Mutation_p.Y359N|SLC43A3_ENST00000529554.1_Missense_Mutation_p.Y346N	p.Y346N	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	WXS	Illumina GAIIx	Phase_I	Q8NBI5	S43A3_HUMAN			11	1340	-			346					B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	37	c.1036T>A	CCDS7956.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.276931	0.59758	.	.	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	4.97	4.97	0.65823	Major facilitator superfamily domain, general substrate transporter (1);	0.201525	0.44285	D	0.000472	T	0.33352	0.0860	L	0.56769	1.78	0.34914	D	0.74777	B;P;B	0.38745	0.188;0.645;0.075	B;P;B	0.44422	0.166;0.449;0.102	T	0.45366	-0.9266	10	0.28530	T	0.3	-13.7562	8.1888	0.31354	0.8217:0.0:0.0:0.1783	.	359;346;346	E7EQD2;Q8NBI5;A8K2X6	.;S43A3_HUMAN;.	N	346;346;346;346;359	ENSP00000378555:Y346N;ENSP00000378556:Y346N;ENSP00000337561:Y346N;ENSP00000436254:Y346N;ENSP00000434515:Y359N	ENSP00000337561:Y346N	Y	-	1	0	SLC43A3	56938688	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	3.933000	0.56545	1.875000	0.54330	0.379000	0.24179	TAC		0.547	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		16	617	0	0	0	1	0	16	617				
MTM1	4534	broad.mit.edu	37	X	149814337	149814337	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:149814337C>T	ENST00000370396.2	+	9	914	c.860C>T	c.(859-861)gCc>gTc	p.A287V	MTM1_ENST00000542741.1_Missense_Mutation_p.A192V|MTM1_ENST00000543350.1_Missense_Mutation_p.A172V|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.A250V	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	287	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					AATGCAGTGGCCAACAAGGTG	0.383																																						ENST00000370396.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(859-861)gCc>gTc		myotubularin 1							95.0	81.0	86.0					X																	149814337		2203	4300	6503	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149814337C>T	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.860C>T	X.37:g.149814337C>T	ENSP00000359423:p.Ala287Val		Somatic				MTM1_ENST00000543350.1_Missense_Mutation_p.A172V|MTM1_ENST00000542741.1_Missense_Mutation_p.A192V|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.A250V	p.A287V	NM_000252.2	NP_000243.1	WXS	Illumina GAIIx	Phase_I	Q13496	MTM1_HUMAN			9	914	+	Acute lymphoblastic leukemia(192;6.56e-05)		287			Myotubularin phosphatase.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.860C>T	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707036	0.89018	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76	5.78	5.78	0.91487	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.049572	0.85682	N	0.000000	D	0.95449	0.8522	M	0.86573	2.825	0.80722	D	1	D;P	0.57257	0.979;0.769	P;B	0.60286	0.872;0.32	D	0.95044	0.8181	10	0.45353	T	0.12	.	19.0341	0.92970	0.0:1.0:0.0:0.0	.	250;287	B7Z491;Q13496	.;MTM1_HUMAN	V	287;192;172;250	ENSP00000359423:A287V;ENSP00000444015:A192V;ENSP00000439784:A172V;ENSP00000389157:A250V	ENSP00000359423:A287V	A	+	2	0	MTM1	149564995	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.782000	0.85680	2.444000	0.82710	0.594000	0.82650	GCC		0.383	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		4	504	0	0	0	1	0	4	504				
EPG5	57724	broad.mit.edu	37	18	43534834	43534834	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr18:43534834A>T	ENST00000282041.5	-	2	568	c.534T>A	c.(532-534)agT>agA	p.S178R		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	178					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGTCTTCTTTACTATTCTGAG	0.428																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(532-534)agT>agA		ectopic P-granules autophagy protein 5 homolog (C. elegans)							54.0	53.0	53.0					18																	43534834		1908	4114	6022	SO:0001583	missense	57724				autophagy			g.chr18:43534834A>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.534T>A	18.37:g.43534834A>T	ENSP00000282041:p.Ser178Arg		Somatic					p.S178R	NM_020964.2	NP_066015.2	WXS	Illumina GAIIx	Phase_I	Q9HCE0	EPG5_HUMAN			2	568	-			178					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.534T>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.195915	0.00299	.	.	ENSG00000152223	ENST00000282041	T	0.08896	3.04	4.76	-0.146	0.13432	.	0.281634	0.33591	N	0.004757	T	0.01976	0.0062	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43589	-0.9382	10	0.02654	T	1	-3.6568	3.4338	0.07438	0.147:0.382:0.3603:0.1107	.	178;178	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	R	178	ENSP00000282041:S178R	ENSP00000282041:S178R	S	-	3	2	EPG5	41788832	0.002000	0.14202	0.205000	0.23548	0.183000	0.23260	0.031000	0.13710	0.121000	0.18284	-1.524000	0.00929	AGT		0.428	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		6	54	0	0	0	1	0	6	54				
NOX4	50507	broad.mit.edu	37	11	89133249	89133249	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:89133249T>A	ENST00000263317.4	-	11	1250		c.e11-2		NOX4_ENST00000531342.1_Intron|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000535633.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTAATATACTAAAAAGCAAC	0.289																																						ENST00000535633.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.e11-2		NADPH oxidase 4							77.0	79.0	79.0					11																	89133249		2201	4296	6497	SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89133249T>A	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1012-2A>T	11.37:g.89133249T>A			Somatic				NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000532825.1_Splice_Site		NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	WXS	Illumina GAIIx	Phase_I	Q9NPH5	NOX4_HUMAN			11	1250	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)						A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	SNP	ENST00000263317.4	37		CCDS8285.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.949672	0.73787	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5774	0.68258	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOX4	88772897	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.989000	0.76219	1.914000	0.55421	0.459000	0.35465	.		0.289	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Intron	4	73	0	0	0	1	0	4	73				
PGBD3	267004	broad.mit.edu	37	10	50725150	50725150	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:50725150G>T	ENST00000374127.3	-	2	212	c.11C>A	c.(10-12)aCa>aAa	p.T4K	PGBD3_ENST00000603152.1_Missense_Mutation_p.T472K|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.T472K|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.T472K|PGBD3_ENST00000508005.2_Missense_Mutation_p.T4K	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	4										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						TAAACTTAGTGTTCGAGGCAT	0.378																																						ENST00000515869.1																			0											c.(1414-1416)aCa>aAa									93.0	95.0	94.0					10																	50725150		2202	4300	6502	SO:0001583	missense	101243544							g.chr10:50725150G>T	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.11C>A	10.37:g.50725150G>T	ENSP00000363242:p.Thr4Lys		Somatic				PGBD3_ENST00000508005.2_Missense_Mutation_p.T4K|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.T472K|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000603152.1_Missense_Mutation_p.T472K|PGBD3_ENST00000374127.3_Missense_Mutation_p.T4K	p.T472K	NM_001277059.1	NP_001263988.1	WXS	Illumina GAIIx	Phase_I					6	1535	-								B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	ENST00000374127.3	37	c.1415C>A	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542141	0.45280	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.13196	2.61;2.61;3.5;3.5	0.468	0.468	0.16732	.	.	.	.	.	T	0.11410	0.0278	N	0.08118	0	0.22081	N	0.999372	P;P	0.51653	0.947;0.947	P;P	0.55965	0.788;0.788	T	0.31724	-0.9933	8	0.31617	T	0.26	-24.3006	.	.	.	.	472;4	E7EV46;Q8N328	.;PGBD3_HUMAN	K	4;4;472;472	ENSP00000363242:T4K;ENSP00000426963:T4K;ENSP00000423550:T472K;ENSP00000387966:T472K	ENSP00000387966:T472K	T	-	2	0	PGBD3;RP11-123B3.6	50395156	0.048000	0.20356	0.948000	0.38648	0.945000	0.59286	0.186000	0.16978	0.488000	0.27723	0.491000	0.48974	ACA		0.378	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			7	308	1	0	8.12818e-05	1	8.42133e-05	7	308				
RNF17	56163	broad.mit.edu	37	13	25353868	25353868	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr13:25353868T>C	ENST00000255324.5	+	5	545	c.493T>C	c.(493-495)Tta>Cta	p.L165L	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.6_Silent_p.L165L|RNF17_ENST00000381921.1_Silent_p.L165L	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	165					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTTCGAACAGTTAAGCATTGC	0.363																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(493-495)Tta>Cta		ring finger protein 17							131.0	123.0	126.0					13																	25353868		2203	4300	6503	SO:0001819	synonymous_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25353868T>C	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.493T>C	13.37:g.25353868T>C			Somatic				RNF17_ENST00000381921.1_Silent_p.L165L|RNF17_ENST00000255325.5_Silent_p.L165L|RNF17_ENST00000255326.4_3'UTR	p.L165L	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	WXS	Illumina GAIIx	Phase_I	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	5	545	+		Lung SC(185;0.0225)|Breast(139;0.077)	165					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	c.493T>C	CCDS9308.2																																																																																				0.363	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		53	128	0	0	0	1	0	53	128				
OR11H6	122748	broad.mit.edu	37	14	20691896	20691896	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:20691896A>T	ENST00000315519.2	+	1	106	c.28A>T	c.(28-30)Act>Tct	p.T10S		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TTCTTTGGTTACTTCTGTTTT	0.378																																						ENST00000315519.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(28-30)Act>Tct		olfactory receptor, family 11, subfamily H, member 6							79.0	84.0	82.0					14																	20691896		2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20691896A>T		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.28A>T	14.37:g.20691896A>T	ENSP00000319071:p.Thr10Ser		Somatic					p.T10S	NM_001004480.1	NP_001004480.1	WXS	Illumina GAIIx	Phase_I	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	106	+	all_cancers(95;0.00108)		10					Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.28A>T	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	a	10.85	1.468050	0.26335	.	.	ENSG00000176219	ENST00000315519	T	0.00535	6.73	4.75	-6.88	0.01665	.	2.191770	0.02552	N	0.095761	T	0.00241	0.0007	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46303	-0.9201	10	0.05833	T	0.94	.	2.5026	0.04637	0.2086:0.3347:0.3273:0.1293	.	10	Q8NGC7	O11H6_HUMAN	S	10	ENSP00000319071:T10S	ENSP00000319071:T10S	T	+	1	0	OR11H6	19761736	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-0.817000	0.04472	-1.380000	0.02115	0.363000	0.22086	ACT		0.378	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			4	134	0	0	0	1	0	4	134				
OR4D11	219986	broad.mit.edu	37	11	59271141	59271141	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:59271141A>T	ENST00000313253.1	+	1	93	c.93A>T	c.(91-93)ttA>ttT	p.L31F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTTTTTTTATGTCTTGTGT	0.448																																						ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(91-93)ttA>ttT		olfactory receptor, family 4, subfamily D, member 11							113.0	107.0	109.0					11																	59271141		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271141A>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.93A>T	11.37:g.59271141A>T	ENSP00000320077:p.Leu31Phe		Somatic					p.L31F	NM_001004706.1	NP_001004706.1	WXS	Illumina GAIIx	Phase_I	Q8NGI4	OR4DB_HUMAN			1	93	+			31						Missense_Mutation	SNP	ENST00000313253.1	37	c.93A>T	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.463158	0.00171	.	.	ENSG00000176200	ENST00000313253	T	0.00012	9.3	5.45	0.808	0.18719	.	0.176500	0.27147	N	0.020708	T	0.00039	0.0001	N	0.00308	-1.67	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.37776	-0.9691	10	0.02654	T	1	-20.1355	9.01	0.36135	0.1516:0.0:0.6995:0.1488	.	31	Q8NGI4	OR4DB_HUMAN	F	31	ENSP00000320077:L31F	ENSP00000320077:L31F	L	+	3	2	OR4D11	59027717	0.000000	0.05858	0.001000	0.08648	0.133000	0.20885	-0.634000	0.05477	0.138000	0.18790	-0.371000	0.07208	TTA		0.448	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		10	238	0	0	0	1	0	10	238				
BTAF1	9044	broad.mit.edu	37	10	93757421	93757421	+	Silent	SNP	A	A	T	rs541583849		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:93757421A>T	ENST00000265990.6	+	25	3881	c.3573A>T	c.(3571-3573)gtA>gtT	p.V1191V	BTAF1_ENST00000544642.1_Silent_p.V19V	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1191					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTGTTCCTGTATTAGGAAGAA	0.388																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(3571-3573)gtA>gtT		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							162.0	131.0	141.0					10																	93757421		2203	4300	6503	SO:0001819	synonymous_variant	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93757421A>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3573A>T	10.37:g.93757421A>T			Somatic				BTAF1_ENST00000544642.1_Silent_p.V19V	p.V1191V	NM_003972.2	NP_003963.1	WXS	Illumina GAIIx	Phase_I	O14981	BTAF1_HUMAN			25	3881	+		Colorectal(252;0.0846)	1191					B4E0W6|O43578	Silent	SNP	ENST00000265990.6	37	c.3573A>T	CCDS7419.1																																																																																				0.388	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		4	99	0	0	0	1	0	4	99				
GNB3	2784	broad.mit.edu	37	12	6952544	6952544	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:6952544G>A	ENST00000229264.3	+	7	690	c.285G>A	c.(283-285)ctG>ctA	p.L95L	CDCA3_ENST00000604599.1_5'Flank|GNB3_ENST00000435982.2_Silent_p.L95L	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	95					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CCATCCCACTGCGCTCCTCCT	0.607																																						ENST00000229264.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.(283-285)ctG>ctA		guanine nucleotide binding protein (G protein), beta polypeptide 3							108.0	96.0	100.0					12																	6952544		2203	4300	6503	SO:0001819	synonymous_variant	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6952544G>A		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.285G>A	12.37:g.6952544G>A			Somatic				GNB3_ENST00000435982.2_Silent_p.L95L	p.L95L	NM_002075.2	NP_002066.1	WXS	Illumina GAIIx	Phase_I	P16520	GBB3_HUMAN			7	690	+			95					Q96B71|Q9BQC0	Silent	SNP	ENST00000229264.3	37	c.285G>A	CCDS8564.1																																																																																				0.607	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		4	279	0	0	0	1	0	4	279				
TMEM92	162461	broad.mit.edu	37	17	48351884	48351884	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:48351884G>A	ENST00000300433.3	+	2	132	c.22G>A	c.(22-24)Ggc>Agc	p.G8S	TMEM92_ENST00000507382.1_Missense_Mutation_p.G8S	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	8						integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						TTGGGTCCCCGGCCTCGCGCC	0.612																																						ENST00000300433.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						c.(22-24)Ggc>Agc		transmembrane protein 92							42.0	40.0	41.0					17																	48351884		2203	4300	6503	SO:0001583	missense	162461					integral to membrane		g.chr17:48351884G>A		CCDS11562.1	17q21.33	2005-12-13							26579	protein-coding gene	gene with protein product						12975309	Standard	NM_153229		Approved	FLJ33318	uc002iqn.2	Q6UXU6		ENST00000300433.3:c.22G>A	17.37:g.48351884G>A	ENSP00000300433:p.Gly8Ser		Somatic				TMEM92_ENST00000507382.1_Missense_Mutation_p.G8S	p.G8S	NM_001168215.1	NP_001161687.1	WXS	Illumina GAIIx	Phase_I	Q6UXU6	TMM92_HUMAN			2	132	+			8					Q8NBF0	Missense_Mutation	SNP	ENST00000300433.3	37	c.22G>A	CCDS11562.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810601	0.32053	.	.	ENSG00000167105	ENST00000300433;ENST00000507382	T;T	0.08458	3.09;3.09	4.33	0.856	0.19019	.	1.383730	0.04871	N	0.445972	T	0.05686	0.0149	L	0.41236	1.265	0.09310	N	1	P	0.42961	0.795	B	0.29176	0.099	T	0.35798	-0.9774	10	0.66056	D	0.02	-4.001	1.4057	0.02280	0.1314:0.1906:0.4205:0.2576	.	8	Q6UXU6	TMM92_HUMAN	S	8	ENSP00000300433:G8S;ENSP00000425144:G8S	ENSP00000300433:G8S	G	+	1	0	TMEM92	45706883	0.000000	0.05858	0.259000	0.24435	0.509000	0.34042	0.183000	0.16919	0.395000	0.25257	0.491000	0.48974	GGC		0.612	TMEM92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367053.2	NM_153229		3	51	0	0	0	1	0	3	51				
SLITRK4	139065	broad.mit.edu	37	X	142718022	142718022	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:142718022A>T	ENST00000381779.4	-	2	1128	c.903T>A	c.(901-903)acT>acA	p.T301T	SLITRK4_ENST00000356928.1_Silent_p.T301T|SLITRK4_ENST00000338017.4_Silent_p.T301T	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	301						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGTGGTTTAGTTACTAATC	0.453																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(901-903)acT>acA		SLIT and NTRK-like family, member 4							171.0	150.0	157.0					X																	142718022		2203	4300	6503	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142718022A>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.903T>A	X.37:g.142718022A>T			Somatic				SLITRK4_ENST00000338017.4_Silent_p.T301T|SLITRK4_ENST00000356928.1_Silent_p.T301T	p.T301T	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	WXS	Illumina GAIIx	Phase_I	Q8IW52	SLIK4_HUMAN			2	1128	-	Acute lymphoblastic leukemia(192;6.56e-05)		301					Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.903T>A	CCDS14679.1																																																																																				0.453	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		6	321	0	0	0	1	0	6	321				
AFF2	2334	broad.mit.edu	37	X	147743694	147743694	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:147743694T>A	ENST00000370460.2	+	3	925	c.446T>A	c.(445-447)aTa>aAa	p.I149K	AFF2_ENST00000342251.3_Missense_Mutation_p.I145K|AFF2_ENST00000370457.5_Missense_Mutation_p.I145K|AFF2_ENST00000370458.1_Missense_Mutation_p.I145K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	149					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCAACTCTAATACACAGCAAC	0.453																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(445-447)aTa>aAa		AF4/FMR2 family, member 2							189.0	183.0	185.0					X																	147743694		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147743694T>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.446T>A	X.37:g.147743694T>A	ENSP00000359489:p.Ile149Lys		Somatic				AFF2_ENST00000370457.5_Missense_Mutation_p.I145K|AFF2_ENST00000370458.1_Missense_Mutation_p.I145K|AFF2_ENST00000342251.3_Missense_Mutation_p.I145K	p.I149K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	WXS	Illumina GAIIx	Phase_I	P51816	AFF2_HUMAN			3	925	+	Acute lymphoblastic leukemia(192;6.56e-05)		149					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.446T>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.750251	0.49257	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.31	5.31	0.75309	.	0.271177	0.37483	N	0.002072	T	0.62792	0.2457	N	0.19112	0.55	0.80722	D	1	P;P;P;D;D;P	0.67145	0.949;0.949;0.949;0.995;0.996;0.839	P;P;P;D;D;B	0.78314	0.498;0.498;0.498;0.984;0.991;0.395	T	0.62296	-0.6884	10	0.33940	T	0.23	.	9.2095	0.37309	0.0:0.0824:0.0:0.9176	.	149;145;145;145;149;145	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	K	149;145;145;145	ENSP00000359489:I149K;ENSP00000359486:I145K;ENSP00000345459:I145K;ENSP00000359487:I145K	ENSP00000345459:I145K	I	+	2	0	AFF2	147551386	1.000000	0.71417	0.928000	0.36995	0.856000	0.48823	4.170000	0.58229	1.891000	0.54761	0.486000	0.48141	ATA		0.453	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		11	876	0	0	0	1	0	11	876				
NCAPG2	54892	broad.mit.edu	37	7	158447321	158447321	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:158447321T>C	ENST00000409423.1	-	23	2884	c.2712A>G	c.(2710-2712)caA>caG	p.Q904Q	NCAPG2_ENST00000449727.2_Silent_p.Q904Q|NCAPG2_ENST00000275830.10_Silent_p.Q696Q|NCAPG2_ENST00000409339.3_Silent_p.Q904Q|NCAPG2_ENST00000541468.1_Silent_p.Q405Q|NCAPG2_ENST00000356309.3_Silent_p.Q904Q	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	904					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GCTGTAAGAGTTGCATCTGAA	0.463																																						ENST00000409339.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(2710-2712)caA>caG		non-SMC condensin II complex, subunit G2							184.0	178.0	180.0					7																	158447321		1944	4150	6094	SO:0001819	synonymous_variant	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158447321T>C	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2712A>G	7.37:g.158447321T>C			Somatic				NCAPG2_ENST00000356309.3_Silent_p.Q904Q|NCAPG2_ENST00000409423.1_Silent_p.Q904Q|NCAPG2_ENST00000275830.10_Silent_p.Q696Q|NCAPG2_ENST00000541468.1_Silent_p.Q405Q|NCAPG2_ENST00000449727.2_Silent_p.Q904Q	p.Q904Q			WXS	Illumina GAIIx	Phase_I	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	22	2825	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	904					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Silent	SNP	ENST00000409423.1	37	c.2712A>G	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	T	0.020	-1.438998	0.01098	.	.	ENSG00000146918	ENST00000441982	.	.	.	5.79	-4.61	0.03380	.	.	.	.	.	T	0.17831	0.0428	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25745	-1.0123	4	.	.	.	-4.8509	2.0956	0.03667	0.169:0.2884:0.1117:0.4309	.	.	.	.	S	706	.	.	N	-	2	0	NCAPG2	158140082	0.005000	0.15991	0.006000	0.13384	0.001000	0.01503	-1.762000	0.01803	-0.910000	0.03847	-0.366000	0.07423	AAC		0.463	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		77	269	0	0	0	1	0	77	269				
TPT1	7178	broad.mit.edu	37	13	45914269	45914269	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr13:45914269A>G	ENST00000530705.1	-	3	453	c.153T>C	c.(151-153)aaT>aaC	p.N51N	TPT1-AS1_ENST00000517509.1_RNA|TPT1_ENST00000379055.1_Silent_p.N17N|TPT1_ENST00000379056.1_Silent_p.N17N|RP11-290D2.6_ENST00000610057.1_RNA|TPT1-AS1_ENST00000521336.1_RNA|TPT1-AS1_ENST00000520590.1_RNA|TPT1_ENST00000309246.5_Silent_p.N51N|TPT1-AS1_ENST00000520622.1_RNA|TPT1-AS1_ENST00000523506.1_RNA|TPT1_ENST00000379060.4_Silent_p.N39N|SNORA31_ENST00000362607.1_RNA|TPT1-AS1_ENST00000412946.2_RNA|TPT1-AS1_ENST00000520310.1_RNA|TPT1_ENST00000529421.1_5'UTR			P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	51					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ectoderm development (GO:2000384)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|regulation of apoptotic process (GO:0042981)|response to virus (GO:0009615)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|multivesicular body (GO:0005771)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		CAGCGGAGGCATTTCCACCAA	0.453																																						ENST00000379056.1																			0				lung(1)	1						c.(49-51)aaT>aaC		tumor protein, translationally-controlled 1							112.0	106.0	108.0					13																	45914269		2203	4300	6503	SO:0001819	synonymous_variant	7178				anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding	g.chr13:45914269A>G	X16064	CCDS9397.1, CCDS66538.1, CCDS73566.1	13q14	2010-08-18			ENSG00000133112	ENSG00000133112			12022	protein-coding gene	gene with protein product		600763				2813067, 10343127	Standard	NM_001286273		Approved	TCTP, fortilin	uc001uzy.1	P13693	OTTHUMG00000016845	ENST00000530705.1:c.153T>C	13.37:g.45914269A>G			Somatic				TPT1_ENST00000379055.1_Silent_p.N17N|TPT1_ENST00000530705.1_Silent_p.N51N|TPT1_ENST00000529421.1_5'UTR|TPT1_ENST00000309246.5_Silent_p.N51N|TPT1_ENST00000379060.4_Silent_p.N39N	p.N17N			WXS	Illumina GAIIx	Phase_I	P13693	TCTP_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)	2	221	-		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	51					B2R7E5|Q6YLS2|Q7Z4J4|Q8TBK7|Q96EE2|Q9UC70	Silent	SNP	ENST00000530705.1	37	c.51T>C	CCDS9397.1																																																																																				0.453	TPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044758.3			19	92	0	0	0	1	0	19	92				
SH3RF3	344558	broad.mit.edu	37	2	109964318	109964318	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:109964318G>T	ENST00000309415.6	+	2	762	c.762G>T	c.(760-762)ttG>ttT	p.L254F		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	254							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCCAGCCCTTGCCACACGCCC	0.577																																						ENST00000309415.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						c.(760-762)ttG>ttT		SH3 domain containing ring finger 3							41.0	47.0	45.0					2																	109964318		2101	4221	6322	SO:0001583	missense	344558						zinc ion binding	g.chr2:109964318G>T	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.762G>T	2.37:g.109964318G>T	ENSP00000309186:p.Leu254Phe		Somatic					p.L254F	NM_001099289.1	NP_001092759.1	WXS	Illumina GAIIx	Phase_I	Q8TEJ3	SH3R3_HUMAN			2	762	+			254					A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37	c.762G>T		.	.	.	.	.	.	.	.	.	.	G	12.91	2.079323	0.36662	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.31769	1.48;1.48	5.06	3.97	0.46021	.	.	.	.	.	T	0.47192	0.1432	.	.	.	0.40062	D	0.975905	D	0.76494	0.999	D	0.76071	0.987	T	0.45411	-0.9263	8	0.48119	T	0.1	.	6.1418	0.20263	0.0883:0.1432:0.6383:0.1302	.	254	Q8TEJ3	SH3R3_HUMAN	F	254	ENSP00000414997:L254F;ENSP00000309186:L254F	ENSP00000309186:L254F	L	+	3	2	SH3RF3	109330750	0.989000	0.36119	0.953000	0.39169	0.175000	0.22909	1.114000	0.31196	2.335000	0.79485	0.555000	0.69702	TTG		0.577	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		6	68	1	0	1.11149e-13	1	1.1826e-13	6	68				
CHD6	84181	broad.mit.edu	37	20	40033458	40033458	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:40033458C>T	ENST00000373233.3	-	37	8100	c.7923G>A	c.(7921-7923)caG>caA	p.Q2641Q	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2641					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGTGTCTGGCCTGCTGCATGG	0.542																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(7921-7923)caG>caA		chromodomain helicase DNA binding protein 6							48.0	53.0	51.0					20																	40033458		2203	4300	6503	SO:0001819	synonymous_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40033458C>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7923G>A	20.37:g.40033458C>T			Somatic				CHD6_ENST00000480022.1_5'UTR	p.Q2641Q	NM_032221.3	NP_115597.3	WXS	Illumina GAIIx	Phase_I	Q8TD26	CHD6_HUMAN			37	8100	-		Myeloproliferative disorder(115;0.00425)	2641					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.7923G>A	CCDS13317.1																																																																																				0.542	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			36	66	0	0	0	1	0	36	66				
CT47B1	643311	broad.mit.edu	37	X	120009353	120009353	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:120009353C>G	ENST00000371311.3	-	1	426	c.172G>C	c.(172-174)Gtg>Ctg	p.V58L		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	58										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						AGGCCTTCCACGGGCCCTGCG	0.751																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(172-174)Gtg>Ctg		cancer/testis antigen family 47, member B1							3.0	6.0	5.0					X																	120009353		621	1436	2057	SO:0001583	missense	643311							g.chrX:120009353C>G		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.172G>C	X.37:g.120009353C>G	ENSP00000360360:p.Val58Leu		Somatic					p.V58L	NM_001145718.1	NP_001139190.1	WXS	Illumina GAIIx	Phase_I	P0C2W7	CT47B_HUMAN			1	426	-			58					A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	c.172G>C	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	C	5.105	0.204985	0.09704	.	.	ENSG00000236446	ENST00000371311	.	.	.	2.34	-4.68	0.03309	.	7.540080	0.00447	N	0.000098	T	0.18635	0.0447	N	0.14661	0.345	0.09310	N	1	B	0.24651	0.108	B	0.20184	0.028	T	0.05699	-1.0869	9	0.36615	T	0.2	.	1.9792	0.03422	0.1586:0.4437:0.1584:0.2393	.	58	P0C2W7	CT47B_HUMAN	L	58	.	ENSP00000360360:V58L	V	-	1	0	CT47B1	119893381	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-1.264000	0.02847	-2.226000	0.00723	-1.607000	0.00807	GTG		0.751	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		3	14	0	0	0	1	0	3	14				
MUC16	94025	broad.mit.edu	37	19	9009609	9009609	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:9009609T>C	ENST00000397910.4	-	39	39320	c.39117A>G	c.(39115-39117)acA>acG	p.T13039T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13041	SEA 7. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGACCCTCTCTGTGGTGTTGA	0.562																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(39115-39117)acA>acG		mucin 16, cell surface associated							197.0	162.0	173.0					19																	9009609		1995	4166	6161	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9009609T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39117A>G	19.37:g.9009609T>C			Somatic					p.T13039T	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			39	39320	-			13041			SEA 7.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.39117A>G	CCDS54212.1																																																																																				0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	2044	0	0	0	1	0	10	2044				
EXTL2	2135	broad.mit.edu	37	1	101339500	101339500	+	Nonstop_Mutation	SNP	A	A	T	rs372520087		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:101339500A>T	ENST00000370114.3	-	5	2427	c.991T>A	c.(991-993)Taa>Aaa	p.*331K	EXTL2_ENST00000535414.1_Nonstop_Mutation_p.*318K|EXTL2_ENST00000370113.3_Nonstop_Mutation_p.*331K	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	0					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTTACTTTTATATTTTTCTT	0.303																																						ENST00000370114.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14						c.(991-993)Taa>Aaa		exostosin-like glycosyltransferase 2							42.0	47.0	45.0					1																	101339500		2197	4290	6487	SO:0001578	stop_lost	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101339500A>T	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.991T>A	1.37:g.101339500A>T			Somatic				EXTL2_ENST00000535414.1_Nonstop_Mutation_p.*318K|EXTL2_ENST00000370113.3_Nonstop_Mutation_p.*331K	p.*331K	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	WXS	Illumina GAIIx	Phase_I	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	5	2427	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	0					B2R795|D3DT60	Nonstop_Mutation	SNP	ENST00000370114.3	37	c.991T>A	CCDS775.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760436	0.49468	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6278	0.76874	1.0:0.0:0.0:0.0	.	.	.	.	K	331;331;318	.	.	X	-	1	0	EXTL2	101112088	1.000000	0.71417	0.915000	0.36163	0.555000	0.35460	7.681000	0.84073	2.280000	0.76307	0.460000	0.39030	TAA		0.303	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		5	73	0	0	0	1	0	5	73				
RIF1	55183	broad.mit.edu	37	2	152324541	152324541	+	Missense_Mutation	SNP	A	A	C	rs375183072		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:152324541A>C	ENST00000243326.5	+	30	7111	c.6628A>C	c.(6628-6630)Ata>Cta	p.I2210L	RIF1_ENST00000453091.2_Missense_Mutation_p.I2210L|RIF1_ENST00000428287.2_Missense_Mutation_p.I2210L|RIF1_ENST00000444746.2_Missense_Mutation_p.I2210L|RIF1_ENST00000430328.2_Missense_Mutation_p.I2210L			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGCAGATCCAATATACCAAGC	0.353																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(6628-6630)Ata>Cta		RAP1 interacting factor homolog (yeast)							121.0	117.0	119.0					2																	152324541		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152324541A>C	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6628A>C	2.37:g.152324541A>C	ENSP00000243326:p.Ile2210Leu		Somatic				RIF1_ENST00000430328.2_Missense_Mutation_p.I2210L|RIF1_ENST00000453091.2_Missense_Mutation_p.I2210L|RIF1_ENST00000444746.2_Missense_Mutation_p.I2210L|RIF1_ENST00000428287.2_Missense_Mutation_p.I2210L	p.I2210L			WXS	Illumina GAIIx	Phase_I	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	30	7111	+			2210			Interaction with condensed chromosomes in telophase.		A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.6628A>C	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	31	5.095437	0.94197	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.14640	2.51;2.49;2.49;2.51;2.49	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	M	0.64997	1.995	0.80722	D	1	P;D	0.60160	0.928;0.987	P;D	0.71656	0.717;0.974	T	0.03184	-1.1063	10	0.56958	D	0.05	-22.0883	15.5077	0.75753	1.0:0.0:0.0:0.0	.	2210;2210	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	L	2210	ENSP00000390181:I2210L;ENSP00000414615:I2210L;ENSP00000415691:I2210L;ENSP00000243326:I2210L;ENSP00000416123:I2210L	ENSP00000243326:I2210L	I	+	1	0	RIF1	152032787	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.022000	0.70839	2.143000	0.66587	0.482000	0.46254	ATA		0.353	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			27	134	0	0	0	1	0	27	134				
RNF168	165918	broad.mit.edu	37	3	196210676	196210676	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:196210676A>T	ENST00000318037.3	-	4	1239	c.645T>A	c.(643-645)agT>agA	p.S215R		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	215					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GTTTGTTCTTACTTTTCTTTT	0.363																																						ENST00000318037.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(643-645)agT>agA		ring finger protein 168, E3 ubiquitin protein ligase							223.0	213.0	216.0					3																	196210676		2203	4300	6503	SO:0001583	missense	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196210676A>T	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.645T>A	3.37:g.196210676A>T	ENSP00000320898:p.Ser215Arg		Somatic					p.S215R	NM_152617.3	NP_689830.2	WXS	Illumina GAIIx	Phase_I	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	4	1239	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		215					Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.645T>A	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.459584	0.26248	.	.	ENSG00000163961	ENST00000318037	T	0.07114	3.22	6.06	3.66	0.41972	.	0.427326	0.21827	N	0.068526	T	0.08447	0.0210	M	0.63428	1.95	0.32275	N	0.568292	B	0.12630	0.006	B	0.10450	0.005	T	0.12967	-1.0527	10	0.15952	T	0.53	-2.4676	5.9656	0.19322	0.5946:0.3244:0.081:0.0	.	215	Q8IYW5	RN168_HUMAN	R	215	ENSP00000320898:S215R	ENSP00000320898:S215R	S	-	3	2	RNF168	197695073	0.999000	0.42202	0.979000	0.43373	0.962000	0.63368	0.819000	0.27308	1.071000	0.40834	0.533000	0.62120	AGT		0.363	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		8	162	0	0	0	1	0	8	162				
ACTC1	70	broad.mit.edu	37	15	35083383	35083383	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:35083383A>G	ENST00000290378.4	-	6	1577	c.922T>C	c.(922-924)Tac>Cac	p.Y308H	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	308					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ATACCAGGGTACATAGTGGTG	0.448																																						ENST00000290378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31						c.(922-924)Tac>Cac		actin, alpha, cardiac muscle 1							327.0	289.0	302.0					15																	35083383		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35083383A>G	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.922T>C	15.37:g.35083383A>G	ENSP00000290378:p.Tyr308His		Somatic				RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR	p.Y308H	NM_005159.4	NP_005150.1	WXS	Illumina GAIIx	Phase_I	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	6	1577	-		all_lung(180;2.3e-08)	308					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.922T>C	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.752343	0.69533	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.97505	-4.41	5.49	5.49	0.81192	.	0.000000	0.49916	U	0.000139	D	0.98614	0.9536	M	0.86864	2.845	0.58432	D	0.999996	P	0.45634	0.863	D	0.74674	0.984	D	0.99723	1.1010	10	0.87932	D	0	.	15.8884	0.79273	1.0:0.0:0.0:0.0	.	308	P68032	ACTC_HUMAN	H	308;273	ENSP00000290378:Y308H	ENSP00000290378:Y308H	Y	-	1	0	ACTC1	32870675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.105000	0.94246	2.209000	0.71365	0.533000	0.62120	TAC		0.448	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		4	705	0	0	0	1	0	4	705				
ARRB2	409	broad.mit.edu	37	17	4624281	4624281	+	Missense_Mutation	SNP	C	C	T	rs550313289		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:4624281C>T	ENST00000269260.2	+	15	1410	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W	ARRB2_ENST00000572457.1_Missense_Mutation_p.R201W|ARRB2_ENST00000575877.1_3'UTR|ARRB2_ENST00000346341.2_Missense_Mutation_p.R390W|ARRB2_ENST00000412477.3_Missense_Mutation_p.R414W|ARRB2_ENST00000381488.6_Missense_Mutation_p.R378W|ARRB2_ENST00000574954.1_Missense_Mutation_p.R201W|ARRB2_ENST00000571206.1_Missense_Mutation_p.R201W	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	393	Interaction with AP2B1.|Interaction with TRAF6.				adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						GGACTTTGCCCGGCTTCGGCT	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		18519	0.0		0.0	False		,,,				2504	0.001					ENST00000269260.2																			0				large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						c.(1177-1179)Cgg>Tgg		arrestin, beta 2							205.0	165.0	179.0					17																	4624281		2203	4300	6503	SO:0001583	missense	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4624281C>T		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.1177C>T	17.37:g.4624281C>T	ENSP00000269260:p.Arg393Trp		Somatic				ARRB2_ENST00000572457.1_Missense_Mutation_p.R201W|ARRB2_ENST00000346341.2_Missense_Mutation_p.R390W|ARRB2_ENST00000381488.6_Missense_Mutation_p.R378W|ARRB2_ENST00000574954.1_Missense_Mutation_p.R201W|ARRB2_ENST00000575877.1_3'UTR|ARRB2_ENST00000571206.1_Missense_Mutation_p.R201W|ARRB2_ENST00000412477.3_Missense_Mutation_p.R414W	p.R393W	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	WXS	Illumina GAIIx	Phase_I	P32121	ARRB2_HUMAN			15	1410	+			393			Interaction with AP2B1.|Interaction with TRAF6.		B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	SNP	ENST00000269260.2	37	c.1177C>T	CCDS11050.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860644	0.71834	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T	0.22134	1.97	4.16	0.63	0.17693	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36054	0.0953	L	0.51422	1.61	0.58432	D	0.999998	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;0.999;0.999;0.997;0.998	T	0.14504	-1.0470	10	0.87932	D	0	-10.5342	11.3496	0.49579	0.4421:0.5579:0.0:0.0	.	414;390;405;378;393	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	W	405;393;378;394	ENSP00000269260:R393W	ENSP00000269260:R393W	R	+	1	2	ARRB2	4571030	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.426000	0.52778	0.481000	0.27557	0.551000	0.68910	CGG		0.557	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		5	739	0	0	0	1	0	5	739				
ADAM18	8749	broad.mit.edu	37	8	39550117	39550117	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:39550117A>T	ENST00000265707.5	+	17	1866		c.e17-1		ADAM18_ENST00000541111.1_Splice_Site|ADAM18_ENST00000379866.1_Splice_Site|ADAM18_ENST00000523755.1_Splice_Site	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GTTTTGTTTTAGTACTGTGTA	0.279																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.e17-1		ADAM metallopeptidase domain 18							49.0	52.0	51.0					8																	39550117		2203	4298	6501	SO:0001630	splice_region_variant	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39550117A>T	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1822-1A>T	8.37:g.39550117A>T			Somatic				ADAM18_ENST00000541111.1_Splice_Site|ADAM18_ENST00000379866.1_Splice_Site|ADAM18_ENST00000523755.1_Splice_Site		NM_014237.2	NP_055052.1	WXS	Illumina GAIIx	Phase_I	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		17	1866	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)						B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Splice_Site	SNP	ENST00000265707.5	37		CCDS6113.1	.	.	.	.	.	.	.	.	.	.	A	8.358	0.832375	0.16820	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000541111	.	.	.	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2602	0.37608	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM18	39669274	1.000000	0.71417	0.969000	0.41365	0.138000	0.21146	2.177000	0.42509	1.968000	0.57251	0.374000	0.22700	.		0.279	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	Intron	4	83	0	0	0	1	0	4	83				
BRCA1	672	broad.mit.edu	37	17	41246630	41246630	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:41246630A>T	ENST00000357654.3	-	10	1036	c.918T>A	c.(916-918)aaT>aaA	p.N306K	BRCA1_ENST00000354071.3_Missense_Mutation_p.N306K|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.N306K|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.N259K|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.N10K|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.N306K	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	306					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTTTGCTTTTATTACAGAATT	0.418			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 1			E		"""breast, ovarian"""	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(28-30)aaT>aaA	Homologous recombination	breast cancer 1, early onset							150.0	139.0	143.0					17																	41246630		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41246630A>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.918T>A	17.37:g.41246630A>T	ENSP00000350283:p.Asn306Lys	TCGA Ovarian(2;0.000030)	Somatic				BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.N259K|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.N306K|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.N306K|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.N306K|BRCA1_ENST00000354071.3_Missense_Mutation_p.N306K	p.N10K	NM_007297.3	NP_009228.2	WXS	Illumina GAIIx	Phase_I	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1057	-		Breast(137;0.000717)	306		E -> K (in BC and BROVCA1).			O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.30T>A	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.07|17.07	3.294775|3.294775	0.60086|0.60086	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000473961|ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152;ENST00000497488;ENST00000494123	.|D;D;D;D;D;D;D;D;D;D	.|0.90444	.|-2.2;-2.32;-2.3;-2.41;-2.2;-2.32;-1.59;-1.59;-2.67;-1.59	4.95|4.95	3.87|3.87	0.44632|0.44632	.|.	.|0.536286	.|0.18522	.|N	.|0.138754	D|D	0.93916|0.93916	0.8053|0.8053	M|M	0.91818|0.91818	3.245|3.245	0.31514|0.31514	N|N	0.663179|0.663179	.|P;P;P;P;P;P	.|0.49961	.|0.842;0.842;0.884;0.784;0.93;0.733	.|B;B;B;P;P;P	.|0.52031	.|0.321;0.257;0.41;0.54;0.688;0.623	D|D	0.93220|0.93220	0.6608|0.6608	5|10	.|0.72032	.|D	.|0.01	.|.	9.0569|9.0569	0.36412|0.36412	0.9161:0.0:0.0839:0.0|0.9161:0.0:0.0839:0.0	.|.	.|306;265;306;306;306;306	.|E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.|.;.;.;.;BRCA1_HUMAN;.	K|K	172|306;306;306;306;10;306;259;306;280;10;306	.|ENSP00000350283:N306K;ENSP00000326002:N306K;ENSP00000246907:N306K;ENSP00000310938:N10K;ENSP00000418960:N306K;ENSP00000418775:N259K;ENSP00000419274:N306K;ENSP00000419988:N280K;ENSP00000418986:N10K;ENSP00000419103:N306K	.|ENSP00000310938:N10K	I|N	-|-	2|3	0|2	BRCA1|BRCA1	38500156|38500156	0.924000|0.924000	0.31332|0.31332	0.985000|0.985000	0.45067|0.45067	0.997000|0.997000	0.91878|0.91878	1.890000|1.890000	0.39728|0.39728	1.005000|1.005000	0.39183|0.39183	0.533000|0.533000	0.62120|0.62120	ATA|AAT		0.418	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		5	182	0	0	0	1	0	5	182				
IQGAP1	8826	broad.mit.edu	37	15	91025444	91025444	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:91025444C>T	ENST00000268182.5	+	28	3610	c.3486C>T	c.(3484-3486)ttC>ttT	p.F1162F	IQGAP1_ENST00000560738.1_Silent_p.F590F	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1162	C1.|Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GGATGCGCTTCATTGCCAAAG	0.522											OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3484-3486)ttC>ttT		IQ motif containing GTPase activating protein 1							136.0	118.0	124.0					15																	91025444		2198	4298	6496	SO:0001819	synonymous_variant	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91025444C>T	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3486C>T	15.37:g.91025444C>T			Somatic	OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1279	IQGAP1_ENST00000560738.1_Silent_p.F590F	p.F1162F	NM_003870.3	NP_003861.1	WXS	Illumina GAIIx	Phase_I	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		28	3610	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1162			C1.|Ras-GAP.		A7MBM3	Silent	SNP	ENST00000268182.5	37	c.3486C>T	CCDS10362.1																																																																																				0.522	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		52	181	0	0	0	1	0	52	181				
CCDC60	160777	broad.mit.edu	37	12	119909965	119909965	+	Silent	SNP	T	T	C	rs139079166	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:119909965T>C	ENST00000327554.2	+	3	802	c.337T>C	c.(337-339)Ttg>Ctg	p.L113L	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	113										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGACACCTTATTGAGGTAAGT	0.458																																						ENST00000327554.2																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(337-339)Ttg>Ctg		coiled-coil domain containing 60		T		6,4400	11.4+/-27.6	0,6,2197	172.0	177.0	175.0		337	-6.1	0.0	12	dbSNP_134	175	0,8600		0,0,4300	no	coding-synonymous	CCDC60	NM_178499.3		0,6,6497	CC,CT,TT		0.0,0.1362,0.0461		113/551	119909965	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	160777							g.chr12:119909965T>C	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.337T>C	12.37:g.119909965T>C			Somatic				CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	p.L113L	NM_178499.3	NP_848594.2	WXS	Illumina GAIIx	Phase_I	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	3	802	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		113						Silent	SNP	ENST00000327554.2	37	c.337T>C	CCDS9190.1																																																																																				0.458	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		168	552	0	0	0	1	0	168	552				
ARHGAP21	57584	broad.mit.edu	37	10	24874693	24874693	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:24874693A>T	ENST00000396432.2	-	26	5011	c.4525T>A	c.(4525-4527)Tca>Aca	p.S1509T		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1508					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTGTGTTTTGAGTTGTGTGGT	0.488																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(4525-4527)Tca>Aca		Rho GTPase activating protein 21							278.0	245.0	256.0					10																	24874693		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874693A>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4525T>A	10.37:g.24874693A>T	ENSP00000379709:p.Ser1509Thr		Somatic					p.S1509T	NM_020824.3	NP_065875.3	WXS	Illumina GAIIx	Phase_I	Q5T5U3	RHG21_HUMAN			26	5011	-			1508					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.4525T>A	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	A	11.26	1.584958	0.28268	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.10573	2.86	4.47	-8.32	0.00996	.	0.858387	0.10257	N	0.696485	T	0.04952	0.0133	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32375	-0.9909	10	0.45353	T	0.12	.	2.44	0.04492	0.203:0.4215:0.1952:0.1802	.	1508	Q5T5U3	RHG21_HUMAN	T	1509;958	ENSP00000379709:S1509T	ENSP00000379709:S1509T	S	-	1	0	ARHGAP21	24914699	0.185000	0.23213	0.000000	0.03702	0.001000	0.01503	0.532000	0.23067	-2.209000	0.00739	-1.373000	0.01185	TCA		0.488	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		6	675	0	0	0	1	0	6	675				
ANKRD55	79722	broad.mit.edu	37	5	55407417	55407417	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:55407417A>G	ENST00000341048.4	-	10	1309	c.1158T>C	c.(1156-1158)gaT>gaC	p.D386D	ANKRD55_ENST00000434982.2_Silent_p.D98D|ANKRD55_ENST00000504958.2_Silent_p.D343D|ANKRD55_ENST00000505970.2_5'UTR	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	386										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CCACGATGCTATCAAAGGTGG	0.463																																						ENST00000341048.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34						c.(1156-1158)gaT>gaC		ankyrin repeat domain 55							298.0	287.0	291.0					5																	55407417		2203	4300	6503	SO:0001819	synonymous_variant	79722							g.chr5:55407417A>G	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1158T>C	5.37:g.55407417A>G			Somatic				ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000434982.2_Silent_p.D98D|ANKRD55_ENST00000504958.2_Silent_p.D343D	p.D386D	NM_024669.2	NP_078945.2	WXS	Illumina GAIIx	Phase_I	Q3KP44	ANR55_HUMAN			10	1309	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	385					B3KVT8|Q3KP45|Q9HAD3	Silent	SNP	ENST00000341048.4	37	c.1158T>C	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	.	9.437	1.087067	0.20390	.	.	ENSG00000164512	ENST00000505970	.	.	.	5.59	4.72	0.59763	.	.	.	.	.	T	0.65344	0.2682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68254	-0.5457	5	0.87932	D	0	.	8.683	0.34221	0.2478:0.0:0.7522:0.0	.	.	.	.	T	131	.	ENSP00000422370:I131T	I	-	2	0	ANKRD55	55443174	1.000000	0.71417	0.998000	0.56505	0.826000	0.46750	3.206000	0.51098	1.489000	0.48450	-0.248000	0.11899	ATA		0.463	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		128	678	0	0	0	1	0	128	678				
HPS3	84343	broad.mit.edu	37	3	148872892	148872892	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:148872892A>T	ENST00000296051.2	+	8	1540		c.e8-1		HPS3_ENST00000460120.1_Splice_Site	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3						organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTTTGCTTTTAGTTCGAGAAA	0.303									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.e8-1		Hermansky-Pudlak syndrome 3							89.0	94.0	92.0					3																	148872892		2203	4300	6503	SO:0001630	splice_region_variant	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148872892A>T	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1401-1A>T	3.37:g.148872892A>T			Somatic				HPS3_ENST00000460120.1_Splice_Site		NM_032383.3	NP_115759.2	WXS	Illumina GAIIx	Phase_I	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		8	1540	+								A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Splice_Site	SNP	ENST00000296051.2	37		CCDS3140.1	.	.	.	.	.	.	.	.	.	.	A	19.07	3.755131	0.69648	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1558	0.59516	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HPS3	150355582	1.000000	0.71417	0.990000	0.47175	0.985000	0.73830	3.727000	0.54984	2.092000	0.63282	0.533000	0.62120	.		0.303	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383	Intron	6	130	0	0	0	1	0	6	130				
TRPC4	7223	broad.mit.edu	37	13	38211143	38211143	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr13:38211143A>T	ENST00000379705.3	-	11	3688	c.2831T>A	c.(2830-2832)aTa>aAa	p.I944K	TRPC4_ENST00000355779.2_Missense_Mutation_p.I803K|TRPC4_ENST00000447043.1_Missense_Mutation_p.I803K|TRPC4_ENST00000379673.2_Missense_Mutation_p.I795K|TRPC4_ENST00000338947.5_Missense_Mutation_p.I771K|TRPC4_ENST00000358477.2_Missense_Mutation_p.I860K|TRPC4_ENST00000379679.1_Missense_Mutation_p.I771K|TRPC4_ENST00000379681.3_Missense_Mutation_p.I949K|TRPC4_ENST00000426868.2_3'UTR			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	944	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTCCTTTGGTATTATAGGAAC	0.453																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(2830-2832)aTa>aAa		transient receptor potential cation channel, subfamily C, member 4							164.0	143.0	150.0					13																	38211143		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38211143A>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2831T>A	13.37:g.38211143A>T	ENSP00000369027:p.Ile944Lys		Somatic				TRPC4_ENST00000379679.1_Missense_Mutation_p.I771K|TRPC4_ENST00000358477.2_Missense_Mutation_p.I860K|TRPC4_ENST00000447043.1_Missense_Mutation_p.I803K|TRPC4_ENST00000338947.5_Missense_Mutation_p.I771K|TRPC4_ENST00000379673.2_Missense_Mutation_p.I795K|TRPC4_ENST00000379681.3_Missense_Mutation_p.I949K|TRPC4_ENST00000355779.2_Missense_Mutation_p.I803K|TRPC4_ENST00000426868.2_3'UTR	p.I944K			WXS	Illumina GAIIx	Phase_I	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	11	3688	-			944			Binds to ITPR1, ITPR2 and ITPR3.		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.2831T>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	A	10.96	1.498997	0.26861	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T	0.72942	-0.18;-0.18;0.01;0.01;0.1;-0.46;-0.7;0.1	5.72	4.54	0.55810	.	0.326340	0.30159	N	0.010261	T	0.64182	0.2575	N	0.08118	0	0.80722	D	1	B;B;P;B;B;B	0.48694	0.027;0.065;0.914;0.144;0.185;0.089	B;B;P;B;B;B	0.61328	0.01;0.015;0.887;0.06;0.034;0.017	T	0.67154	-0.5742	10	0.56958	D	0.05	-25.2989	7.8502	0.29451	0.8575:0.0:0.1425:0.0	.	803;795;949;771;860;944	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	K	944;949;771;771;803;860;795;803	ENSP00000369027:I944K;ENSP00000369003:I949K;ENSP00000342580:I771K;ENSP00000369001:I771K;ENSP00000348025:I803K;ENSP00000351264:I860K;ENSP00000368995:I795K;ENSP00000414316:I803K	ENSP00000342580:I771K	I	-	2	0	TRPC4	37109143	0.961000	0.32948	0.928000	0.36995	0.451000	0.32288	3.145000	0.50623	2.311000	0.77944	0.533000	0.62120	ATA		0.453	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		4	306	0	0	0	1	0	4	306				
CT83	203413	broad.mit.edu	37	X	115593103	115593103	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:115593103A>T	ENST00000371894.4	-	2	293	c.147T>A	c.(145-147)atT>atA	p.I49I		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN		49						integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(3)|lung(8)	12						TATTGCTGTTAATTAACCCAG	0.393																																						ENST00000371894.4																			0				breast(1)|large_intestine(3)|lung(8)	12						c.(145-147)atT>atA		chromosome X open reading frame 61							127.0	112.0	117.0					X																	115593103		2203	4300	6503	SO:0001819	synonymous_variant	203413					integral to membrane|plasma membrane		g.chrX:115593103A>T																												ENST00000371894.4:c.147T>A	X.37:g.115593103A>T			Somatic					p.I49I	NM_001017978.2	NP_001017978.1	WXS	Illumina GAIIx	Phase_I	Q5H943	KKLC1_HUMAN			2	293	-			49						Silent	SNP	ENST00000371894.4	37	c.147T>A	CCDS35372.1																																																																																				0.393	CXorf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057985.1			5	338	0	0	0	1	0	5	338				
ZNF195	7748	broad.mit.edu	37	11	3380960	3380960	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:3380960A>T	ENST00000399602.4	-	6	1404	c.1278T>A	c.(1276-1278)acT>acA	p.T426T	ZNF195_ENST00000429541.2_Silent_p.T358T|ZNF195_ENST00000354599.6_Silent_p.T354T|ZNF195_ENST00000005082.9_Silent_p.T403T|ZNF195_ENST00000343338.7_Silent_p.T358T|ZNF195_ENST00000526601.1_Silent_p.T407T|ZNF195_ENST00000528796.1_Intron	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	426					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCTTATGTTTAGTAAGGTCTG	0.433																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1060-1062)acT>acA		zinc finger protein 195							107.0	112.0	110.0					11																	3380960		2152	4278	6430	SO:0001819	synonymous_variant	7748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3380960A>T		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1278T>A	11.37:g.3380960A>T			Somatic				ZNF195_ENST00000429541.2_Silent_p.T358T|ZNF195_ENST00000399602.4_Silent_p.T426T|ZNF195_ENST00000343338.7_Silent_p.T358T|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000005082.9_Silent_p.T403T|ZNF195_ENST00000526601.1_Silent_p.T407T	p.T354T	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	WXS	Illumina GAIIx	Phase_I	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	1166	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	426	Missing (in Ref. 2; BAD18466).				A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	37	c.1062T>A	CCDS44522.1																																																																																				0.433	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			6	498	0	0	0	1	0	6	498				
EAPP	55837	broad.mit.edu	37	14	34994015	34994015	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:34994015T>A	ENST00000250454.3	-	5	552		c.e5-2			NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein						negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		CCATGGTAACTAGAACAGAAG	0.403																																						ENST00000250454.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12						c.e5-2		E2F-associated phosphoprotein							118.0	108.0	111.0					14																	34994015		1919	4138	6057	SO:0001630	splice_region_variant	55837				negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane		g.chr14:34994015T>A	AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"""chromosome 14 open reading frame 11"""	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.471-2A>T	14.37:g.34994015T>A			Somatic						NM_018453.3	NP_060923.2	WXS	Illumina GAIIx	Phase_I	Q56P03	EAPP_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)	5	552	-	Breast(36;0.0473)|Hepatocellular(127;0.158)							Q9BVF4|Q9NWV5|Q9NZ86	Splice_Site	SNP	ENST00000250454.3	37		CCDS41941.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.480316	0.63849	.	.	ENSG00000129518	ENST00000250454;ENST00000554792	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9833	0.41826	0.0:0.0759:0.0:0.9241	.	.	.	.	.	-1	.	.	.	-	.	.	EAPP	34063766	0.995000	0.38212	0.968000	0.41197	0.927000	0.56198	3.863000	0.56016	2.141000	0.66446	0.459000	0.35465	.		0.403	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453	Intron	10	299	0	0	0	1	0	10	299				
SNX27	81609	broad.mit.edu	37	1	151640946	151640946	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:151640946A>T	ENST00000458013.2	+	7	1105		c.e7-1		SNX27_ENST00000368838.1_Splice_Site|SNX27_ENST00000368843.3_Splice_Site|SNX27_ENST00000482791.1_Splice_Site			Q96L92	SNX27_HUMAN	sorting nexin family member 27						endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTTTCCTTTAGTACGTAAAT	0.373																																					Colon(46;291 966 40145 41237 41888)	ENST00000368843.3																			0				central_nervous_system(1)|large_intestine(2)|ovary(2)	5						c.e7-1		sorting nexin family member 27							109.0	108.0	109.0					1																	151640946		2203	4300	6503	SO:0001630	splice_region_variant	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151640946A>T	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.986-1A>T	1.37:g.151640946A>T			Somatic				SNX27_ENST00000368838.1_Splice_Site|SNX27_ENST00000482791.1_Splice_Site|SNX27_ENST00000458013.2_Splice_Site		NM_030918.5	NP_112180.4	WXS	Illumina GAIIx	Phase_I	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		7	1105	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)							Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Splice_Site	SNP	ENST00000458013.2	37			.	.	.	.	.	.	.	.	.	.	A	13.73	2.325311	0.41197	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.853	0.63508	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNX27	149907570	1.000000	0.71417	0.936000	0.37596	0.305000	0.27757	8.426000	0.90273	2.145000	0.66743	0.254000	0.18369	.		0.373	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918	Intron	5	188	0	0	0	1	0	5	188				
DCSTAMP	81501	broad.mit.edu	37	8	105360904	105360904	+	Missense_Mutation	SNP	A	A	T	rs201921514		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:105360904A>T	ENST00000297581.2	+	2	173	c.124A>T	c.(124-126)Att>Ttt	p.I42F	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.I42F	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	42					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											GGTTGCTCTTATTTCAGTGGG	0.507																																						ENST00000297581.2																			0											c.(124-126)Att>Ttt		dendrocyte expressed seven transmembrane protein							165.0	147.0	153.0					8																	105360904		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105360904A>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.124A>T	8.37:g.105360904A>T	ENSP00000297581:p.Ile42Phe		Somatic				DCSTAMP_ENST00000517991.1_Missense_Mutation_p.I42F|DPYS_ENST00000521601.1_Intron	p.I42F	NM_030788.3	NP_110415.1	WXS	Illumina GAIIx	Phase_I	Q9H295	TM7S4_HUMAN			2	173	+			42					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.124A>T	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.944527	0.53079	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.32023	1.47	5.51	-0.00361	0.14025	.	0.482837	0.21524	N	0.073180	T	0.24353	0.0590	M	0.67953	2.075	0.09310	N	0.999999	P	0.50272	0.933	B	0.39706	0.307	T	0.16928	-1.0386	9	.	.	.	-3.3922	4.1896	0.10414	0.3975:0.4141:0.0728:0.1155	.	42	Q9H295	TM7S4_HUMAN	F	42	ENSP00000297581:I42F	.	I	+	1	0	TM7SF4	105430080	0.001000	0.12720	0.025000	0.17156	0.896000	0.52359	-0.063000	0.11655	-0.217000	0.10033	0.533000	0.62120	ATT		0.507	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		7	532	0	0	0	1	0	7	532				
PPIL4	85313	broad.mit.edu	37	6	149838510	149838510	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:149838510A>C	ENST00000253329.2	-	11	1091	c.1059T>G	c.(1057-1059)gaT>gaG	p.D353E	RNU7-3P_ENST00000516435.1_RNA|PPIL4_ENST00000340881.2_5'UTR	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	353	Lys-rich.				protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		GCTTTACTTTATCTTTCAGAA	0.328																																						ENST00000253329.2																			0				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13						c.(1057-1059)gaT>gaG		peptidylprolyl isomerase (cyclophilin)-like 4							165.0	141.0	149.0					6																	149838510		2203	4299	6502	SO:0001583	missense	85313				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	g.chr6:149838510A>C		CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.1059T>G	6.37:g.149838510A>C	ENSP00000253329:p.Asp353Glu		Somatic				PPIL4_ENST00000340881.2_5'UTR	p.D353E	NM_139126.3	NP_624311.1	WXS	Illumina GAIIx	Phase_I	Q8WUA2	PPIL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)	11	1091	-		Ovarian(120;0.0164)	353			Lys-rich.		B2RD34|Q7Z3Q5	Missense_Mutation	SNP	ENST00000253329.2	37	c.1059T>G	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	A	7.960	0.746784	0.15710	.	.	ENSG00000131013	ENST00000253329	T	0.13196	2.61	5.83	1.84	0.25277	.	0.230580	0.50627	N	0.000103	T	0.01189	0.0039	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.41680	-0.9495	10	0.07482	T	0.82	.	0.2616	0.00219	0.3104:0.2145:0.1488:0.3263	.	353;353	B3KRR4;Q8WUA2	.;PPIL4_HUMAN	E	353	ENSP00000253329:D353E	ENSP00000253329:D353E	D	-	3	2	PPIL4	149880203	0.937000	0.31787	1.000000	0.80357	0.988000	0.76386	0.008000	0.13197	0.438000	0.26450	0.402000	0.26972	GAT		0.328	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			7	44	0	0	0	1	0	7	44				
ZNF664	144348	broad.mit.edu	37	12	124496890	124496890	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:124496890G>T	ENST00000539644.1	+	6	2029	c.199G>T	c.(199-201)Gat>Tat	p.D67Y	ZNF664_ENST00000538932.2_Missense_Mutation_p.D67Y|FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000337815.4_Missense_Mutation_p.D67Y|ZNF664_ENST00000392404.3_Missense_Mutation_p.D67Y			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	67					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TTGTGGTAAGGATTTTAGCAC	0.373																																						ENST00000539644.1																			0				breast(1)|large_intestine(5)|lung(6)|skin(1)	13						c.(199-201)Gat>Tat		zinc finger protein 664							88.0	97.0	94.0					12																	124496890		2203	4300	6503	SO:0001583	missense	144348				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:124496890G>T		CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.199G>T	12.37:g.124496890G>T	ENSP00000441405:p.Asp67Tyr		Somatic				ZNF664_ENST00000538932.2_Missense_Mutation_p.D67Y|ZNF664_ENST00000392404.3_Missense_Mutation_p.D67Y|ZNF664_ENST00000337815.4_Missense_Mutation_p.D67Y|RP11-522N14.1_ENST00000540762.1_RNA	p.D67Y			WXS	Illumina GAIIx	Phase_I	Q8N3J9	ZN664_HUMAN		Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)	6	2029	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		67					B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	37	c.199G>T	CCDS9257.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.14|12.14	1.848544|1.848544	0.32699|0.32699	.|.	.|.	ENSG00000179195|ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815|ENST00000535937	T;T;T;T|.	0.41400|.	1.0;1.0;1.0;1.0|.	4.07|4.07	4.07|4.07	0.47477|0.47477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.41823|.	D|.	0.000814|.	T|T	0.47154|0.47154	0.1430|0.1430	L|L	0.33668|0.33668	1.02|1.02	0.34110|0.34110	D|D	0.662875|0.662875	B|.	0.18461|.	0.028|.	B|.	0.33196|.	0.159|.	T|T	0.55029|0.55029	-0.8204|-0.8204	9|5	.|.	.|.	.|.	-38.189|-38.189	10.1369|10.1369	0.42712|0.42712	0.0:0.2032:0.7968:0.0|0.0:0.2032:0.7968:0.0	.|.	67|.	Q8N3J9|.	ZN664_HUMAN|.	Y|S	67|5	ENSP00000441405:D67Y;ENSP00000376205:D67Y;ENSP00000440645:D67Y;ENSP00000337320:D67Y|.	.|.	D|R	+|+	1|3	0|2	ZNF664|ZNF664	123062843|123062843	0.605000|0.605000	0.26941|0.26941	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.246000|0.246000	0.18160|0.18160	2.549000|2.549000	0.85964|0.85964	0.655000|0.655000	0.94253|0.94253	GAT|AGG		0.373	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437		5	265	1	0	3.59834e-05	1	3.75272e-05	5	265				
CFAP53	220136	broad.mit.edu	37	18	47777146	47777146	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr18:47777146A>T	ENST00000398545.4	-	5	1095	c.978T>A	c.(976-978)gaT>gaA	p.D326E		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GTTTCTTTTTATCTGCCTCTT	0.423																																						ENST00000398545.4																			0				endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20						c.(976-978)gaT>gaA		coiled-coil domain containing 11							241.0	215.0	223.0					18																	47777146		1854	4095	5949	SO:0001583	missense	220136							g.chr18:47777146A>T																												ENST00000398545.4:c.978T>A	18.37:g.47777146A>T	ENSP00000381553:p.Asp326Glu		Somatic					p.D326E	NM_145020.3	NP_659457.2	WXS	Illumina GAIIx	Phase_I	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	5	1095	-			326						Missense_Mutation	SNP	ENST00000398545.4	37	c.978T>A	CCDS11940.2	.	.	.	.	.	.	.	.	.	.	A	11.43	1.637057	0.29157	.	.	ENSG00000172361	ENST00000398545	T	0.07216	3.21	5.96	-2.61	0.06171	.	0.445863	0.24823	N	0.035311	T	0.03477	0.0100	L	0.31664	0.95	0.29478	N	0.856576	B	0.12013	0.005	B	0.16722	0.016	T	0.44345	-0.9334	10	0.02654	T	1	-7.8359	3.1294	0.06418	0.2438:0.468:0.1605:0.1277	.	326	Q96M91	CCD11_HUMAN	E	326	ENSP00000381553:D326E	ENSP00000381553:D326E	D	-	3	2	CCDC11	46031144	0.973000	0.33851	0.928000	0.36995	0.945000	0.59286	0.003000	0.13083	-0.079000	0.12707	0.533000	0.62120	GAT		0.423	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			12	599	0	0	0	1	0	12	599				
ALG1L	200810	broad.mit.edu	37	3	125647387	125647387	+	IGR	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:125647387G>A	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						ACCAGAAACTGTTTCCCTATG	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	100125556							g.chr3:125647387G>A	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647387G>A			Somatic						NR_024251.1		WXS	Illumina GAIIx	Phase_I					0	532	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		9	410	0	0	0	1	0	9	410				
TAF1	6872	broad.mit.edu	37	X	70643015	70643015	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:70643015G>T	ENST00000373790.4	+	30	4549	c.4498G>T	c.(4498-4500)Gat>Tat	p.D1500Y	TAF1_ENST00000423759.1_Missense_Mutation_p.D1521Y|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000276072.3_Missense_Mutation_p.D1521Y|TAF1_ENST00000449580.1_Missense_Mutation_p.D1500Y	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1500	Interaction with ASF1A and ASF1B.|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CCCCTTGCTGGATGATGATGA	0.423																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(4498-4500)Gat>Tat		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							165.0	130.0	142.0					X																	70643015		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70643015G>T		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4498G>T	X.37:g.70643015G>T	ENSP00000362895:p.Asp1500Tyr		Somatic				TAF1_ENST00000276072.3_Missense_Mutation_p.D1521Y|TAF1_ENST00000423759.1_Missense_Mutation_p.D1521Y|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000373790.4_Missense_Mutation_p.D1500Y	p.D1500Y			WXS	Illumina GAIIx	Phase_I	P21675	TAF1_HUMAN			30	4549	+	Renal(35;0.156)	all_lung(315;0.000321)	1500			Interaction with ASF1A and ASF1B.|Protein kinase 2.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.4498G>T	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	21.6|21.6	4.175260|4.175260	0.78564|0.78564	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000538124;ENST00000276072|ENST00000437147	T;T;T;T|.	0.10860|.	2.84;2.92;2.89;2.83|.	4.65|4.65	4.65|4.65	0.58169|0.58169	Bromodomain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74351|0.74351	0.3705|0.3705	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.77004|.	0.989;0.968;0.978|.	T|T	0.75436|0.75436	-0.3318|-0.3318	10|5	0.87932|.	D|.	0|.	.|.	17.0501|17.0501	0.86516|0.86516	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1500;1500;1521|.	P21675-4;P21675;P21675-2|.	.;TAF1_HUMAN;.|.	Y|C	1500;1500;1521;206;206;1521|154	ENSP00000362895:D1500Y;ENSP00000389000:D1500Y;ENSP00000406549:D1521Y;ENSP00000276072:D1521Y|.	ENSP00000276072:D1521Y|.	D|W	+|+	1|3	0|0	TAF1|TAF1	70559740|70559740	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.420000|9.420000	0.97426|0.97426	2.033000|2.033000	0.60031|0.60031	0.544000|0.544000	0.68410|0.68410	GAT|TGG		0.423	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		33	140	1	0	8.16721e-17	1	8.77836e-17	33	140				
OR13C8	138802	broad.mit.edu	37	9	107331538	107331538	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:107331538A>T	ENST00000335040.1	+	1	90	c.90A>T	c.(88-90)ctA>ctT	p.L30L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCTTCGTTCTAATTTTGTGGA	0.433																																						ENST00000335040.1																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						c.(88-90)ctA>ctT		olfactory receptor, family 13, subfamily C, member 8							232.0	225.0	227.0					9																	107331538		2203	4300	6503	SO:0001819	synonymous_variant	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107331538A>T		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.90A>T	9.37:g.107331538A>T			Somatic					p.L30L	NM_001004483.1	NP_001004483.1	WXS	Illumina GAIIx	Phase_I	Q8NGS7	O13C8_HUMAN			1	90	+			30					Q5VVG0|Q96R44	Silent	SNP	ENST00000335040.1	37	c.90A>T	CCDS35090.1																																																																																				0.433	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			11	394	0	0	0	1	0	11	394				
LGALS17A	400696	broad.mit.edu	37	19	40172101	40172101	+	RNA	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:40172101C>A	ENST00000412609.1	+	0	90																											GTGTCCTTGTCTACTGGTTCT	0.552																																					Colon(98;189 2488 3678)	ENST00000412609.1																			0																				242.0	189.0	205.0					19																	40172101		692	1591	2283			400696							g.chr19:40172101C>A																													19.37:g.40172101C>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	90	+									RNA	SNP	ENST00000412609.1	37																																																																																						0.552	LGALS17A-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000280514.1			5	195	1	0	0.0215528	1	0.0218993	5	195				
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C							extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TGGTTAAAACTAAATAACCAA	0.303																																						ENST00000397452.1																			0											c.e8-2		BPI fold containing family C							62.0	60.0	61.0					22																	32833840		2203	4300	6503	SO:0001630	splice_region_variant	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32833840T>A	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.656-2A>T	22.37:g.32833840T>A			Somatic				BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8NFQ6	BPIL2_HUMAN			8	766	-								A2RRF1	Splice_Site	SNP	ENST00000397452.1	37		CCDS13906.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868262	0.72065	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000432451	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5975	0.56478	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BPIFC	31163840	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	4.171000	0.58236	2.289000	0.77006	0.533000	0.62120	.		0.303	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	Intron	7	72	0	0	0	1	0	7	72				
TRIP11	9321	broad.mit.edu	37	14	92471891	92471891	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:92471891A>T	ENST00000267622.4	-	11	2802	c.2429T>A	c.(2428-2430)aTa>aAa	p.I810K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	810					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTTCTTGTTTATAAGTTGTGT	0.308			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2428-2430)aTa>aAa		thyroid hormone receptor interactor 11							82.0	88.0	86.0					14																	92471891		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471891A>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2429T>A	14.37:g.92471891A>T	ENSP00000267622:p.Ile810Lys		Somatic					p.I810K	NM_004239.3	NP_004230.2	WXS	Illumina GAIIx	Phase_I	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	2802	-			810					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.2429T>A	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.04|12.04	1.819750|1.819750	0.32145|0.32145	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.05996|.	3.36|.	5.77|5.77	4.63|4.63	0.57726|0.57726	.|.	0.303979|.	0.36066|.	N|.	0.002803|.	T|.	0.60235|.	0.2253|.	L|L	0.50333|0.50333	1.59|1.59	0.45762|0.45762	D|D	0.99865|0.99865	P;P|.	0.52170|.	0.773;0.951|.	B;P|.	0.47827|.	0.369;0.558|.	T|.	0.56444|.	-0.7978|.	10|.	0.56958|.	D|.	0.05|.	.|.	11.4774|11.4774	0.50306|0.50306	0.93:0.0:0.07:0.0|0.93:0.0:0.07:0.0	.|.	546;810|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	K|X	810;546|525	ENSP00000267622:I810K|.	ENSP00000267622:I810K|.	I|Y	-|-	2|3	0|2	TRIP11|TRIP11	91541644|91541644	1.000000|1.000000	0.71417|0.71417	0.005000|0.005000	0.12908|0.12908	0.084000|0.084000	0.17831|0.17831	6.066000|6.066000	0.71185|0.71185	1.026000|1.026000	0.39733|0.39733	0.254000|0.254000	0.18369|0.18369	ATA|TAT		0.308	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			6	77	0	0	0	1	0	6	77				
ACSL1	2180	broad.mit.edu	37	4	185678806	185678806	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:185678806G>A	ENST00000515030.1	-	20	2264	c.1939C>T	c.(1939-1941)Ctg>Ttg	p.L647L	ACSL1_ENST00000281455.2_Silent_p.L647L|ACSL1_ENST00000513317.1_Silent_p.L647L|ACSL1_ENST00000504342.1_Silent_p.L647L|ACSL1_ENST00000437665.3_Silent_p.L476L|ACSL1_ENST00000507295.1_Silent_p.L613L|ACSL1_ENST00000454703.2_Silent_p.L476L			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	647					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AATGGTTTCAGACCAGAATCC	0.348																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(1939-1941)Ctg>Ttg		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						183.0	190.0	187.0					4																	185678806		2203	4300	6503	SO:0001819	synonymous_variant	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185678806G>A	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1939C>T	4.37:g.185678806G>A			Somatic				ACSL1_ENST00000513317.1_Silent_p.L647L|ACSL1_ENST00000281455.2_Silent_p.L647L|ACSL1_ENST00000507295.1_Silent_p.L613L|ACSL1_ENST00000504342.1_Silent_p.L647L|ACSL1_ENST00000454703.2_Silent_p.L476L|ACSL1_ENST00000437665.3_Silent_p.L476L	p.L647L			WXS	Illumina GAIIx	Phase_I	P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	20	2264	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	647					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Silent	SNP	ENST00000515030.1	37	c.1939C>T	CCDS3839.1																																																																																				0.348	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		7	917	0	0	0	1	0	7	917				
DLST	1743	broad.mit.edu	37	14	75348686	75348686	+	Silent	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:75348686G>T	ENST00000334220.4	+	1	91	c.30G>T	c.(28-30)cgG>cgT	p.R10R	DLST_ENST00000334212.6_5'UTR|DLST_ENST00000555190.1_3'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	10					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		GTGTGTCTCGGGCGTTCAGCC	0.711																																						ENST00000334220.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(28-30)cgG>cgT		dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)							17.0	14.0	15.0					14																	75348686		2192	4277	6469	SO:0001819	synonymous_variant	1743				lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	g.chr14:75348686G>T		CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.30G>T	14.37:g.75348686G>T			Somatic				DLST_ENST00000555190.1_3'UTR|DLST_ENST00000334212.6_5'UTR	p.R10R	NM_001933.4	NP_001924.2	WXS	Illumina GAIIx	Phase_I	P36957	ODO2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00698)	1	91	+			10					B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Silent	SNP	ENST00000334220.4	37	c.30G>T	CCDS9833.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021734	0.54576	.	.	ENSG00000119689	ENST00000554806	T	0.11169	2.8	4.56	3.67	0.42095	.	.	.	.	.	T	0.21921	0.0528	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00686	-1.1610	6	0.87932	D	0	-35.5132	9.6318	0.39785	0.0985:0.0:0.9015:0.0	.	.	.	.	C	10	ENSP00000451957:G10C	ENSP00000238671:G10C	G	+	1	0	DLST	74418439	1.000000	0.71417	1.000000	0.80357	0.070000	0.16714	2.300000	0.43620	1.127000	0.42034	0.591000	0.81541	GGC		0.711	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1			2	0	1	0	1	1	1	2	0				
HMCN1	83872	broad.mit.edu	37	1	186158774	186158774	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:186158774A>G	ENST00000271588.4	+	107	16901	c.16672A>G	c.(16672-16674)Aca>Gca	p.T5558A	HMCN1_ENST00000367492.2_Missense_Mutation_p.T5441A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5558					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGTTGCATACACACAGGATGG	0.468																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(16672-16674)Aca>Gca		hemicentin 1							82.0	70.0	74.0					1																	186158774		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186158774A>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16672A>G	1.37:g.186158774A>G	ENSP00000271588:p.Thr5558Ala		Somatic				HMCN1_ENST00000367492.2_Missense_Mutation_p.T5441A	p.T5558A	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			107	16901	+			5558					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.16672A>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.888503	0.91814	.	.	ENSG00000143341	ENST00000271588;ENST00000367492;ENST00000414277	T;T;T	0.75704	-0.1;-0.09;-0.96	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.83069	0.5174	L	0.56769	1.78	0.42764	D	0.993819	D	0.76494	0.999	D	0.78314	0.991	T	0.80362	-0.1414	10	0.23302	T	0.38	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	5558	Q96RW7	HMCN1_HUMAN	A	5558;5441;233	ENSP00000271588:T5558A;ENSP00000356462:T5441A;ENSP00000406205:T233A	ENSP00000271588:T5558A	T	+	1	0	HMCN1	184425397	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.240000	0.72363	2.254000	0.74563	0.533000	0.62120	ACA		0.468	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		37	111	0	0	0	1	0	37	111				
RANBP2	5903	broad.mit.edu	37	2	109378555	109378555	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:109378555A>T	ENST00000283195.6	+	19	2728		c.e19-1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTGTTTTTTTAGTTGCAACTA	0.333																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.e19-1		RAN binding protein 2							91.0	100.0	97.0					2																	109378555		931	2027	2958	SO:0001630	splice_region_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109378555A>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2603-1A>T	2.37:g.109378555A>T			Somatic						NM_006267.4	NP_006258.3	WXS	Illumina GAIIx	Phase_I	P49792	RBP2_HUMAN			19	2728	+								Q13074|Q15280|Q53TE2|Q59FH7	Splice_Site	SNP	ENST00000283195.6	37		CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294558	0.81025	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3858	0.74699	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RANBP2	108744987	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.847000	0.75404	2.088000	0.63022	0.455000	0.32223	.		0.333	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	Intron	5	60	0	0	0	1	0	5	60				
PPP1R7	5510	broad.mit.edu	37	2	242102749	242102749	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:242102749G>C	ENST00000234038.6	+	7	1121	c.647G>C	c.(646-648)gGg>gCg	p.G216A	PPP1R7_ENST00000406106.3_Missense_Mutation_p.G216A|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000407025.1_Missense_Mutation_p.G216A|PPP1R7_ENST00000402734.1_Missense_Mutation_p.G157A|PPP1R7_ENST00000404405.3_Missense_Mutation_p.G210A|PPP1R7_ENST00000272983.8_Missense_Mutation_p.G173A|PPP1R7_ENST00000401987.1_Missense_Mutation_p.G173A	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	216					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TTGTTTTTGGGGAAAAACAAA	0.493																																					NSCLC(62;446 1299 5417 11238 27640)	ENST00000234038.6																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23						c.(646-648)gGg>gCg		protein phosphatase 1, regulatory subunit 7							141.0	153.0	149.0					2																	242102749		2203	4300	6503	SO:0001583	missense	5510					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	g.chr2:242102749G>C	AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9295	protein-coding gene	gene with protein product		602877	"""protein phosphatase 1, regulatory (inhibitor) subunit 7"""			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.647G>C	2.37:g.242102749G>C	ENSP00000234038:p.Gly216Ala		Somatic				PPP1R7_ENST00000272983.8_Missense_Mutation_p.G173A|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000401987.1_Missense_Mutation_p.G173A|PPP1R7_ENST00000406106.3_Missense_Mutation_p.G216A|PPP1R7_ENST00000404405.3_Missense_Mutation_p.G210A|PPP1R7_ENST00000402734.1_Missense_Mutation_p.G157A|PPP1R7_ENST00000407025.1_Missense_Mutation_p.G216A	p.G216A	NM_002712.1	NP_002703.1	WXS	Illumina GAIIx	Phase_I	Q15435	PP1R7_HUMAN		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)	7	1121	+		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	216					B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Missense_Mutation	SNP	ENST00000234038.6	37	c.647G>C	CCDS2546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.927967|4.927967	0.92389|0.92389	.|.	.|.	ENSG00000115685|ENSG00000115685	ENST00000438799;ENST00000402734;ENST00000423280;ENST00000407025;ENST00000272983;ENST00000234038;ENST00000404405;ENST00000406106;ENST00000401987|ENST00000450367	T;T;T;T;T;T;T;T;T|T	0.23950|0.23754	1.88;1.88;1.88;1.88;1.88;1.88;2.26;1.88;1.88|1.89	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.25531|0.25531	0.0621|0.0621	N|N	0.10809|0.10809	0.05|0.05	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	1.0;1.0;0.999;1.0;0.996;1.0|.	T|T	0.21552|0.21552	-1.0242|-1.0242	10|8	0.51188|0.66056	T|D	0.08|0.02	-28.8491|-28.8491	18.7368|18.7368	0.91757|0.91757	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	200;157;173;216;216;210|.	C9JD73;C9J177;Q15435-2;Q15435;Q15435-3;B5MBZ8|.	.;.;.;PP1R7_HUMAN;.;.|.	A|R	200;157;157;216;173;216;210;216;173|191	ENSP00000396376:G200A;ENSP00000385012:G157A;ENSP00000412092:G157A;ENSP00000385657:G216A;ENSP00000272983:G173A;ENSP00000234038:G216A;ENSP00000385498:G210A;ENSP00000385022:G216A;ENSP00000385466:G173A|ENSP00000392373:G191R	ENSP00000234038:G216A|ENSP00000392373:G191R	G|G	+|+	2|1	0|0	PPP1R7|PPP1R7	241751422|241751422	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.503000|9.503000	0.97984|0.97984	2.488000|2.488000	0.83962|0.83962	0.655000|0.655000	0.94253|0.94253	GGG|GGA		0.493	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712		33	254	0	0	0	1	0	33	254				
SDHAF2	54949	broad.mit.edu	37	11	61205474	61205474	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:61205474A>T	ENST00000301761.2	+	3	334		c.e3-1		SDHAF2_ENST00000537782.1_Splice_Site|RP11-286N22.8_ENST00000543044.1_Splice_Site|SDHAF2_ENST00000543265.1_Intron|SDHAF2_ENST00000534878.1_Splice_Site|SDHAF2_ENST00000542074.1_Intron|RP11-286N22.8_ENST00000544880.1_Splice_Site	NM_017841.2	NP_060311.1			succinate dehydrogenase complex assembly factor 2											large_intestine(3)|lung(4)|ovary(2)	9						TCTTGTTTTTAGTCTTTTTGC	0.403																																						ENST00000301761.2																			0				large_intestine(3)|lung(4)|ovary(2)	9						c.e3-1		succinate dehydrogenase complex assembly factor 2							96.0	93.0	94.0					11																	61205474		2202	4299	6501	SO:0001630	splice_region_variant	54949				mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding	g.chr11:61205474A>T	AK000494	CCDS8007.1	11q12.2	2014-09-17	2009-08-10	2009-08-10	ENSG00000167985	ENSG00000167985		"""Mitochondrial respiratory chain complex assembly factors"""	26034	protein-coding gene	gene with protein product		613019	"""paraganglioma or familial glomus tumors 2"", ""chromosome 11 open reading frame 79"""	PGL2, C11orf79		19628817	Standard	NM_017841		Approved	FLJ20487, SDH5	uc001nrt.3	Q9NX18	OTTHUMG00000168279	ENST00000301761.2:c.261-1A>T	11.37:g.61205474A>T			Somatic				SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000534878.1_Splice_Site|SDHAF2_ENST00000537782.1_Splice_Site|RP11-286N22.8_ENST00000544880.1_Splice_Site|SDHAF2_ENST00000543265.1_Intron|RP11-286N22.8_ENST00000543044.1_Splice_Site		NM_017841.2	NP_060311.1	WXS	Illumina GAIIx	Phase_I	Q9NX18	SDHF2_HUMAN			3	334	+									Splice_Site	SNP	ENST00000301761.2	37		CCDS8007.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.500876	0.64298	.	.	ENSG00000256591;ENSG00000167985	ENST00000541135;ENST00000301761	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3309	0.74208	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SDHAF2;RP11-286N22.8	60962050	1.000000	0.71417	0.977000	0.42913	0.540000	0.34992	8.106000	0.89555	2.254000	0.74563	0.533000	0.62120	.		0.403	SDHAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398438.1	NM_017841	Intron	6	233	0	0	0	1	0	6	233				
ATRNL1	26033	broad.mit.edu	37	10	116925316	116925316	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:116925316A>T	ENST00000355044.3	+	7	1130		c.e7-1		ATRNL1_ENST00000527407.1_Intron|ATRNL1_ENST00000529665.1_Splice_Site	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1						G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCTTGCTTTTAGTTACAATTT	0.328																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.e7-1		attractin-like 1							69.0	69.0	69.0					10																	116925316		2203	4296	6499	SO:0001630	splice_region_variant	26033					integral to membrane	sugar binding	g.chr10:116925316A>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1005-1A>T	10.37:g.116925316A>T			Somatic				ATRNL1_ENST00000527407.1_Intron|ATRNL1_ENST00000529665.1_Splice_Site		NM_207303.2	NP_997186.1	WXS	Illumina GAIIx	Phase_I	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	7	1130	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)						O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Splice_Site	SNP	ENST00000355044.3	37		CCDS7592.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.375796	0.82682	.	.	ENSG00000107518	ENST00000355044	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8897	0.79286	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATRNL1	116915306	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.784000	0.91818	2.150000	0.67090	0.528000	0.53228	.		0.328	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	Intron	4	102	0	0	0	1	0	4	102				
CDK5RAP1	51654	broad.mit.edu	37	20	31967383	31967383	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:31967383A>T	ENST00000357886.4	-	9	1186	c.1033T>A	c.(1033-1035)Tat>Aat	p.Y345N	CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.Y331N|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.Y241N|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.Y331N			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	345					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						TTGGTTTTATAGTTGGTGGTA	0.468																																						ENST00000357886.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						c.(1033-1035)Tat>Aat		CDK5 regulatory subunit associated protein 1							115.0	118.0	117.0					20																	31967383		2203	4300	6503	SO:0001583	missense	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31967383A>T	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.1033T>A	20.37:g.31967383A>T	ENSP00000350558:p.Tyr345Asn		Somatic				CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.Y331N|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.Y331N|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.Y241N|CDK5RAP1_ENST00000339269.5_Intron	p.Y345N			WXS	Illumina GAIIx	Phase_I	Q96SZ6	CK5P1_HUMAN			9	1186	-			345					A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37	c.1033T>A		.	.	.	.	.	.	.	.	.	.	A	20.3	3.960356	0.74016	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000452723;ENST00000544843	.	.	.	5.16	5.16	0.70880	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	T	0.80149	0.4570	M	0.84433	2.695	0.80722	D	1	P;D;D;D;D	0.76494	0.851;0.999;0.998;0.997;0.996	D;D;D;D;D	0.80764	0.926;0.994;0.992;0.986;0.953	D	0.83522	0.0086	9	0.87932	D	0	-17.0353	12.9973	0.58654	1.0:0.0:0.0:0.0	.	345;331;331;331;241	Q96SZ6;Q675N5;Q53H36;Q96SZ6-3;Q96SZ6-2	CK5P1_HUMAN;.;.;.;.	N	331;345;241;331	.	ENSP00000217372:Y331N	Y	-	1	0	CDK5RAP1	31431044	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.069000	0.76755	2.162000	0.67917	0.459000	0.35465	TAT		0.468	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		5	150	0	0	0	1	0	5	150				
BIRC6	57448	broad.mit.edu	37	2	32832520	32832520	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:32832520A>T	ENST00000421745.2	+	72	14204		c.e72-1			NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTATTCTTTAGGTGTTGGTG	0.408																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.e72-1		baculoviral IAP repeat containing 6							165.0	165.0	165.0					2																	32832520		2203	4300	6503	SO:0001630	splice_region_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32832520A>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.14071-1A>T	2.37:g.32832520A>T			Somatic						NM_016252.3	NP_057336.3	WXS	Illumina GAIIx	Phase_I	Q9NR09	BIRC6_HUMAN			72	14204	+	Acute lymphoblastic leukemia(172;0.155)							Q9ULD1	Splice_Site	SNP	ENST00000421745.2	37		CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052658	0.55218	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2661	0.73663	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BIRC6	32686024	1.000000	0.71417	0.933000	0.37362	0.419000	0.31324	9.335000	0.96500	1.994000	0.58287	0.477000	0.44152	.		0.408	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	Intron	10	466	0	0	0	1	0	10	466				
KIF21A	55605	broad.mit.edu	37	12	39757017	39757017	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:39757017T>A	ENST00000361418.5	-	7	919		c.e7-2		KIF21A_ENST00000395670.3_Splice_Site|KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAGTGCCAACTAAAAGAAAGA	0.333																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.e7-2		kinesin family member 21A							95.0	93.0	94.0					12																	39757017		2203	4300	6503	SO:0001630	splice_region_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39757017T>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.904-2A>T	12.37:g.39757017T>A			Somatic				KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site|KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000361418.5_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q7Z4S6	KI21A_HUMAN			7	1323	-		Lung NSC(34;0.179)|all_lung(34;0.213)						A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Splice_Site	SNP	ENST00000361418.5	37		CCDS53776.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.306185	0.60305	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7019	0.69162	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF21A	38043284	1.000000	0.71417	0.991000	0.47740	0.633000	0.38033	3.341000	0.52151	1.880000	0.54463	0.460000	0.39030	.		0.333	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	Intron	6	121	0	0	0	1	0	6	121				
DOCK11	139818	broad.mit.edu	37	X	117742192	117742192	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:117742192A>T	ENST00000276202.7	+	26	2814		c.e26-1		DOCK11_ENST00000276204.6_Splice_Site	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11						blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GTTTATTTGTAGTATAGCTTC	0.363																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.e26-1		dedicator of cytokinesis 11							55.0	54.0	54.0					X																	117742192		2203	4300	6503	SO:0001630	splice_region_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117742192A>T	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.2752-1A>T	X.37:g.117742192A>T			Somatic				DOCK11_ENST00000276202.7_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q5JSL3	DOC11_HUMAN			26	2825	+								A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Splice_Site	SNP	ENST00000276202.7	37		CCDS35373.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809442	0.70797	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5447	0.68020	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK11	117626220	1.000000	0.71417	0.997000	0.53966	0.679000	0.39708	8.473000	0.90410	2.034000	0.60081	0.486000	0.48141	.		0.363	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	Intron	4	142	0	0	0	1	0	4	142				
OSBPL8	114882	broad.mit.edu	37	12	76750433	76750433	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:76750433A>T	ENST00000261183.3	-	23	2989	c.2510T>A	c.(2509-2511)aTa>aAa	p.I837K	OSBPL8_ENST00000393249.2_Missense_Mutation_p.I795K|OSBPL8_ENST00000393250.4_Missense_Mutation_p.I795K	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	837					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TGTTTGTTTTATAGATTCGAT	0.318																																						ENST00000261183.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						c.(2509-2511)aTa>aAa		oxysterol binding protein-like 8							179.0	176.0	177.0					12																	76750433		2202	4299	6501	SO:0001583	missense	114882				lipid transport		lipid binding	g.chr12:76750433A>T	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.2510T>A	12.37:g.76750433A>T	ENSP00000261183:p.Ile837Lys		Somatic				OSBPL8_ENST00000393250.4_Missense_Mutation_p.I795K|OSBPL8_ENST00000393249.2_Missense_Mutation_p.I795K	p.I837K	NM_020841.4	NP_065892.1	WXS	Illumina GAIIx	Phase_I	Q9BZF1	OSBL8_HUMAN			23	2989	-			837					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	c.2510T>A	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.696658	0.88830	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250	T;T;T	0.41065	1.05;1.01;1.05	5.87	5.87	0.94306	.	0.087185	0.85682	D	0.000000	T	0.52917	0.1764	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.68943	0.961	T	0.54964	-0.8214	10	0.62326	D	0.03	-21.2753	16.2377	0.82389	1.0:0.0:0.0:0.0	.	837	Q9BZF1	OSBL8_HUMAN	K	795;837;822;795	ENSP00000376939:I795K;ENSP00000261183:I837K;ENSP00000376940:I795K	ENSP00000261183:I837K	I	-	2	0	OSBPL8	75274564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.746000	0.74866	2.371000	0.80710	0.533000	0.62120	ATA		0.318	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		4	63	0	0	0	1	0	4	63				
WASL	8976	broad.mit.edu	37	7	123332672	123332672	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:123332672G>T	ENST00000223023.4	-	9	1408	c.1076C>A	c.(1075-1077)cCa>cAa	p.P359Q		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	359	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGTGGTGGTGGAGGCCCTGA	0.672																																						ENST00000223023.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1075-1077)cCa>cAa		Wiskott-Aldrich syndrome-like							76.0	80.0	78.0					7																	123332672		2203	4300	6503	SO:0001583	missense	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123332672G>T	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1076C>A	7.37:g.123332672G>T	ENSP00000223023:p.Pro359Gln		Somatic					p.P359Q	NM_003941.2	NP_003932.3	WXS	Illumina GAIIx	Phase_I	O00401	WASL_HUMAN			9	1408	-			359			Pro-rich.		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	c.1076C>A	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154489	0.57259	.	.	ENSG00000106299	ENST00000223023	D	0.92299	-3.01	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.95790	0.8630	M	0.82517	2.595	0.80722	D	1	D	0.65815	0.995	P	0.59221	0.854	D	0.95924	0.8933	10	0.62326	D	0.03	-12.2263	19.2285	0.93827	0.0:0.0:1.0:0.0	.	359	O00401	WASL_HUMAN	Q	359	ENSP00000223023:P359Q	ENSP00000223023:P359Q	P	-	2	0	WASL	123119908	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.283000	0.78640	2.532000	0.85374	0.650000	0.86243	CCA		0.672	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		31	83	1	0	1.36615e-20	1	1.47843e-20	31	83				
GJA10	84694	broad.mit.edu	37	6	90604653	90604653	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:90604653A>T	ENST00000369352.1	+	1	466	c.466A>T	c.(466-468)Act>Tct	p.T156S		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	156					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.T156A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCTGCTGCGTACTTATGTCTT	0.438																																						ENST00000369352.1																			1	Substitution - Missense(1)	p.T156A(1)	urinary_tract(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37						c.(466-468)Act>Tct		gap junction protein, alpha 10, 62kDa							133.0	128.0	130.0					6																	90604653		2203	4300	6503	SO:0001583	missense	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90604653A>T	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.466A>T	6.37:g.90604653A>T	ENSP00000358358:p.Thr156Ser		Somatic					p.T156S	NM_032602.1	NP_115991.1	WXS	Illumina GAIIx	Phase_I	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	466	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	156					B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	c.466A>T	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.824908	0.71143	.	.	ENSG00000135355	ENST00000369352	D	0.97941	-4.62	4.91	3.76	0.43208	.	0.000000	0.85682	D	0.000000	D	0.97832	0.9288	M	0.70595	2.14	0.47778	D	0.999518	D	0.89917	1.0	D	0.91635	0.999	D	0.97832	1.0263	10	0.56958	D	0.05	.	11.8107	0.52181	0.8436:0.1564:0.0:0.0	.	156	Q969M2	CXA10_HUMAN	S	156	ENSP00000358358:T156S	ENSP00000358358:T156S	T	+	1	0	GJA10	90661374	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	7.187000	0.77730	0.905000	0.36596	0.460000	0.39030	ACT		0.438	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		7	395	0	0	0	1	0	7	395				
DENND4A	10260	broad.mit.edu	37	15	65983659	65983659	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:65983659A>T	ENST00000431932.2	-	22	3349	c.3141T>A	c.(3139-3141)atT>atA	p.I1047I	DENND4A_ENST00000443035.3_Silent_p.I1090I|DENND4A_ENST00000567323.1_5'Flank	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1047					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTTCCTGGTTAATTCTATTGA	0.388																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(3268-3270)atT>atA		DENN/MADD domain containing 4A							75.0	65.0	68.0					15																	65983659		1808	4078	5886	SO:0001819	synonymous_variant	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65983659A>T	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.3141T>A	15.37:g.65983659A>T			Somatic				DENND4A_ENST00000431932.2_Silent_p.I1047I	p.I1090I	NM_001144823.1	NP_001138295.1	WXS	Illumina GAIIx	Phase_I	Q7Z401	MYCPP_HUMAN			23	3485	-			1047					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Silent	SNP	ENST00000431932.2	37	c.3270T>A	CCDS45285.1																																																																																				0.388	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		4	58	0	0	0	1	0	4	58				
ADAM22	53616	broad.mit.edu	37	7	87607649	87607649	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:87607649A>T	ENST00000265727.7	+	3	325		c.e3-1		ADAM22_ENST00000398209.3_Splice_Site|ADAM22_ENST00000315984.7_Splice_Site|ADAM22_ENST00000398204.4_Splice_Site|ADAM22_ENST00000398201.4_Splice_Site|ADAM22_ENST00000439864.1_Splice_Site			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22						adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TTGATATTGTAGTTGACTCAT	0.343																																						ENST00000398204.4																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.e3-1		ADAM metallopeptidase domain 22							174.0	153.0	160.0					7																	87607649		1867	4100	5967	SO:0001630	splice_region_variant	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87607649A>T	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.247-1A>T	7.37:g.87607649A>T			Somatic				ADAM22_ENST00000398209.3_Splice_Site|ADAM22_ENST00000265727.7_Splice_Site|ADAM22_ENST00000398201.4_Splice_Site|ADAM22_ENST00000439864.1_Splice_Site|ADAM22_ENST00000315984.7_Splice_Site		NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	WXS	Illumina GAIIx	Phase_I	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	569	+	Esophageal squamous(14;0.00202)							O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Splice_Site	SNP	ENST00000265727.7	37		CCDS47637.1	.	.	.	.	.	.	.	.	.	.	A	9.125	1.010021	0.19277	.	.	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000412441;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	.	.	.	5.43	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0263	0.36232	0.9148:0.0:0.0852:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM22	87445585	1.000000	0.71417	0.984000	0.44739	0.036000	0.12997	6.810000	0.75216	0.901000	0.36495	-0.467000	0.05162	.		0.343	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723	Intron	5	143	0	0	0	1	0	5	143				
CCDC57	284001	broad.mit.edu	37	17	80156290	80156290	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:80156290T>C	ENST00000389641.4	-	3	452	c.416A>G	c.(415-417)aAt>aGt	p.N139S	CCDC57_ENST00000392347.1_Missense_Mutation_p.N139S|CCDC57_ENST00000392343.3_Missense_Mutation_p.N139S			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	139										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AATCTCACCATTCTTGTCACT	0.413																																						ENST00000392347.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(415-417)aAt>aGt		coiled-coil domain containing 57							87.0	84.0	85.0					17																	80156290		1865	4104	5969	SO:0001583	missense	284001							g.chr17:80156290T>C	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.416A>G	17.37:g.80156290T>C	ENSP00000374292:p.Asn139Ser		Somatic				CCDC57_ENST00000392343.3_Missense_Mutation_p.N139S|CCDC57_ENST00000389641.4_Missense_Mutation_p.N139S	p.N139S	NM_198082.2	NP_932348.2	WXS	Illumina GAIIx	Phase_I	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		3	452	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		139					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37	c.416A>G		.	.	.	.	.	.	.	.	.	.	T	11.95	1.791993	0.31685	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.25579	2.97;2.97;1.79	4.96	3.89	0.44902	.	0.135877	0.48767	D	0.000179	T	0.29588	0.0738	L	0.59436	1.845	0.80722	D	1	P;P	0.52316	0.952;0.873	P;B	0.48488	0.579;0.412	T	0.02560	-1.1141	10	0.30078	T	0.28	-24.0588	8.7031	0.34338	0.0:0.0921:0.0:0.9079	.	139;139	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	S	139	ENSP00000374292:N139S;ENSP00000376158:N139S;ENSP00000376154:N139S	ENSP00000374292:N139S	N	-	2	0	CCDC57	77749579	0.832000	0.29368	0.728000	0.30774	0.855000	0.48748	1.290000	0.33319	0.746000	0.32786	0.459000	0.35465	AAT		0.413	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		9	35	0	0	0	1	0	9	35				
SLC4A4	8671	broad.mit.edu	37	4	72420894	72420894	+	Missense_Mutation	SNP	A	A	T	rs112816784		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:72420894A>T	ENST00000264485.5	+	21	2849	c.2732A>T	c.(2731-2733)tAt>tTt	p.Y911F	SLC4A4_ENST00000340595.3_Missense_Mutation_p.Y867F|SLC4A4_ENST00000425175.1_Missense_Mutation_p.Y911F|SLC4A4_ENST00000351898.6_Missense_Mutation_p.Y827F	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	911					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GTGTTCCTGTATATGGGAGTA	0.348																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2599-2601)tAt>tTt		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							285.0	283.0	283.0					4																	72420894		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72420894A>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2732A>T	4.37:g.72420894A>T	ENSP00000264485:p.Tyr911Phe		Somatic				SLC4A4_ENST00000425175.1_Missense_Mutation_p.Y911F|SLC4A4_ENST00000264485.5_Missense_Mutation_p.Y911F|SLC4A4_ENST00000351898.6_Missense_Mutation_p.Y827F	p.Y867F	NM_003759.3	NP_003750.1	WXS	Illumina GAIIx	Phase_I	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		18	2796	+			911					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.2600A>T	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.312208	0.81358	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	D;D;T;D	0.85955	-2.05;-2.05;-0.96;-2.05	5.75	5.75	0.90469	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91140	0.7210	L	0.61218	1.895	0.80722	D	1	D;B;D;D	0.89917	1.0;0.307;1.0;1.0	D;B;D;D	0.81914	0.994;0.144;0.991;0.995	D	0.91751	0.5412	10	0.66056	D	0.02	.	16.3473	0.83146	1.0:0.0:0.0:0.0	.	911;827;867;911	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	F	911;911;827;867	ENSP00000264485:Y911F;ENSP00000393557:Y911F;ENSP00000307349:Y827F;ENSP00000344272:Y867F	ENSP00000264485:Y911F	Y	+	2	0	SLC4A4	72639758	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	9.255000	0.95524	2.320000	0.78422	0.528000	0.53228	TAT		0.348	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		6	417	0	0	0	1	0	6	417				
SHMT2	6472	broad.mit.edu	37	12	57627609	57627609	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:57627609G>A	ENST00000328923.3	+	10	1653	c.1201G>A	c.(1201-1203)Gag>Aag	p.E401K	SHMT2_ENST00000393827.4_Missense_Mutation_p.E305K|SHMT2_ENST00000557487.1_Missense_Mutation_p.E391K|SHMT2_ENST00000414700.3_Missense_Mutation_p.E380K|SHMT2_ENST00000449049.3_Missense_Mutation_p.E380K|SHMT2_ENST00000553474.1_Missense_Mutation_p.E380K	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	401					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	GCGGGTGCTAGAGCTTGTATC	0.607																																					Esophageal Squamous(150;1369 2416 49071 49364)	ENST00000328923.3																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(1201-1203)Gag>Aag		serine hydroxymethyltransferase 2 (mitochondrial)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						64.0	69.0	67.0					12																	57627609		2203	4300	6503	SO:0001583	missense	6472					microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity	g.chr12:57627609G>A	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.1201G>A	12.37:g.57627609G>A	ENSP00000333667:p.Glu401Lys		Somatic				SHMT2_ENST00000393827.4_Missense_Mutation_p.E305K|SHMT2_ENST00000557487.1_Missense_Mutation_p.E391K|SHMT2_ENST00000449049.3_Missense_Mutation_p.E380K|SHMT2_ENST00000553474.1_Missense_Mutation_p.E380K|SHMT2_ENST00000414700.3_Missense_Mutation_p.E380K	p.E401K	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	WXS	Illumina GAIIx	Phase_I	P34897	GLYM_HUMAN			10	1653	+			401					B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	ENST00000328923.3	37	c.1201G>A	CCDS8934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.604436|5.604436	0.96626|0.96626	.|.	.|.	ENSG00000182199|ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000414700;ENST00000553474;ENST00000449049;ENST00000393827|ENST00000557529	T;T;T;T;T;T|.	0.46451|.	1.42;0.87;1.42;1.42;1.42;0.87|.	4.17|4.17	4.17|4.17	0.49024|0.49024	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87517|0.87517	0.6197|0.6197	H|H	0.96777|0.96777	3.88|3.88	0.80722|0.80722	D|D	1|1	D;D;D;D;P|.	0.76494|.	0.963;0.992;0.999;0.979;0.949|.	P;P;D;P;P|.	0.71184|.	0.884;0.884;0.972;0.89;0.703|.	D|D	0.91907|0.91907	0.5536|0.5536	10|5	0.87932|.	D|.	0|.	-8.4628|-8.4628	15.787|15.787	0.78315|0.78315	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	410;391;305;332;401|.	B4DWA7;Q8N1A5;B4DLV4;B4DP88;P34897|.	.;.;.;.;GLYM_HUMAN|.	K|K	401;391;380;380;380;305|200	ENSP00000333667:E401K;ENSP00000452315:E391K;ENSP00000406881:E380K;ENSP00000452419:E380K;ENSP00000413770:E380K;ENSP00000377413:E305K|.	ENSP00000333667:E401K|.	E|R	+|+	1|2	0|0	SHMT2|SHMT2	55913876|55913876	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.966000|0.966000	0.64601|0.64601	9.596000|9.596000	0.98267|0.98267	2.334000|2.334000	0.79466|0.79466	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.607	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412		13	62	0	0	0	1	0	13	62				
RTN1	6252	broad.mit.edu	37	14	60074085	60074085	+	Missense_Mutation	SNP	C	C	T	rs562790436		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:60074085C>T	ENST00000267484.5	-	4	2226	c.1891G>A	c.(1891-1893)Gca>Aca	p.A631T	RTN1_ENST00000395090.1_Missense_Mutation_p.A48T|RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_Missense_Mutation_p.A63T	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	631	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCTGAGAGTGCGGCCAGGGCC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18987	0.001		0.0	False		,,,				2504	0.0					ENST00000267484.5																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(1891-1893)Gca>Aca		reticulon 1							81.0	71.0	75.0					14																	60074085		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60074085C>T	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1891G>A	14.37:g.60074085C>T	ENSP00000267484:p.Ala631Thr		Somatic				RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_Missense_Mutation_p.A63T|RTN1_ENST00000395090.1_Missense_Mutation_p.A48T	p.A631T	NM_021136.2	NP_066959.1	WXS	Illumina GAIIx	Phase_I	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	4	2226	-			631			Reticulon.		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.1891G>A	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036110	0.75617	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000395090;ENST00000342503;ENST00000433623	T;T;T	0.45276	0.9;0.9;0.9	5.99	5.99	0.97316	.	0.145349	0.64402	D	0.000009	T	0.61652	0.2364	L	0.49350	1.555	0.54753	D	0.999983	P;D;B	0.89917	0.508;1.0;0.452	B;D;B	0.72075	0.212;0.976;0.135	T	0.56565	-0.7958	10	0.48119	T	0.1	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	48;631;63	A8MT72;Q16799;Q16799-3	.;RTN1_HUMAN;.	T	211;631;48;63;557	ENSP00000267484:A631T;ENSP00000378525:A48T;ENSP00000340716:A63T	ENSP00000267484:A631T	A	-	1	0	RTN1	59143838	1.000000	0.71417	0.276000	0.24689	0.937000	0.57800	4.837000	0.62796	2.840000	0.97914	0.655000	0.94253	GCA		0.567	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			3	143	0	0	0	1	0	3	143				
EFCAB5	374786	broad.mit.edu	37	17	28378134	28378134	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:28378134A>T	ENST00000394835.3	+	9	1392		c.e9-1		EFCAB5_ENST00000394832.2_Splice_Site|EFCAB5_ENST00000541045.1_Splice_Site|EFCAB5_ENST00000378738.3_Splice_Site|EFCAB5_ENST00000320856.5_Splice_Site|EFCAB5_ENST00000536908.2_Splice_Site	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5								calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTCTTTGCTTAGGTAGGGTTT	0.398																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.e9-1		EF-hand calcium binding domain 5							94.0	82.0	86.0					17																	28378134		1856	4092	5948	SO:0001630	splice_region_variant	374786						calcium ion binding	g.chr17:28378134A>T	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1201-1A>T	17.37:g.28378134A>T			Somatic				EFCAB5_ENST00000378738.3_Splice_Site|EFCAB5_ENST00000394832.2_Splice_Site|EFCAB5_ENST00000320856.5_Splice_Site|EFCAB5_ENST00000541045.1_Splice_Site|EFCAB5_ENST00000536908.2_Splice_Site		NM_198529.3	NP_940931.2	WXS	Illumina GAIIx	Phase_I	A4FU69	EFCB5_HUMAN			9	1392	+								B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Splice_Site	SNP	ENST00000394835.3	37		CCDS11254.2	.	.	.	.	.	.	.	.	.	.	A	15.61	2.883708	0.51908	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5373	0.61653	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EFCAB5	25402260	1.000000	0.71417	0.951000	0.38953	0.477000	0.33069	5.798000	0.69095	2.068000	0.61886	0.533000	0.62120	.		0.398	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529	Intron	4	118	0	0	0	1	0	4	118				
SLC5A12	159963	broad.mit.edu	37	11	26734255	26734255	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:26734255T>A	ENST00000396005.3	-	2	649		c.e2-2		SLC5A12_ENST00000280467.6_Splice_Site	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12						sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TTGTAAGTACTAAAGGAAACA	0.428																																						ENST00000396005.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.e2-2		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							263.0	229.0	241.0					11																	26734255		2203	4299	6502	SO:0001630	splice_region_variant	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26734255T>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.340-2A>T	11.37:g.26734255T>A			Somatic				SLC5A12_ENST00000280467.6_Splice_Site		NM_178498.3	NP_848593.2	WXS	Illumina GAIIx	Phase_I	Q1EHB4	SC5AC_HUMAN			2	649	-								Q86UC7	Splice_Site	SNP	ENST00000396005.3	37		CCDS7860.2	.	.	.	.	.	.	.	.	.	.	T	19.36	3.811802	0.70797	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.878	0.70510	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC5A12	26690831	1.000000	0.71417	0.990000	0.47175	0.741000	0.42261	7.466000	0.80914	2.040000	0.60383	0.533000	0.62120	.		0.428	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498	Intron	11	967	0	0	0	1	0	11	967				
SEC24D	9871	broad.mit.edu	37	4	119686074	119686074	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:119686074T>A	ENST00000280551.6	-	10	1419		c.e10-2		SEC24D_ENST00000379735.5_Splice_Site|SEC24D_ENST00000419654.2_Splice_Site|SEC24D_ENST00000511481.1_Splice_Site|SEC24D_ENST00000505134.1_Splice_Site			O94855	SC24D_HUMAN	SEC24 family member D						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ATGGTGGAACTAATAAAAACA	0.323																																						ENST00000379735.5																			0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.e10-2		SEC24 family member D							78.0	80.0	79.0					4																	119686074		2203	4300	6503	SO:0001630	splice_region_variant	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119686074T>A	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.1181-2A>T	4.37:g.119686074T>A			Somatic				SEC24D_ENST00000419654.2_Splice_Site|SEC24D_ENST00000505134.1_Splice_Site|SEC24D_ENST00000280551.6_Splice_Site|SEC24D_ENST00000511481.1_Splice_Site		NM_014822.2	NP_055637.2	WXS	Illumina GAIIx	Phase_I	O94855	SC24D_HUMAN			10	1455	-								Q8IYI7	Splice_Site	SNP	ENST00000280551.6	37		CCDS3710.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274498	0.80580	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000511481	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0154	0.80434	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEC24D	119905522	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.941000	0.87700	2.244000	0.73946	0.477000	0.44152	.		0.323	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4		Intron	4	113	0	0	0	1	0	4	113				
HTR1A	3350	broad.mit.edu	37	5	63257288	63257288	+	Missense_Mutation	SNP	C	C	G	rs201675006		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:63257288C>G	ENST00000323865.3	-	1	492	c.259G>C	c.(259-261)Gtg>Ctg	p.V87L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	87					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AGCACCAACACCGACACCATG	0.602																																						ENST00000323865.3																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(259-261)Gtg>Ctg		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						47.0	50.0	49.0					5																	63257288		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257288C>G	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.259G>C	5.37:g.63257288C>G	ENSP00000316244:p.Val87Leu		Somatic				RP11-158J3.2_ENST00000502882.1_RNA	p.V87L	NM_000524.3	NP_000515.2	WXS	Illumina GAIIx	Phase_I	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	492	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	87					Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.259G>C	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598758	0.66332	.	.	ENSG00000178394	ENST00000323865	T	0.32753	1.44	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.27866	0.0686	L	0.39245	1.2	0.80722	D	1	B	0.33919	0.432	B	0.37047	0.24	T	0.04029	-1.0983	10	0.12430	T	0.62	.	16.6418	0.85128	0.0:1.0:0.0:0.0	.	87	P08908	5HT1A_HUMAN	L	87	ENSP00000316244:V87L	ENSP00000316244:V87L	V	-	1	0	HTR1A	63293044	0.992000	0.36948	0.998000	0.56505	0.965000	0.64279	2.755000	0.47540	2.170000	0.68504	0.561000	0.74099	GTG		0.602	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		10	54	0	0	0	1	0	10	54				
MMD	23531	broad.mit.edu	37	17	53471706	53471706	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:53471706G>A	ENST00000262065.3	-	7	1002	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	236					cytolysis (GO:0019835)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CATAAATGCCGCATAAAGTCC	0.458																																						ENST00000262065.3																			0				breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(706-708)Cgg>Tgg		monocyte to macrophage differentiation-associated							118.0	122.0	121.0					17																	53471706		2203	4300	6503	SO:0001583	missense	23531				cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity	g.chr17:53471706G>A	X85750	CCDS11586.1	17q	2008-05-02				ENSG00000108960			7153	protein-coding gene	gene with protein product		604467				7503749, 16044242	Standard	NM_012329		Approved	MMA, PAQR11	uc002iui.3	Q15546		ENST00000262065.3:c.706C>T	17.37:g.53471706G>A	ENSP00000262065:p.Arg236Trp		Somatic					p.R236W	NM_012329.2	NP_036461.2	WXS	Illumina GAIIx	Phase_I	Q15546	PAQRB_HUMAN			7	1002	-			236					B2R6X9|D3DTY6|Q8TAN7	Missense_Mutation	SNP	ENST00000262065.3	37	c.706C>T	CCDS11586.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647525	0.47258	.	.	ENSG00000108960	ENST00000262065	.	.	.	6.06	5.08	0.68730	.	0.916312	0.09275	N	0.824547	T	0.43233	0.1238	L	0.36672	1.1	0.47153	D	0.999337	D	0.56287	0.975	B	0.33521	0.165	T	0.49331	-0.8951	9	0.72032	D	0.01	-16.4287	15.9549	0.79880	0.0:0.0:0.8643:0.1357	.	236	Q15546	PAQRB_HUMAN	W	236	.	ENSP00000262065:R236W	R	-	1	2	MMD	50826705	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.503000	0.53340	1.558000	0.49541	0.643000	0.83706	CGG		0.458	MMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439214.1			5	760	0	0	0	1	0	5	760				
GSTCD	79807	broad.mit.edu	37	4	106640215	106640215	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:106640215A>T	ENST00000515279.1	+	3	646		c.e3-1		GSTCD_ENST00000507281.1_Splice_Site|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000360505.5_Splice_Site|GSTCD_ENST00000394728.3_Splice_Site|GSTCD_ENST00000394730.3_Splice_Site			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing							extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TTTGTTTTGTAGGTTAGTCAG	0.338																																						ENST00000515279.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14						c.e3-1		glutathione S-transferase, C-terminal domain containing							54.0	62.0	59.0					4																	106640215		2192	4295	6487	SO:0001630	splice_region_variant	79807					cytoplasm	rRNA methyltransferase activity	g.chr4:106640215A>T	BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"""Glutathione S-transferase, C-terminal domain containing"""			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.427-1A>T	4.37:g.106640215A>T			Somatic				GSTCD_ENST00000360505.5_Splice_Site|GSTCD_ENST00000507281.1_Splice_Site|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394730.3_Splice_Site|GSTCD_ENST00000394728.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8NEC7	GSTCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)	3	646	+		Hepatocellular(203;0.217)						A8K8J0|A8MVD3|H9KV97|Q9H8S3	Splice_Site	SNP	ENST00000515279.1	37		CCDS43257.1	.	.	.	.	.	.	.	.	.	.	A	17.41	3.383790	0.61845	.	.	ENSG00000138780	ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000510865;ENST00000509336;ENST00000394728	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0247	0.71659	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GSTCD	106859664	1.000000	0.71417	0.983000	0.44433	0.779000	0.44077	8.400000	0.90200	2.133000	0.65898	0.482000	0.46254	.		0.338	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751	Intron	5	124	0	0	0	1	0	5	124				
PRG3	10394	broad.mit.edu	37	11	57147060	57147060	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:57147060C>T	ENST00000287143.2	-	3	391	c.282G>A	c.(280-282)agG>agA	p.R94R		NM_006093.3	NP_006084.2	Q8TBJ4	LPPR1_HUMAN	proteoglycan 3	0					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						TGTCTTCTTCCCTGGGGCACT	0.517																																					Melanoma(154;1456 2519 19358 45229)	ENST00000287143.2																			0				large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						c.(280-282)agG>agA		proteoglycan 3							132.0	115.0	121.0					11																	57147060		2201	4296	6497	SO:0001819	synonymous_variant	10394				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding	g.chr11:57147060C>T	AF132209	CCDS7954.1	11q12.1	2008-02-05			ENSG00000156575	ENSG00000156575			9363	protein-coding gene	gene with protein product		606814				10318872, 11170744	Standard	NM_006093		Approved	MBPH	uc001njv.2	Q9Y2Y8	OTTHUMG00000167026	ENST00000287143.2:c.282G>A	11.37:g.57147060C>T			Somatic					p.R94R	NM_006093.3	NP_006084.2	WXS	Illumina GAIIx	Phase_I	Q9Y2Y8	PRG3_HUMAN			3	391	-			94					Q5VX23|Q9NXE2	Silent	SNP	ENST00000287143.2	37	c.282G>A	CCDS7954.1																																																																																				0.517	PRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392467.1	NM_006093		7	28	0	0	0	1	0	7	28				
TMX1	81542	broad.mit.edu	37	14	51721153	51721153	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:51721153T>A	ENST00000457354.2	+	8	884	c.759T>A	c.(757-759)agT>agA	p.S253R	Y_RNA_ENST00000364950.1_RNA	NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	253					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide isomerase activity (GO:0003756)			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						AAGCTGAAAGTAAAGAAGGAA	0.363																																						ENST00000457354.2																			0				endometrium(2)|large_intestine(2)|urinary_tract(1)	5						c.(757-759)agT>agA		thioredoxin-related transmembrane protein 1							106.0	102.0	103.0					14																	51721153		1855	4098	5953	SO:0001583	missense	81542				anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity	g.chr14:51721153T>A	AB048246	CCDS41953.1	14q22.1	2011-10-19	2009-02-23	2009-02-23				"""Protein disulfide isomerases"""	15487	protein-coding gene	gene with protein product	"""thioredoxin-related transmembrane protein"", ""protein disulfide isomerase family A, member 11"""	610527	"""thioredoxin domain-containing"", ""thioredoxin domain containing"", ""thioredoxin domain containing 1"""	TXNDC, TXNDC1		11152479	Standard	NM_030755		Approved	TMX, PDIA11	uc001wza.4	Q9H3N1		ENST00000457354.2:c.759T>A	14.37:g.51721153T>A	ENSP00000393316:p.Ser253Arg		Somatic					p.S253R	NM_030755.4	NP_110382.3	WXS	Illumina GAIIx	Phase_I	Q9H3N1	TMX1_HUMAN			8	884	+			253					B2R7A4|Q8N487|Q8NBN5|Q9Y4T6	Missense_Mutation	SNP	ENST00000457354.2	37	c.759T>A	CCDS41953.1	.	.	.	.	.	.	.	.	.	.	T	2.424	-0.332454	0.05314	.	.	ENSG00000139921	ENST00000457354	T	0.14391	2.51	5.3	-7.98	0.01135	.	1.174270	0.05784	N	0.609211	T	0.04634	0.0126	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45011	-0.9290	10	0.15066	T	0.55	0.1161	9.5504	0.39306	0.0:0.2404:0.5859:0.1737	.	169;253	B4DZX7;Q9H3N1	.;TMX1_HUMAN	R	253	ENSP00000393316:S253R	ENSP00000393316:S253R	S	+	3	2	TMX1	50790903	0.000000	0.05858	0.001000	0.08648	0.337000	0.28794	-0.735000	0.04888	-0.901000	0.03891	-0.376000	0.06991	AGT		0.363	TMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411206.1	NM_030755		4	141	0	0	0	1	0	4	141				
PPAPDC1A	196051	broad.mit.edu	37	10	122334715	122334715	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:122334715G>A	ENST00000398250.1	+	6	870	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.R163Q|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.R110Q|PPAPDC1A_ENST00000496437.1_3'UTR|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.R173Q	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	173					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GAGAGTGGGCGGGGAAAGAGC	0.577																																						ENST00000398250.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20						c.(517-519)cGg>cAg		phosphatidic acid phosphatase type 2 domain containing 1A							95.0	98.0	97.0					10																	122334715		2120	4246	6366	SO:0001583	missense	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122334715G>A	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.518G>A	10.37:g.122334715G>A	ENSP00000381302:p.Arg173Gln		Somatic				PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.R110Q|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.R163Q|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.R173Q|PPAPDC1A_ENST00000496437.1_3'UTR	p.R173Q	NM_001030059.1	NP_001025230.1	WXS	Illumina GAIIx	Phase_I	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	6	870	+		Lung NSC(174;0.1)|all_lung(145;0.132)	173					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	c.518G>A	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973800	0.74246	.	.	ENSG00000203805	ENST00000439221;ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073	T;T;T;T	0.51817	0.69;0.7;0.72;0.69	5.52	5.52	0.82312	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.057717	0.64402	D	0.000001	T	0.39759	0.1090	L	0.49640	1.575	0.80722	D	1	P;P;B	0.40909	0.732;0.591;0.212	B;B;B	0.34418	0.182;0.049;0.087	T	0.34204	-0.9838	10	0.42905	T	0.14	-18.4168	12.7432	0.57266	0.075:0.0:0.925:0.0	.	173;110;173	B7Z3R3;Q5VZY2-2;Q5VZY2	.;.;PPC1A_HUMAN	Q	110;173;173;173;163	ENSP00000381302:R173Q;ENSP00000407979:R173Q;ENSP00000440493:R173Q;ENSP00000358069:R163Q	ENSP00000358069:R163Q	R	+	2	0	PPAPDC1A	122324705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.740000	0.74832	2.603000	0.88011	0.655000	0.94253	CGG		0.577	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		5	325	0	0	0	1	0	5	325				
UBR5	51366	broad.mit.edu	37	8	103317335	103317335	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:103317335A>T	ENST00000520539.1	-	21	3411	c.2805T>A	c.(2803-2805)aaT>aaA	p.N935K	UBR5_ENST00000220959.4_Missense_Mutation_p.N935K|UBR5_ENST00000521922.1_Missense_Mutation_p.N929K	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	935					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TAGTTTCTTTATTGCTGGTTG	0.358																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(2803-2805)aaT>aaA		ubiquitin protein ligase E3 component n-recognin 5							137.0	133.0	135.0					8																	103317335		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103317335A>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.2805T>A	8.37:g.103317335A>T	ENSP00000429084:p.Asn935Lys		Somatic				UBR5_ENST00000220959.4_Missense_Mutation_p.N935K|UBR5_ENST00000521922.1_Missense_Mutation_p.N929K	p.N935K	NM_015902.5	NP_056986.2	WXS	Illumina GAIIx	Phase_I	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		21	3411	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		935					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.2805T>A	CCDS34933.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.2|23.2	4.387229|4.387229	0.82902|0.82902	.|.	.|.	ENSG00000104517|ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922|ENST00000520898;ENST00000519365	T;T;T|.	0.49432|.	0.78;0.78;0.78|.	5.41|5.41	3.07|3.07	0.35406|0.35406	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.60117|.	0.2244|.	M|M	0.66297|0.66297	2.02|2.02	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.57899|.	0.981;0.981|.	D;D|.	0.65140|.	0.932;0.932|.	T|.	0.56842|.	-0.7912|.	10|.	0.87932|.	D|.	0|.	.|.	5.8283|5.8283	0.18566|0.18566	0.6161:0.0:0.3839:0.0|0.6161:0.0:0.3839:0.0	.|.	929;935|.	E7EMW7;O95071|.	.;UBR5_HUMAN|.	K|K	935;935;929|26;51	ENSP00000429084:N935K;ENSP00000220959:N935K;ENSP00000427819:N929K|.	ENSP00000220959:N935K|.	N|X	-|-	3|1	2|0	UBR5|UBR5	103386511|103386511	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	3.437000|3.437000	0.52863|0.52863	0.906000|0.906000	0.36621|0.36621	0.254000|0.254000	0.18369|0.18369	AAT|TAA		0.358	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		7	303	0	0	0	1	0	7	303				
HERC3	8916	broad.mit.edu	37	4	89577156	89577156	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:89577156G>A	ENST00000402738.1	+	9	1278	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T	HERC3_ENST00000407637.1_Missense_Mutation_p.A347T|HERC3_ENST00000543130.1_5'Flank|HERC3_ENST00000264345.3_Missense_Mutation_p.A347T	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	347					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TTACTGGGCTGCCCACAGTGG	0.433																																						ENST00000402738.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45						c.(1039-1041)Gcc>Acc		HECT and RLD domain containing E3 ubiquitin protein ligase 3							104.0	97.0	99.0					4																	89577156		2203	4300	6503	SO:0001583	missense	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89577156G>A	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.1039G>A	4.37:g.89577156G>A	ENSP00000385684:p.Ala347Thr		Somatic				HERC3_ENST00000264345.3_Missense_Mutation_p.A347T|HERC3_ENST00000407637.1_Missense_Mutation_p.A347T	p.A347T	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	WXS	Illumina GAIIx	Phase_I	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	9	1278	+			347					A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	c.1039G>A	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279780	0.40294	.	.	ENSG00000138641	ENST00000402738;ENST00000407637;ENST00000264345	T;T;T	0.80123	-1.34;0.95;-1.34	4.77	4.77	0.60923	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.331843	0.32258	N	0.006352	T	0.52885	0.1762	N	0.01576	-0.805	0.80722	D	1	B;P	0.39809	0.002;0.689	B;B	0.26094	0.014;0.066	T	0.62338	-0.6875	10	0.24483	T	0.36	.	18.0029	0.89202	0.0:0.0:1.0:0.0	.	347;347	Q15034;Q8IXX3	HERC3_HUMAN;.	T	347	ENSP00000385684:A347T;ENSP00000384005:A347T;ENSP00000264345:A347T	ENSP00000264345:A347T	A	+	1	0	HERC3	89796179	1.000000	0.71417	0.987000	0.45799	0.985000	0.73830	6.245000	0.72398	2.489000	0.83994	0.655000	0.94253	GCC		0.433	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		5	161	0	0	0	1	0	5	161				
MUC16	94025	broad.mit.edu	37	19	9082937	9082937	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:9082937C>A	ENST00000397910.4	-	1	9081	c.8878G>T	c.(8878-8880)Gaa>Taa	p.E2960*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2961	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAGGGGTTTCAGTAAAACCT	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(8878-8880)Gaa>Taa		mucin 16, cell surface associated							114.0	111.0	112.0					19																	9082937		1991	4195	6186	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9082937C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8878G>T	19.37:g.9082937C>A	ENSP00000381008:p.Glu2960*		Somatic					p.E2960*	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			1	9081	-			2961			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.8878G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	50	16.325286	0.99860	.	.	ENSG00000181143	ENST00000397910	.	.	.	0.723	-0.501	0.12008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	2960	.	ENSP00000381008:E2960X	E	-	1	0	MUC16	8943937	0.002000	0.14202	0.008000	0.14137	0.273000	0.26683	-0.193000	0.09573	-0.124000	0.11724	-0.736000	0.03550	GAA		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	275	1	0	0.000442599	1	0.000457063	8	275				
ASPM	259266	broad.mit.edu	37	1	197093276	197093276	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:197093276A>T	ENST00000367409.4	-	13	3610	c.3354T>A	c.(3352-3354)gaT>gaA	p.D1118E	ASPM_ENST00000294732.7_Missense_Mutation_p.D1118E|ASPM_ENST00000367408.1_Missense_Mutation_p.D368E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1118	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CATTTACCCAATCCATCAATA	0.274																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(3352-3354)gaT>gaA		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							93.0	93.0	93.0					1																	197093276		2202	4288	6490	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197093276A>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3354T>A	1.37:g.197093276A>T	ENSP00000356379:p.Asp1118Glu		Somatic				ASPM_ENST00000367408.1_Missense_Mutation_p.D368E|ASPM_ENST00000294732.7_Missense_Mutation_p.D1118E	p.D1118E	NM_018136.4	NP_060606.3	WXS	Illumina GAIIx	Phase_I	Q8IZT6	ASPM_HUMAN			13	3610	-			1118			CH 2.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.3354T>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.217878	0.39201	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.58652	0.32;0.32;0.32	5.62	-11.2	0.00127	Calponin homology domain (4);	0.472699	0.21551	N	0.072723	T	0.22936	0.0554	N	0.21194	0.64	0.24000	N	0.99622	B;P	0.40660	0.022;0.726	B;B	0.32583	0.007;0.148	T	0.19257	-1.0311	10	0.26408	T	0.33	.	4.0278	0.09695	0.2166:0.3492:0.3133:0.1208	.	1118;1118	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	E	1118;1118;368	ENSP00000356379:D1118E;ENSP00000294732:D1118E;ENSP00000356378:D368E	ENSP00000294732:D1118E	D	-	3	2	ASPM	195359899	0.186000	0.23225	0.465000	0.27155	0.999000	0.98932	-0.405000	0.07196	-2.134000	0.00812	0.528000	0.53228	GAT		0.274	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		10	68	0	0	0	1	0	10	68				
MCMBP	79892	broad.mit.edu	37	10	121587100	121587100	+	IGR	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:121587100T>A	ENST00000360003.3	-	0	4113				INPP5F_ENST00000361976.2_Silent_p.S1069S|INPP5F_ENST00000369080.3_Silent_p.S459S	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						GAGCAGTCTCTCCCTTTGCCA	0.478																																						ENST00000361976.2																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(3205-3207)tcT>tcA		inositol polyphosphate-5-phosphatase F							101.0	100.0	101.0					10																	121587100		2203	4300	6503	SO:0001628	intergenic_variant	22876						phosphoric ester hydrolase activity	g.chr10:121587100T>A	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121587100T>A			Somatic				INPP5F_ENST00000369080.3_Silent_p.S459S	p.S1069S	NM_014937.3	NP_055752.1	WXS	Illumina GAIIx	Phase_I	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	20	3373	+		Lung NSC(174;0.109)|all_lung(145;0.142)	1069					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Silent	SNP	ENST00000360003.3	37	c.3207T>A	CCDS7617.1																																																																																				0.478	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		53	161	0	0	0	1	0	53	161				
IL23R	149233	broad.mit.edu	37	1	67666418	67666418	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:67666418A>T	ENST00000347310.5	+	5	662		c.e5-1		C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Splice_Site	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor						defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)		p.?(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TTTTGTTTTAAGTTTAGAGAC	0.373																																						ENST00000347310.5																			1	Unknown(1)	p.?(1)	urinary_tract(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						c.e5-1		interleukin 23 receptor							67.0	68.0	68.0					1																	67666418		2203	4300	6503	SO:0001630	splice_region_variant	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67666418A>T	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.492-1A>T	1.37:g.67666418A>T			Somatic				IL23R_ENST00000371002.1_Splice_Site|C1orf141_ENST00000371007.2_Intron		NM_144701.2	NP_653302.2	WXS	Illumina GAIIx	Phase_I	Q5VWK5	IL23R_HUMAN			5	662	+								C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Splice_Site	SNP	ENST00000347310.5	37		CCDS637.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336879	0.60963	.	.	ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000441823;ENST00000416525;ENST00000540911;ENST00000371002;ENST00000543799	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8155	0.57663	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL23R	67439006	0.997000	0.39634	0.966000	0.40874	0.749000	0.42624	4.736000	0.62059	2.279000	0.76181	0.533000	0.62120	.		0.373	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701	Intron	6	124	0	0	0	1	0	6	124				
COPA	1314	broad.mit.edu	37	1	160263026	160263026	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:160263026T>A	ENST00000241704.7	-	27	2984		c.e27-2		COPA_ENST00000368069.3_Splice_Site	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha						COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACACCAGATCTAACAAGAAAC	0.418																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.e27-2		coatomer protein complex, subunit alpha							70.0	73.0	72.0					1																	160263026		2203	4300	6503	SO:0001630	splice_region_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160263026T>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.2755-2A>T	1.37:g.160263026T>A			Somatic				COPA_ENST00000368069.3_Splice_Site		NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	WXS	Illumina GAIIx	Phase_I	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		27	2984	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)							Q5T201|Q8IXZ9	Splice_Site	SNP	ENST00000241704.7	37		CCDS1202.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176514	0.78564	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5724	0.68220	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COPA	158529650	1.000000	0.71417	0.991000	0.47740	0.894000	0.52154	5.914000	0.69964	2.367000	0.80283	0.528000	0.53228	.		0.418	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371	Intron	5	185	0	0	0	1	0	5	185				
TMEM209	84928	broad.mit.edu	37	7	129841933	129841933	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:129841933T>A	ENST00000397622.2	-	5	454		c.e5-2		TMEM209_ENST00000336804.8_Splice_Site|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_Splice_Site|TMEM209_ENST00000473456.1_Splice_Site	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209							integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					TCTGTACAACTAGAAGGAAAA	0.388																																						ENST00000397622.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12						c.e5-2		transmembrane protein 209							53.0	52.0	52.0					7																	129841933		1898	4122	6020	SO:0001630	splice_region_variant	84928					integral to membrane		g.chr7:129841933T>A		CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.332-2A>T	7.37:g.129841933T>A			Somatic				TMEM209_ENST00000473456.1_Splice_Site|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_Splice_Site|TMEM209_ENST00000336804.8_Splice_Site		NM_032842.3	NP_116231.2	WXS	Illumina GAIIx	Phase_I	Q96SK2	TM209_HUMAN			5	454	-	Melanoma(18;0.0435)							A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Splice_Site	SNP	ENST00000397622.2	37		CCDS47712.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311125	0.60414	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804;ENST00000484249;ENST00000471985	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8362	0.63410	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM209	129629169	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	7.281000	0.78621	2.204000	0.70986	0.383000	0.25322	.		0.388	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349339.1	NM_032842	Intron	4	132	0	0	0	1	0	4	132				
BRCA2	675	broad.mit.edu	37	13	32944606	32944606	+	Missense_Mutation	SNP	C	C	G	rs80359087		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr13:32944606C>G	ENST00000380152.3	+	19	8632	c.8399C>G	c.(8398-8400)cCt>cGt	p.P2800R	BRCA2_ENST00000544455.1_Missense_Mutation_p.P2800R			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2800					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GACCCTAGACCTTTTCCTCTG	0.383			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(8398-8400)cCt>cGt	Homologous recombination	breast cancer 2, early onset							174.0	162.0	166.0					13																	32944606		2203	4300	6503	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32944606C>G	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8399C>G	13.37:g.32944606C>G	ENSP00000369497:p.Pro2800Arg	TCGA Ovarian(8;0.087)	Somatic				BRCA2_ENST00000380152.3_Missense_Mutation_p.P2800R	p.P2800R	NM_000059.3	NP_000050.2	WXS	Illumina GAIIx	Phase_I	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	19	8626	+		Lung SC(185;0.0262)	2800					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.8399C>G	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740779	0.89573	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.80909	-1.43;-1.43	5.19	5.19	0.71726	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	D	0.90995	0.7168	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92372	0.5906	10	0.87932	D	0	.	18.729	0.91728	0.0:1.0:0.0:0.0	.	2800	P51587	BRCA2_HUMAN	R	2800	ENSP00000369497:P2800R;ENSP00000439902:P2800R	ENSP00000369497:P2800R	P	+	2	0	BRCA2	31842606	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	7.767000	0.85331	2.421000	0.82119	0.555000	0.69702	CCT		0.383	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		26	294	0	0	0	1	0	26	294				
ARHGAP21	57584	broad.mit.edu	37	10	24874692	24874692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:24874692G>T	ENST00000396432.2	-	26	5012	c.4526C>A	c.(4525-4527)tCa>tAa	p.S1509*		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1508					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTTGTGTTTTGAGTTGTGTGG	0.488																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(4525-4527)tCa>tAa		Rho GTPase activating protein 21							275.0	243.0	254.0					10																	24874692		2203	4300	6503	SO:0001587	stop_gained	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874692G>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4526C>A	10.37:g.24874692G>T	ENSP00000379709:p.Ser1509*		Somatic					p.S1509*	NM_020824.3	NP_065875.3	WXS	Illumina GAIIx	Phase_I	Q5T5U3	RHG21_HUMAN			26	5012	-			1508					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Nonsense_Mutation	SNP	ENST00000396432.2	37	c.4526C>A	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	44	10.800520	0.99470	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	.	.	.	4.47	4.47	0.54385	.	0.858387	0.10257	N	0.696485	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1068	0.20077	0.097:0.0:0.6573:0.2456	.	.	.	.	X	1509;958	.	ENSP00000379709:S1509X	S	-	2	0	ARHGAP21	24914698	0.990000	0.36364	0.002000	0.10522	0.003000	0.03518	3.480000	0.53172	2.026000	0.59711	0.543000	0.68304	TCA		0.488	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		6	682	1	0	1.6384e-10	1	1.72578e-10	6	682				
CCDC163P	126661	broad.mit.edu	37	1	45962262	45962262	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:45962262G>C	ENST00000432082.1	-	4	660	c.296C>G	c.(295-297)gCt>gGt	p.A99G	CCDC163P_ENST00000502793.2_5'UTR|CCDC163P_ENST00000490551.3_Missense_Mutation_p.A99G|CCDC163P_ENST00000488405.2_Missense_Mutation_p.A99G					coiled-coil domain containing 163, pseudogene											cervix(1)|endometrium(1)	2						TCGTCCCTCAGCCAGCTGTTT	0.527																																						ENST00000490551.3																			0				cervix(1)|endometrium(1)	2						c.(295-297)gCt>gGt									57.0	63.0	61.0					1																	45962262		2004	4175	6179	SO:0001583	missense	126661							g.chr1:45962262G>C	BC047421		1p34.1	2010-06-14	2009-12-17	2009-12-17	ENSG00000236624	ENSG00000236624			27003	pseudogene	pseudogene			"""chromosome 1 open reading frame 231"""	C1orf231		18672041	Standard	NR_033296		Approved	LOC126661	uc001cnw.3		OTTHUMG00000007741	ENST00000432082.1:c.296C>G	1.37:g.45962262G>C	ENSP00000435596:p.Ala99Gly		Somatic				CCDC163P_ENST00000488405.2_Missense_Mutation_p.A99G|CCDC163P_ENST00000502793.2_5'UTR|CCDC163P_ENST00000432082.1_Missense_Mutation_p.A99G	p.A99G			WXS	Illumina GAIIx	Phase_I					4	660	-									Missense_Mutation	SNP	ENST00000432082.1	37	c.296C>G		.	.	.	.	.	.	.	.	.	.	G	15.70	2.909948	0.52439	.	.	ENSG00000236624	ENST00000490551;ENST00000432082;ENST00000488405	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.30675	N	0.752961	P;P	0.49961	0.93;0.93	P;P	0.52823	0.71;0.71	T	0.60219	-0.7306	7	0.56958	D	0.05	.	14.239	0.65945	0.0:0.0:1.0:0.0	.	99;99	E9PLD6;F2Z3K3	.;.	G	99	.	ENSP00000431736:A99G	A	-	2	0	CCDC163P	45734849	1.000000	0.71417	0.604000	0.28916	0.062000	0.15995	4.082000	0.57635	2.823000	0.97156	0.637000	0.83480	GCT		0.527	CCDC163P-006	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000349850.4	NM_001102601		14	38	0	0	0	1	0	14	38				
SENP6	26054	broad.mit.edu	37	6	76380267	76380267	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:76380267A>T	ENST00000447266.2	+	11	1702		c.e11-1		SENP6_ENST00000370014.3_Splice_Site|SENP6_ENST00000541192.1_Splice_Site|SENP6_ENST00000327284.8_Splice_Site|SENP6_ENST00000370010.2_Splice_Site	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6						protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTTCCTTTTTAGTTTGGCAAT	0.323																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.e11-1		SUMO1/sentrin specific peptidase 6							74.0	65.0	68.0					6																	76380267		1803	4074	5877	SO:0001630	splice_region_variant	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76380267A>T		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1225-1A>T	6.37:g.76380267A>T			Somatic				SENP6_ENST00000541192.1_Splice_Site|SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000447266.2_Splice_Site|SENP6_ENST00000327284.8_Splice_Site		NM_001100409.1	NP_001093879.1	WXS	Illumina GAIIx	Phase_I	Q9GZR1	SENP6_HUMAN			11	1843	+		all_hematologic(105;0.189)						A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Splice_Site	SNP	ENST00000447266.2	37		CCDS47454.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.921043	0.73213	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8735	0.79141	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SENP6	76436987	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.414000	0.73318	2.149000	0.67028	0.533000	0.62120	.		0.323	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571	Intron	8	68	0	0	0	1	0	8	68				
LRRN3	54674	broad.mit.edu	37	7	110764578	110764578	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:110764578A>G	ENST00000422987.3	+	2	2581	c.1750A>G	c.(1750-1752)Aat>Gat	p.N584D	IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.N584D|LRRN3_ENST00000451085.1_Missense_Mutation_p.N584D|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	584	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TACTCATCTGAATCCATCAAC	0.363																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(1750-1752)Aat>Gat		leucine rich repeat neuronal 3							51.0	48.0	49.0					7																	110764578		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110764578A>G	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1750A>G	7.37:g.110764578A>G	ENSP00000412417:p.Asn584Asp		Somatic				IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.N584D|LRRN3_ENST00000422987.3_Missense_Mutation_p.N584D|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron	p.N584D	NM_001099660.1	NP_001093130.1	WXS	Illumina GAIIx	Phase_I	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	2796	+			584			Fibronectin type-III.		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.1750A>G	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.383380	0.25031	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.56776	0.44;0.44;0.44	6.13	4.92	0.64577	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.582024	0.17040	N	0.189353	T	0.42675	0.1213	L	0.36672	1.1	0.28953	N	0.890317	B	0.17852	0.024	B	0.24701	0.055	T	0.26430	-1.0103	10	0.13470	T	0.59	.	13.2493	0.60041	0.8678:0.1322:0.0:0.0	.	584	Q9H3W5	LRRN3_HUMAN	D	584	ENSP00000312001:N584D;ENSP00000397312:N584D;ENSP00000412417:N584D	ENSP00000312001:N584D	N	+	1	0	LRRN3	110551814	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.659000	0.61504	2.367000	0.80283	0.529000	0.55759	AAT		0.363	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		8	46	0	0	0	1	0	8	46				
PTPN13	5783	broad.mit.edu	37	4	87703387	87703387	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:87703387C>T	ENST00000411767.2	+	37	6059	c.5996C>T	c.(5995-5997)gCc>gTc	p.A1999V	PTPN13_ENST00000316707.6_Missense_Mutation_p.A1808V|PTPN13_ENST00000436978.1_Missense_Mutation_p.A2004V|PTPN13_ENST00000511467.1_Missense_Mutation_p.A2004V|PTPN13_ENST00000427191.2_Missense_Mutation_p.A1980V			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1999					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGCCAGCCTGCCCTCACTCCT	0.453																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6010-6012)gCc>gTc		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							155.0	149.0	151.0					4																	87703387		1939	4121	6060	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87703387C>T		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5996C>T	4.37:g.87703387C>T	ENSP00000407249:p.Ala1999Val		Somatic				PTPN13_ENST00000316707.6_Missense_Mutation_p.A1808V|PTPN13_ENST00000411767.2_Missense_Mutation_p.A1999V|PTPN13_ENST00000511467.1_Missense_Mutation_p.A2004V|PTPN13_ENST00000427191.2_Missense_Mutation_p.A1980V	p.A2004V	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	WXS	Illumina GAIIx	Phase_I	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	37	6491	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1999					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.6011C>T	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.448102	0.26074	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.53423	0.62;0.65;0.73;0.63;0.65	4.98	2.15	0.27550	.	0.816569	0.10474	N	0.670388	T	0.38585	0.1046	L	0.28115	0.83	0.09310	N	1	B;B;B;B	0.22414	0.069;0.021;0.026;0.045	B;B;B;B	0.27715	0.082;0.014;0.014;0.019	T	0.37033	-0.9723	10	0.51188	T	0.08	.	12.9582	0.58442	0.0:0.4701:0.5299:0.0	.	1808;1980;1999;2004	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	V	1980;2004;1808;1999;2004;1948	ENSP00000408368:A1980V;ENSP00000394794:A2004V;ENSP00000322675:A1808V;ENSP00000407249:A1999V;ENSP00000426626:A2004V	ENSP00000322675:A1808V	A	+	2	0	PTPN13	87922411	0.000000	0.05858	0.010000	0.14722	0.243000	0.25628	-0.165000	0.09968	0.301000	0.22738	-0.182000	0.12963	GCC		0.453	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			5	254	0	0	0	1	0	5	254				
EFCC1	79825	broad.mit.edu	37	3	128757716	128757716	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:128757716C>T	ENST00000480450.1	+	7	1633	c.1633C>T	c.(1633-1635)Ctg>Ttg	p.L545L	EFCC1_ENST00000436022.2_Silent_p.L108L			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	545							calcium ion binding (GO:0005509)										GCTGAGCACGCTGGACGCTTT	0.547																																						ENST00000436022.2																			0											c.(322-324)Ctg>Ttg		EF-hand and coiled-coil domain containing 1							87.0	93.0	91.0					3																	128757716		2203	4300	6503	SO:0001819	synonymous_variant	79825							g.chr3:128757716C>T	AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"""EF-hand domain containing"""	25692	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 73"", ""coiled-coil domain containing 48"""	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1633C>T	3.37:g.128757716C>T			Somatic				EFCC1_ENST00000480450.1_Silent_p.L545L	p.L108L	NM_024768.2	NP_079044.2	WXS	Illumina GAIIx	Phase_I					7	1633	+								A8MYE2	Silent	SNP	ENST00000480450.1	37	c.322C>T	CCDS3054.2																																																																																				0.547	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352832.1	NM_024768		19	88	0	0	0	1	0	19	88				
MAP3K12	7786	broad.mit.edu	37	12	53880961	53880961	+	Intron	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:53880961G>T	ENST00000267079.2	-	3	363				MAP3K12_ENST00000547488.1_Missense_Mutation_p.P72H|MAP3K12_ENST00000547151.1_Intron|MAP3K12_ENST00000547035.1_Missense_Mutation_p.P72H	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AGGCTCAGGGGGCGGCTCTCC	0.647																																						ENST00000547035.1																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(214-216)cCc>cAc		mitogen-activated protein kinase kinase kinase 12							44.0	45.0	44.0					12																	53880961		2203	4300	6503	SO:0001627	intron_variant	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53880961G>T	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.138-22C>A	12.37:g.53880961G>T			Somatic				MAP3K12_ENST00000547151.1_Intron|MAP3K12_ENST00000547488.1_Missense_Mutation_p.P72H|MAP3K12_ENST00000267079.2_Intron	p.P72H			WXS	Illumina GAIIx	Phase_I	Q12852	M3K12_HUMAN			2	419	-			46					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.215C>A	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.086968	0.36855	.	.	ENSG00000139625	ENST00000547488;ENST00000547035	T;T	0.75704	-0.96;-0.96	5.14	5.14	0.70334	.	.	.	.	.	T	0.58235	0.2108	N	0.14661	0.345	0.25012	N	0.991393	P	0.45957	0.869	B	0.39217	0.294	T	0.53906	-0.8372	9	0.41790	T	0.15	.	12.8177	0.57675	0.0:0.0:0.8363:0.1637	.	72	G3V1Y2	.	H	72	ENSP00000449038:P72H;ENSP00000448689:P72H	ENSP00000448689:P72H	P	-	2	0	MAP3K12	52167228	1.000000	0.71417	0.994000	0.49952	0.945000	0.59286	2.995000	0.49441	2.584000	0.87258	0.462000	0.41574	CCC		0.647	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		6	54	1	0	1.33987e-11	1	1.4208e-11	6	54				
CASP9	842	broad.mit.edu	37	1	15844782	15844782	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:15844782C>A	ENST00000333868.5	-	2	335	c.241G>T	c.(241-243)Ggc>Tgc	p.G81C	CASP9_ENST00000469637.1_5'UTR|CASP9_ENST00000546424.1_Missense_Mutation_p.G81C|CASP9_ENST00000375890.4_De_novo_Start_OutOfFrame|CASP9_ENST00000348549.5_Missense_Mutation_p.G81C	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	81	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		ATGTCCTGGCCTGTGTCCTCT	0.542																																						ENST00000375890.4																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18								caspase 9, apoptosis-related cysteine peptidase							99.0	90.0	93.0					1																	15844782		2203	4300	6503	SO:0001583	missense	842				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding	g.chr1:15844782C>A	U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 56"""	602234	"""caspase 9, apoptosis-related cysteine protease"""			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.241G>T	1.37:g.15844782C>A	ENSP00000330237:p.Gly81Cys		Somatic				CASP9_ENST00000469637.1_5'UTR|CASP9_ENST00000546424.1_Missense_Mutation_p.G81C|CASP9_ENST00000333868.5_Missense_Mutation_p.G81C|CASP9_ENST00000348549.5_Missense_Mutation_p.G81C		NM_032996.2	NP_127463.2	WXS	Illumina GAIIx	Phase_I	P55211	CASP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)	0	252	-		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)						B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Translation_Start_Site	SNP	ENST00000333868.5	37		CCDS158.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420812	0.62622	.	.	ENSG00000132906	ENST00000546424;ENST00000333868;ENST00000348549;ENST00000440484	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.5	5.5	0.81552	DEATH-like (2);Caspase Recruitment (3);	0.149853	0.64402	D	0.000011	T	0.70202	0.3197	M	0.80847	2.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.996	T	0.74163	-0.3754	10	0.87932	D	0	.	14.8796	0.70522	0.0:1.0:0.0:0.0	.	81;81;81	P55211-2;P55211;F8VVS7	.;CASP9_HUMAN;.	C	81	ENSP00000449584:G81C;ENSP00000330237:G81C;ENSP00000255256:G81C;ENSP00000411304:G81C	ENSP00000330237:G81C	G	-	1	0	CASP9	15717369	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	4.876000	0.63079	2.587000	0.87381	0.563000	0.77884	GGC		0.542	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1	NM_032996		7	182	1	0	0.307466	1	0.308442	7	182				
MACF1	23499	broad.mit.edu	37	1	39908161	39908161	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:39908161T>C	ENST00000372915.3	+	76	18810	c.18723T>C	c.(18721-18723)caT>caC	p.H6241H	MACF1_ENST00000567887.1_Silent_p.H6379H|MACF1_ENST00000564288.1_Silent_p.H6342H|MACF1_ENST00000289893.4_Silent_p.H4785H|MACF1_ENST00000539005.1_Silent_p.H4153H|MACF1_ENST00000317713.7_Silent_p.H4283H|MACF1_ENST00000545844.1_Silent_p.H4283H|MACF1_ENST00000361689.2_Silent_p.H4283H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6241					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCTGACTCATACCGAAGAGT	0.438																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(19024-19026)caT>caC		microtubule-actin crosslinking factor 1							66.0	67.0	66.0					1																	39908161		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39908161T>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18723T>C	1.37:g.39908161T>C			Somatic				MACF1_ENST00000567887.1_Silent_p.H6379H|MACF1_ENST00000545844.1_Silent_p.H4283H|MACF1_ENST00000289893.4_Silent_p.H4785H|MACF1_ENST00000317713.7_Silent_p.H4283H|MACF1_ENST00000539005.1_Silent_p.H4153H|MACF1_ENST00000361689.2_Silent_p.H4283H|MACF1_ENST00000372915.3_Silent_p.H6241H	p.H6342H			WXS	Illumina GAIIx	Phase_I	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		77	19803	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6350					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.19026T>C		.	.	.	.	.	.	.	.	.	.	T	7.388	0.630176	0.14257	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.03	3.07	0.35406	.	.	.	.	.	T	0.60495	0.2273	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56980	-0.7889	4	.	.	.	.	10.9178	0.47146	0.0:0.7977:0.0:0.2023	.	.	.	.	H	3287	.	.	Y	+	1	0	MACF1	39680748	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.727000	0.47311	0.876000	0.35872	-0.177000	0.13119	TAC		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		12	159	0	0	0	1	0	12	159				
PTGER3	5733	broad.mit.edu	37	1	71418744	71418744	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:71418744T>A	ENST00000414819.1	-	5	1427		c.e5-2		PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000356595.4_Splice_Site|RP3-333A15.1_ENST00000426775.1_RNA	NM_001126044.1	NP_001119516.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)						cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	gcagattaactaaccacagat	0.313																																						ENST00000414819.1																			0				endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.e5-2		prostaglandin E receptor 3 (subtype EP3)	Bimatoprost(DB00905)						106.0	94.0	98.0					1																	71418744		2203	4300	6503	SO:0001630	splice_region_variant	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71418744T>A	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000414819.1:c.1171-2A>T	1.37:g.71418744T>A			Somatic				PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000356595.4_Splice_Site|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000370932.2_Intron		NM_001126044.1	NP_001119516.1	WXS	Illumina GAIIx	Phase_I	P43115	PE2R3_HUMAN			5	1427	-								B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Splice_Site	SNP	ENST00000414819.1	37		CCDS656.1																																																																																				0.313	PTGER3-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026077.1	NM_000957	Intron	9	150	0	0	0	1	0	9	150				
MRPS5	64969	broad.mit.edu	37	2	95775710	95775710	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:95775710A>T	ENST00000272418.2	-	4	562	c.354T>A	c.(352-354)acT>acA	p.T118T		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	118					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCTTCTTTTTAGTTCTTTTGC	0.393																																						ENST00000272418.2																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(352-354)acT>acA		mitochondrial ribosomal protein S5							83.0	86.0	85.0					2																	95775710		2203	4300	6503	SO:0001819	synonymous_variant	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95775710A>T	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.354T>A	2.37:g.95775710A>T			Somatic					p.T118T	NM_031902.3	NP_114108.1	WXS	Illumina GAIIx	Phase_I	P82675	RT05_HUMAN			4	562	-			118					Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Silent	SNP	ENST00000272418.2	37	c.354T>A	CCDS2010.1																																																																																				0.393	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		8	174	0	0	0	1	0	8	174				
CYP11A1	1583	broad.mit.edu	37	15	74630355	74630355	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:74630355G>A	ENST00000268053.6	-	9	1678	c.1524C>T	c.(1522-1524)tcC>tcT	p.S508S	CYP11A1_ENST00000419019.2_Silent_p.S350S|CYP11A1_ENST00000358632.4_Silent_p.S350S	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	508					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	AGAAGGTGAAGGAGATGGGCT	0.557																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000358632.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1048-1050)tcC>tcT		cytochrome P450, family 11, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						157.0	132.0	141.0					15																	74630355		2198	4297	6495	SO:0001819	synonymous_variant	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74630355G>A	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.1524C>T	15.37:g.74630355G>A			Somatic				CYP11A1_ENST00000268053.6_Silent_p.S508S|CYP11A1_ENST00000419019.2_Silent_p.S350S	p.S350S	NM_001099773.1	NP_001093243.1	WXS	Illumina GAIIx	Phase_I	P05108	CP11A_HUMAN			9	1745	-			508					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Silent	SNP	ENST00000268053.6	37	c.1050C>T	CCDS32291.1																																																																																				0.557	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			4	341	0	0	0	1	0	4	341				
ALG1	56052	broad.mit.edu	37	16	5129756	5129756	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:5129756A>G	ENST00000262374.5	+	9	940	c.909A>G	c.(907-909)gaA>gaG	p.E303E	ALG1_ENST00000588623.1_Silent_p.E192E|ALG1_ENST00000544428.1_Silent_p.E192E	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	303					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)	p.E303E(3)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				CAGAGTTTGAACAACTGACTC	0.443																																						ENST00000588623.1																			3	Substitution - coding silent(3)	p.E303E(3)	lung(2)|urinary_tract(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(574-576)gaA>gaG		ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase							89.0	85.0	87.0					16																	5129756		2197	4300	6497	SO:0001819	synonymous_variant	56052				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	g.chr16:5129756A>G	AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.909A>G	16.37:g.5129756A>G			Somatic				ALG1_ENST00000262374.5_Silent_p.E303E|ALG1_ENST00000544428.1_Silent_p.E192E	p.E192E			WXS	Illumina GAIIx	Phase_I	Q9BT22	ALG1_HUMAN			10	1676	+		Ovarian(90;0.0164)	303					B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Silent	SNP	ENST00000262374.5	37	c.576A>G	CCDS10528.1																																																																																				0.443	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109		5	157	0	0	0	1	0	5	157				
CSMD3	114788	broad.mit.edu	37	8	113246594	113246594	+	Splice_Site	SNP	A	A	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:113246594A>C	ENST00000297405.5	-	68	10984	c.10740T>G	c.(10738-10740)ttT>ttG	p.F3580L	CSMD3_ENST00000343508.3_Splice_Site_p.F3540L|CSMD3_ENST00000455883.2_Splice_Site_p.F3411L|CSMD3_ENST00000352409.3_Splice_Site_p.F3510L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3580						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						CTATACTTACAAAGCCATCCA	0.343										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.e68+1		CUB and Sushi multiple domains 3							116.0	115.0	116.0					8																	113246594		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113246594A>C	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.10740+1T>G	8.37:g.113246594A>C		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_ENST00000352409.3_Splice_Site_p.F3510_splice|CSMD3_ENST00000343508.3_Splice_Site_p.F3540_splice|CSMD3_ENST00000455883.2_Splice_Site_p.F3411_splice	p.F3580_splice	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			68	10984	-			3580					Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.10740_splice	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.752970	0.69648	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.27256	1.98;1.98;2.03;1.68;2.02	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000001	T	0.41696	0.1170	L	0.51422	1.61	0.58432	D	0.999995	D;D;B	0.63046	0.992;0.987;0.411	P;P;B	0.61275	0.886;0.772;0.176	T	0.12811	-1.0533	9	.	.	.	.	15.1664	0.72828	1.0:0.0:0.0:0.0	.	3411;3580;3540	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	3540;3580;2850;3411;3510	ENSP00000345799:F3540L;ENSP00000297405:F3580L;ENSP00000341558:F2850L;ENSP00000412263:F3411L;ENSP00000343124:F3510L	.	F	-	3	2	CSMD3	113315770	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	6.877000	0.75562	2.173000	0.68751	0.533000	0.62120	TTT		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	82	132	0	0	0	1	0	82	132				
GOLT1A	127845	broad.mit.edu	37	1	204170871	204170871	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:204170871C>T	ENST00000308302.3	-	3	371	c.186G>A	c.(184-186)cgG>cgA	p.R62R	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A									p.R62R(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGAGTTTGTGCCGTTGGAAGA	0.567																																						ENST00000308302.3																			1	Substitution - coding silent(1)	p.R62R(1)	urinary_tract(1)	kidney(1)|lung(2)|urinary_tract(1)	4						c.(184-186)cgG>cgA		golgi transport 1A							140.0	147.0	145.0					1																	204170871		2203	4300	6503	SO:0001819	synonymous_variant	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170871C>T	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"""golgi transport 1 homolog A (S. cerevisiae)"""			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.186G>A	1.37:g.204170871C>T			Somatic					p.R62R	NM_198447.1	NP_940849.1	WXS	Illumina GAIIx	Phase_I	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	371	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		62						Silent	SNP	ENST00000308302.3	37	c.186G>A	CCDS1443.1																																																																																				0.567	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		5	538	0	0	0	1	0	5	538				
IL17RB	55540	broad.mit.edu	37	3	53898830	53898830	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:53898830T>A	ENST00000288167.3	+	11	1013	c.1004T>A	c.(1003-1005)cTt>cAt	p.L335H		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	335	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		ATTAAGGTTCTTGTGGTTTAC	0.398																																						ENST00000288167.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13						c.(1003-1005)cTt>cAt		interleukin 17 receptor B							145.0	140.0	142.0					3																	53898830		2203	4300	6503	SO:0001583	missense	55540				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr3:53898830T>A	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.1004T>A	3.37:g.53898830T>A	ENSP00000288167:p.Leu335His		Somatic					p.L335H	NM_018725.3	NP_061195.2	WXS	Illumina GAIIx	Phase_I	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	11	1013	+			335			SEFIR.		Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	ENST00000288167.3	37	c.1004T>A	CCDS2874.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174050	0.78452	.	.	ENSG00000056736	ENST00000288167;ENST00000494338	T;T	0.38722	1.12;1.12	5.84	5.84	0.93424	SEFIR (1);	0.194871	0.33217	N	0.005157	T	0.62380	0.2423	M	0.68317	2.08	0.41071	D	0.985459	D	0.89917	1.0	D	0.77557	0.99	T	0.66048	-0.6020	10	0.72032	D	0.01	-8.8097	13.7374	0.62827	0.0:0.0:0.0:1.0	.	335	Q9NRM6	I17RB_HUMAN	H	335;319	ENSP00000288167:L335H;ENSP00000418638:L319H	ENSP00000288167:L335H	L	+	2	0	IL17RB	53873870	0.998000	0.40836	0.976000	0.42696	0.964000	0.63967	5.163000	0.64948	2.230000	0.72887	0.528000	0.53228	CTT		0.398	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		105	292	0	0	0	1	0	105	292				
TAF4B	6875	broad.mit.edu	37	18	23937652	23937652	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr18:23937652A>T	ENST00000269142.5	+	14	3314		c.e14-1		TAF4B_ENST00000578121.1_Splice_Site	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa						gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TCCGTCTTCTAGTTACAGCAA	0.383																																						ENST00000269142.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29						c.e14-1		TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa							87.0	75.0	79.0					18																	23937652		1841	4088	5929	SO:0001630	splice_region_variant	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23937652A>T	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.2317-1A>T	18.37:g.23937652A>T			Somatic				TAF4B_ENST00000578121.1_Splice_Site		NM_005640.1	NP_005631.1	WXS	Illumina GAIIx	Phase_I	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		14	3314	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)							Q29YA4|Q29YA5	Splice_Site	SNP	ENST00000269142.5	37		CCDS42421.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.020462	0.54576	.	.	ENSG00000141384	ENST00000418698;ENST00000269142	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4681	0.61268	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TAF4B	22191650	1.000000	0.71417	0.999000	0.59377	0.677000	0.39632	4.889000	0.63171	1.905000	0.55150	0.523000	0.50628	.		0.383	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640	Intron	4	81	0	0	0	1	0	4	81				
OR1I1	126370	broad.mit.edu	37	19	15198108	15198108	+	Missense_Mutation	SNP	G	G	A	rs146090785	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:15198108G>A	ENST00000209540.2	+	1	318	c.232G>A	c.(232-234)Gtc>Atc	p.V78I		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CTCCACCACCGTCCCCAAGAT	0.542													G|||	2	0.000399361	0.0015	0.0	5008	,	,		22262	0.0		0.0	False		,,,				2504	0.0					ENST00000209540.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						c.(232-234)Gtc>Atc		olfactory receptor, family 1, subfamily I, member 1		G	ILE/VAL	8,4398	14.3+/-33.2	0,8,2195	225.0	151.0	176.0		232	2.6	1.0	19	dbSNP_134	176	0,8600		0,0,4300	yes	missense	OR1I1	NM_001004713.1	29	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	benign	78/356	15198108	8,12998	2203	4300	6503	SO:0001583	missense	126370				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15198108G>A	AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"""GPCR / Class A : Olfactory receptors"""	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.232G>A	19.37:g.15198108G>A	ENSP00000209540:p.Val78Ile		Somatic					p.V78I	NM_001004713.1	NP_001004713.1	WXS	Illumina GAIIx	Phase_I	O60431	OR1I1_HUMAN			1	318	+			78					Q96R92	Missense_Mutation	SNP	ENST00000209540.2	37	c.232G>A	CCDS32937.1	.	.	.	.	.	.	.	.	.	.	g	8.568	0.879384	0.17467	0.001816	0.0	ENSG00000094661	ENST00000209540	T	0.02787	4.16	4.84	2.61	0.31194	GPCR, rhodopsin-like superfamily (1);	0.385935	0.15654	U	0.251234	T	0.02083	0.0065	L	0.28400	0.85	0.25990	N	0.982257	B	0.22800	0.075	B	0.23150	0.044	T	0.46020	-0.9221	10	0.15499	T	0.54	.	4.0416	0.09753	0.2181:0.1973:0.5846:0.0	.	78	O60431	OR1I1_HUMAN	I	78	ENSP00000209540:V78I	ENSP00000209540:V78I	V	+	1	0	OR1I1	15059108	0.000000	0.05858	0.980000	0.43619	0.659000	0.38960	-1.063000	0.03465	1.273000	0.44346	-0.258000	0.10820	GTC		0.542	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465665.1			52	109	0	0	0	1	0	52	109				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	284802							g.chr20:29628283G>C			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.285G>C	20.37:g.29628283G>C			Somatic				FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G	p.G95G			WXS	Illumina GAIIx	Phase_I					6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	279	0	0	0	1	0	6	279				
TRIM67	440730	broad.mit.edu	37	1	231298765	231298765	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:231298765C>T	ENST00000366653.5	+	1	50	c.50C>T	c.(49-51)cCt>cTt	p.P17L	TRIM67_ENST00000366652.2_Missense_Mutation_p.P17L|TRIM67_ENST00000444294.3_Missense_Mutation_p.P17L|TRIM67_ENST00000449018.3_Missense_Mutation_p.P17L			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	17					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TTTCGGGAGCCTATCATCCTG	0.672																																						ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(49-51)cCt>cTt		tripartite motif containing 67							37.0	41.0	39.0					1																	231298765		2075	4217	6292	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231298765C>T	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.50C>T	1.37:g.231298765C>T	ENSP00000355613:p.Pro17Leu		Somatic				TRIM67_ENST00000449018.3_Missense_Mutation_p.P17L|TRIM67_ENST00000366653.5_Missense_Mutation_p.P17L|TRIM67_ENST00000366652.2_Missense_Mutation_p.P17L	p.P17L	NM_001004342.3	NP_001004342.3	WXS	Illumina GAIIx	Phase_I	Q6ZTA4	TRI67_HUMAN			1	908	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	17					Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.50C>T	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935581	0.92458	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.05	5.05	0.67936	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, C3HC4 RING-type (1);	0.063957	0.64402	D	0.000006	D	0.94909	0.8354	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95878	0.8896	10	0.87932	D	0	.	17.5247	0.87796	0.0:1.0:0.0:0.0	.	17	Q6ZTA4	TRI67_HUMAN	L	17	ENSP00000412124:P17L;ENSP00000355612:P17L;ENSP00000400163:P17L;ENSP00000355613:P17L	ENSP00000355612:P17L	P	+	2	0	TRIM67	229365388	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.217000	0.77982	2.499000	0.84300	0.462000	0.41574	CCT		0.672	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		5	14	0	0	0	1	0	5	14				
EPS8	2059	broad.mit.edu	37	12	15822749	15822749	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:15822749G>A	ENST00000281172.5	-	5	651	c.215C>T	c.(214-216)aCc>aTc	p.T72I	EPS8_ENST00000543612.1_Missense_Mutation_p.T72I|RNU6-251P_ENST00000363235.1_RNA|EPS8_ENST00000543523.1_Missense_Mutation_p.T72I	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	72	PH; first part.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CAGGACAAAGGTAGTCAAGTG	0.348																																						ENST00000281172.5																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(214-216)aCc>aTc		epidermal growth factor receptor pathway substrate 8							83.0	69.0	74.0					12																	15822749		2203	4300	6503	SO:0001583	missense	2059				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15822749G>A	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.215C>T	12.37:g.15822749G>A	ENSP00000281172:p.Thr72Ile		Somatic				EPS8_ENST00000543612.1_Missense_Mutation_p.T72I|EPS8_ENST00000543523.1_Missense_Mutation_p.T72I	p.T72I	NM_004447.5	NP_004438.3	WXS	Illumina GAIIx	Phase_I	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	5	651	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	72			PH; first part.		A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	c.215C>T	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564205	0.65651	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000543223;ENST00000546311;ENST00000535752	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	4.84	4.84	0.62591	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	M	0.86864	2.845	0.80722	D	1	D	0.54397	0.966	D	0.64687	0.928	T	0.76206	-0.3044	10	0.87932	D	0	-16.115	18.3073	0.90187	0.0:0.0:1.0:0.0	.	72	Q12929	EPS8_HUMAN	I	72	ENSP00000441867:T72I;ENSP00000281172:T72I;ENSP00000442388:T72I;ENSP00000445235:T72I;ENSP00000440591:T72I	ENSP00000281172:T72I	T	-	2	0	EPS8	15714016	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	9.807000	0.99171	2.383000	0.81215	0.650000	0.86243	ACC		0.348	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			14	57	0	0	0	1	0	14	57				
AS3MT	57412	broad.mit.edu	37	10	104638240	104638240	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:104638240C>A	ENST00000369880.3	+	8	792	c.715C>A	c.(715-717)Caa>Aaa	p.Q239K	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase	239					arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		CATTACAATTCAAAACAAGGA	0.408																																						ENST00000369880.3																			0				large_intestine(1)|lung(6)	7						c.(715-717)Caa>Aaa		arsenic (+3 oxidation state) methyltransferase							158.0	148.0	151.0					10																	104638240		1866	4129	5995	SO:0001583	missense	57412				arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity	g.chr10:104638240C>A	AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"""arsenic (+3 oxidation state) methyltransferase"""			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.715C>A	10.37:g.104638240C>A	ENSP00000358896:p.Gln239Lys		Somatic				C10ORF32_ENST00000299353.6_3'UTR	p.Q239K	NM_020682.3	NP_065733.2	WXS	Illumina GAIIx	Phase_I	Q9HBK9	AS3MT_HUMAN		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)	8	792	+		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)	239					A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Missense_Mutation	SNP	ENST00000369880.3	37	c.715C>A	CCDS41567.1	.	.	.	.	.	.	.	.	.	.	C	8.216	0.801506	0.16397	.	.	ENSG00000214435	ENST00000369880	T	0.21031	2.03	5.48	3.45	0.39498	.	0.554717	0.18810	N	0.130557	T	0.11965	0.0291	N	0.17474	0.49	0.23401	N	0.997756	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.13407	0.009;0.006;0.006	T	0.12344	-1.0551	9	0.06757	T	0.87	-0.8161	13.86	0.63554	0.0:0.6119:0.3881:0.0	.	239;239;239	Q0VDK3;Q9HBK9;Q0VDK4	.;AS3MT_HUMAN;.	K	239	ENSP00000358896:Q239K	ENSP00000358896:Q239K	Q	+	1	0	AS3MT	104628230	0.038000	0.19896	0.986000	0.45419	0.913000	0.54294	0.983000	0.29552	1.267000	0.44247	0.561000	0.74099	CAA		0.408	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050107.1	NM_020682		6	291	1	0	1.6384e-10	1	1.72578e-10	6	291				
PHF2	5253	broad.mit.edu	37	9	96415638	96415638	+	Silent	SNP	C	C	T	rs539206245	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:96415638C>T	ENST00000359246.4	+	6	1147	c.780C>T	c.(778-780)caC>caT	p.H260H	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	260	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCTGGTACCACGTGCTCAAGG	0.602													C|||	2	0.000399361	0.0	0.0	5008	,	,		19530	0.0		0.0	False		,,,				2504	0.002					ENST00000359246.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(778-780)caC>caT		PHD finger protein 2							98.0	79.0	85.0					9																	96415638		2203	4300	6503	SO:0001819	synonymous_variant	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96415638C>T	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.780C>T	9.37:g.96415638C>T			Somatic				PHF2_ENST00000375376.4_Intron	p.H260H	NM_005392.3	NP_005383.3	WXS	Illumina GAIIx	Phase_I	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	6	1147	+		Myeloproliferative disorder(762;0.0255)	260			JmjC.		Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	37	c.780C>T	CCDS35069.1																																																																																				0.602	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		17	54	0	0	0	1	0	17	54				
RCC1	1104	broad.mit.edu	37	1	28858360	28858360	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:28858360T>A	ENST00000373833.6	+	6	404	c.119T>A	c.(118-120)cTa>cAa	p.L40Q	RCC1_ENST00000373831.3_Missense_Mutation_p.L71Q|RCC1_ENST00000398958.2_Missense_Mutation_p.L40Q|RCC1_ENST00000373832.1_Missense_Mutation_p.L40Q			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	40					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GTGCTGACACTAGGCCAGGGC	0.592																																						ENST00000373833.6																			0				breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14						c.(118-120)cTa>cAa		regulator of chromosome condensation 1							56.0	57.0	57.0					1																	28858360		2203	4300	6503	SO:0001583	missense	1104				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	g.chr1:28858360T>A	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.119T>A	1.37:g.28858360T>A	ENSP00000362939:p.Leu40Gln		Somatic				RCC1_ENST00000373831.3_Missense_Mutation_p.L71Q|RCC1_ENST00000373832.1_Missense_Mutation_p.L40Q|RCC1_ENST00000398958.2_Missense_Mutation_p.L40Q	p.L40Q			WXS	Illumina GAIIx	Phase_I	P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	6	404	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	40					Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	c.119T>A	CCDS323.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683774	0.88639	.	.	ENSG00000180198	ENST00000398958;ENST00000427469;ENST00000434290;ENST00000373833;ENST00000419074;ENST00000373832;ENST00000373831;ENST00000411533;ENST00000430407	D;D;D;D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	5.86	5.86	0.93980	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.92648	0.7664	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.984;0.997;0.973	D	0.93410	0.6768	10	0.66056	D	0.02	-10.2256	15.1337	0.72545	0.0:0.0:0.0:1.0	.	71;57;40	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	Q	40;40;48;40;40;40;71;57;40	ENSP00000381931:L40Q;ENSP00000402740:L40Q;ENSP00000405258:L48Q;ENSP00000362939:L40Q;ENSP00000402260:L40Q;ENSP00000362938:L40Q;ENSP00000362937:L71Q;ENSP00000413644:L57Q;ENSP00000394650:L40Q	ENSP00000362937:L71Q	L	+	2	0	RCC1	28730947	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.019000	0.88732	2.246000	0.74042	0.529000	0.55759	CTA		0.592	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269		6	33	0	0	0	1	0	6	33				
MED12	9968	broad.mit.edu	37	X	70348962	70348962	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:70348962A>T	ENST00000374080.3	+	25	3507		c.e25-1		MED12_ENST00000374102.1_Splice_Site|MED12_ENST00000333646.6_Splice_Site			Q93074	MED12_HUMAN	mediator complex subunit 12						androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TCTTCCTTTTAGCTTGTAGTG	0.512			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.e25-1		mediator complex subunit 12							54.0	54.0	54.0					X																	70348962		1964	4138	6102	SO:0001630	splice_region_variant	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70348962A>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3476-1A>T	X.37:g.70348962A>T			Somatic	OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_ENST00000374102.1_Splice_Site|MED12_ENST00000374080.3_Splice_Site		NM_005120.2	NP_005111.2	WXS	Illumina GAIIx	Phase_I	Q93074	MED12_HUMAN			25	3674	+	Renal(35;0.156)							O15410|O75557|Q9UHV6|Q9UND7	Splice_Site	SNP	ENST00000374080.3	37		CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	16.92	3.254442	0.59212	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0799	0.64914	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MED12	70265687	1.000000	0.71417	0.989000	0.46669	0.967000	0.64934	8.500000	0.90498	1.968000	0.57251	0.430000	0.28490	.		0.512	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	Intron	5	129	0	0	0	1	0	5	129				
MFAP5	8076	broad.mit.edu	37	12	8802129	8802129	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:8802129C>T	ENST00000359478.2	-	9	564	c.377G>A	c.(376-378)cGt>cAt	p.R126H	MFAP5_ENST00000396549.2_Missense_Mutation_p.R116H|MFAP5_ENST00000433590.2_Missense_Mutation_p.R101H|MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000538107.1_5'Flank|MFAP5_ENST00000543369.1_Missense_Mutation_p.R104H|MFAP5_ENST00000540087.1_Missense_Mutation_p.R116H	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	126					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					ACAGACAAGACGAGAGCAGAT	0.443																																						ENST00000359478.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13						c.(376-378)cGt>cAt		microfibrillar associated protein 5							296.0	227.0	250.0					12																	8802129		2203	4300	6503	SO:0001583	missense	8076					microfibril	extracellular matrix structural constituent	g.chr12:8802129C>T	AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.377G>A	12.37:g.8802129C>T	ENSP00000352455:p.Arg126His		Somatic				MFAP5_ENST00000540087.1_Missense_Mutation_p.R116H|MFAP5_ENST00000433590.2_Missense_Mutation_p.R101H|MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000396549.2_Missense_Mutation_p.R116H|MFAP5_ENST00000543369.1_Missense_Mutation_p.R104H	p.R126H	NM_003480.2	NP_003471.1	WXS	Illumina GAIIx	Phase_I	Q13361	MFAP5_HUMAN			9	564	-	Lung SC(5;0.184)		126					B0AZL6|D3DUV1|Q7Z490	Missense_Mutation	SNP	ENST00000359478.2	37	c.377G>A	CCDS8595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.712297|4.712297	0.89112|0.89112	.|.	.|.	ENSG00000197614|ENSG00000197614	ENST00000543467;ENST00000359478;ENST00000433590;ENST00000396549;ENST00000543369;ENST00000540087|ENST00000535411	.|.	.|.	.|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72542|0.72542	0.3473|0.3473	M|M	0.72894|0.72894	2.215|2.215	0.39907|0.39907	D|D	0.973972|0.973972	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.999|.	T|T	0.73777|0.73777	-0.3876|-0.3876	9|5	0.87932|.	D|.	0|.	-17.56|-17.56	13.7701|13.7701	0.63019|0.63019	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	101;126;116|.	B3KW70;Q13361;Q7Z490|.	.;MFAP5_HUMAN;.|.	H|I	32;126;101;116;104;116|116	.|.	ENSP00000352455:R126H|.	R|V	-|-	2|1	0|0	MFAP5|MFAP5	8693396|8693396	0.997000|0.997000	0.39634|0.39634	0.986000|0.986000	0.45419|0.45419	0.990000|0.990000	0.78478|0.78478	3.794000|3.794000	0.55492|0.55492	2.614000|2.614000	0.88457|0.88457	0.563000|0.563000	0.77884|0.77884	CGT|GTC		0.443	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2	NM_003480		88	397	0	0	0	1	0	88	397				
POLRMT	5442	broad.mit.edu	37	19	630069	630069	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:630069T>C	ENST00000588649.2	-	3	377	c.293A>G	c.(292-294)gAt>gGt	p.D98G		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	98					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GAGGCTACCATCTCCACTGCC	0.657																																						ENST00000588649.2																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20						c.(292-294)gAt>gGt		polymerase (RNA) mitochondrial (DNA directed)							49.0	53.0	51.0					19																	630069		2203	4300	6503	SO:0001583	missense	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:630069T>C		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.293A>G	19.37:g.630069T>C	ENSP00000465759:p.Asp98Gly		Somatic					p.D98G	NM_005035.3	NP_005026.3	WXS	Illumina GAIIx	Phase_I	O00411	RPOM_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)	3	377	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	98					O60370	Missense_Mutation	SNP	ENST00000588649.2	37	c.293A>G	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	T	6.133	0.392856	0.11638	.	.	ENSG00000099821	ENST00000215591	T	0.43294	0.95	3.06	-2.16	0.07080	.	1.283810	0.05584	N	0.573508	T	0.26122	0.0637	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34079	-0.9843	10	0.62326	D	0.03	.	5.4359	0.16480	0.0:0.2838:0.2162:0.5	.	98	O00411	RPOM_HUMAN	G	98	ENSP00000215591:D98G	ENSP00000215591:D98G	D	-	2	0	POLRMT	581069	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.240000	0.08952	-0.014000	0.14175	-0.366000	0.07423	GAT		0.657	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		4	44	0	0	0	1	0	4	44				
PTPRZ1	5803	broad.mit.edu	37	7	121668608	121668608	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:121668608A>T	ENST00000393386.2	+	14	5402	c.4991A>T	c.(4990-4992)aAa>aTa	p.K1664I	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.K804I	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1664					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATTTCCAGGAAATGCTTCCAG	0.353																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(4990-4992)aAa>aTa		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							142.0	124.0	130.0					7																	121668608		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121668608A>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4991A>T	7.37:g.121668608A>T	ENSP00000377047:p.Lys1664Ile		Somatic				PTPRZ1_ENST00000449182.1_Missense_Mutation_p.K804I	p.K1664I	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	WXS	Illumina GAIIx	Phase_I	P23471	PTPRZ_HUMAN			14	5402	+			1664					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.4991A>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.560131	0.65538	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.78246	0.65;-1.16	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	D	0.84009	0.5378	L	0.43152	1.355	0.58432	D	0.999992	D;P;D	0.89917	1.0;0.864;0.992	D;P;P	0.71656	0.974;0.598;0.855	D	0.85668	0.1293	10	0.87932	D	0	.	16.1547	0.81649	1.0:0.0:0.0:0.0	.	803;804;1664	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	I	1664;804	ENSP00000377047:K1664I;ENSP00000410000:K804I	ENSP00000377047:K1664I	K	+	2	0	PTPRZ1	121455844	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	4.199000	0.58426	2.221000	0.72209	0.528000	0.53228	AAA		0.353	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		44	147	0	0	0	1	0	44	147				
RIMBP3	85376	broad.mit.edu	37	22	20458407	20458407	+	Silent	SNP	C	C	T	rs535277568		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:20458407C>T	ENST00000426804.1	-	1	3379	c.2895G>A	c.(2893-2895)acG>acA	p.T965T	RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	965										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GGCAGGCTTCCGTCTTGGTAT	0.607													c|||	1	0.000199681	0.0	0.0	5008	,	,		24804	0.0		0.0	False		,,,				2504	0.001					ENST00000426804.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(2893-2895)acG>acA		RIMS binding protein 3							1.0	1.0	1.0					22																	20458407		664	1803	2467	SO:0001819	synonymous_variant	85376							g.chr22:20458407C>T	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.2895G>A	22.37:g.20458407C>T			Somatic					p.T965T	NM_015672.1	NP_056487.1	WXS	Illumina GAIIx	Phase_I			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	3379	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Silent	SNP	ENST00000426804.1	37	c.2895G>A	CCDS46665.1																																																																																				0.607	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		11	59	0	0	0	1	0	11	59				
MYO1D	4642	broad.mit.edu	37	17	30986144	30986144	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:30986144C>T	ENST00000318217.5	-	17	2638	c.2334G>A	c.(2332-2334)acG>acA	p.T778T	RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Silent_p.T778T|MYO1D_ENST00000394649.4_Silent_p.T690T	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	778					early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TATTGAAAATCGTCTGCAGGG	0.498											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2332-2334)acG>acA		myosin ID							98.0	84.0	89.0					17																	30986144		2203	4300	6503	SO:0001819	synonymous_variant	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:30986144C>T	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2334G>A	17.37:g.30986144C>T			Somatic	OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821	RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Silent_p.T778T|MYO1D_ENST00000394649.4_Silent_p.T690T	p.T778T	NM_015194.1	NP_056009.1	WXS	Illumina GAIIx	Phase_I	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		17	2638	-			778					A6H8V3|Q8NHP9	Silent	SNP	ENST00000318217.5	37	c.2334G>A	CCDS32615.1																																																																																				0.498	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			44	218	0	0	0	1	0	44	218				
UGT1A6	54578	broad.mit.edu	37	2	234602487	234602487	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:234602487T>A	ENST00000305139.6	+	1	976	c.837T>A	c.(835-837)tgT>tgA	p.C279*	UGT1A1_ENST00000373450.4_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_3'UTR|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000373424.1_Nonsense_Mutation_p.C12*|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Nonsense_Mutation_p.C12*	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	279					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GTATCAACTGTAAGAAGAGGA	0.448																																						ENST00000305139.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22						c.(835-837)tgT>tgA									361.0	381.0	374.0					2																	234602487		2203	4300	6503	SO:0001587	stop_gained	54578							g.chr2:234602487T>A	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.837T>A	2.37:g.234602487T>A	ENSP00000303174:p.Cys279*		Somatic				UGT1A6_ENST00000406651.1_Nonsense_Mutation_p.C12*|UGT1A6_ENST00000373424.1_Nonsense_Mutation_p.C12*|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_3'UTR|AC114812.8_ENST00000439336.1_RNA	p.C279*	NM_001072.3	NP_001063.2	WXS	Illumina GAIIx	Phase_I				Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	1	976	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)						A6NKK6|B8K289|Q96TE7	Nonsense_Mutation	SNP	ENST00000305139.6	37	c.837T>A	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646989	0.67358	.	.	ENSG00000167165	ENST00000373424;ENST00000305139;ENST00000406651	.	.	.	5.11	0.977	0.19733	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0453	0.36343	0.0:0.4821:0.0:0.5179	.	.	.	.	X	12;279;12	.	ENSP00000303174:C279X	C	+	3	2	UGT1A6	234267226	0.014000	0.17966	0.255000	0.24374	0.020000	0.10135	0.013000	0.13310	-0.015000	0.14150	-0.242000	0.12053	TGT		0.448	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		10	1852	0	0	0	1	0	10	1852				
GPR137C	283554	broad.mit.edu	37	14	53101774	53101774	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:53101774A>T	ENST00000321662.6	+	7	1231	c.1231A>T	c.(1231-1233)Act>Tct	p.T411S		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	411						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					TTTGCTCTTTACTTGTAGTAA	0.418																																						ENST00000321662.6																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8						c.(1231-1233)Act>Tct		G protein-coupled receptor 137C							126.0	125.0	125.0					14																	53101774		1953	4145	6098	SO:0001583	missense	283554					integral to membrane		g.chr14:53101774A>T	BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.1231A>T	14.37:g.53101774A>T	ENSP00000315106:p.Thr411Ser		Somatic					p.T411S	NM_001099652.1	NP_001093122.1	WXS	Illumina GAIIx	Phase_I	Q8N3F9	G137C_HUMAN			7	1231	+	Breast(41;0.0716)		411					Q86SM2	Missense_Mutation	SNP	ENST00000321662.6	37	c.1231A>T	CCDS45106.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.139|8.139	0.784899|0.784899	0.16189|0.16189	.|.	.|.	ENSG00000180998|ENSG00000180998	ENST00000321662|ENST00000542169	T|.	0.40476|.	1.03|.	5.82|5.82	3.33|3.33	0.38152|0.38152	.|.	0.207947|.	0.50627|.	D|.	0.000103|.	T|T	0.19087|0.19087	0.0458|0.0458	N|N	0.02539|0.02539	-0.55|-0.55	0.40691|0.40691	D|D	0.982395|0.982395	B;B|.	0.20052|.	0.017;0.041|.	B;B|.	0.18561|.	0.015;0.022|.	T|T	0.09997|0.09997	-1.0649|-1.0649	10|5	0.09590|.	T|.	0.72|.	-13.4472|-13.4472	4.0477|4.0477	0.09781|0.09781	0.6904:0.0:0.1258:0.1837|0.6904:0.0:0.1258:0.1837	.|.	411;240|.	Q8N3F9;B3KW22|.	G137C_HUMAN;.|.	S|F	411|380	ENSP00000315106:T411S|.	ENSP00000315106:T411S|.	T|Y	+|+	1|2	0|0	GPR137C|GPR137C	52171524|52171524	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	2.176000|2.176000	0.42500|0.42500	2.218000|2.218000	0.71995|0.71995	0.482000|0.482000	0.46254|0.46254	ACT|TAC		0.418	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411685.1	XM_290615		5	123	0	0	0	1	0	5	123				
STRN4	29888	broad.mit.edu	37	19	47234001	47234001	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:47234001C>A	ENST00000263280.6	-	6	916	c.867G>T	c.(865-867)aaG>aaT	p.K289N	CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000594357.2_5'Flank|STRN4_ENST00000539396.1_Missense_Mutation_p.K170N|STRN4_ENST00000391910.3_Missense_Mutation_p.K289N	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	289						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TCACACGCTGCTTCTTGTGCT	0.637																																						ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(865-867)aaG>aaT		striatin, calmodulin binding protein 4							267.0	164.0	199.0					19																	47234001		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47234001C>A	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.867G>T	19.37:g.47234001C>A	ENSP00000263280:p.Lys289Asn		Somatic				CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Missense_Mutation_p.K170N|STRN4_ENST00000263280.6_Missense_Mutation_p.K289N	p.K289N			WXS	Illumina GAIIx	Phase_I	Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	6	1317	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	289					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.867G>T	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318204	0.81469	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396;ENST00000435164	T;T;T	0.67345	-0.25;-0.26;-0.13	5.0	2.9	0.33743	.	0.000000	0.64402	D	0.000001	T	0.74344	0.3704	M	0.62723	1.935	0.45930	D	0.998767	B;D	0.71674	0.087;0.998	B;D	0.76071	0.091;0.987	T	0.69665	-0.5084	10	0.27082	T	0.32	-29.8727	8.4177	0.32681	0.0:0.8186:0.0:0.1814	.	289;289	F8VYA6;Q9NRL3	.;STRN4_HUMAN	N	289;289;170;170	ENSP00000375777:K289N;ENSP00000263280:K289N;ENSP00000440901:K170N	ENSP00000263280:K289N	K	-	3	2	STRN4	51925841	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.952000	0.40343	0.704000	0.31869	0.561000	0.74099	AAG		0.637	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			5	354	1	0	0.014758	1	0.0150436	5	354				
IGKV2-24	28923	broad.mit.edu	37	2	89475811	89475811	+	RNA	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:89475811G>A	ENST00000484817.1	-	0	390									immunoglobulin kappa variable 2-24																		ACCACTGTGTGAGGAAATTGT	0.507																																						ENST00000484817.1																			0																				98.0	103.0	101.0					2																	89475811		1889	4111	6000			28923							g.chr2:89475811G>A	X12684		2p11.2	2012-02-08			ENSG00000241294	ENSG00000241294		"""Immunoglobulins / IGK locus"""	5781	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151655		2.37:g.89475811G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	390	-									RNA	SNP	ENST00000484817.1	37																																																																																						0.507	IGKV2-24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323404.1	NG_000834		26	192	0	0	0	1	0	26	192				
GABPB2	126626	broad.mit.edu	37	1	151089911	151089911	+	Silent	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:151089911T>A	ENST00000368918.3	+	8	1297	c.966T>A	c.(964-966)atT>atA	p.I322I	GABPB2_ENST00000368916.1_Silent_p.I284I|GABPB2_ENST00000467551.1_Intron|GABPB2_ENST00000368917.1_Silent_p.I284I	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	322					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AGACTGTAATTAAAGAGGAAG	0.398																																						ENST00000368918.3																			0				breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15						c.(964-966)atT>atA		GA binding protein transcription factor, beta subunit 2							122.0	114.0	117.0					1																	151089911		2203	4300	6503	SO:0001819	synonymous_variant	126626				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding	g.chr1:151089911T>A		CCDS983.1	1q21.2	2013-01-10			ENSG00000143458	ENSG00000143458		"""Ankyrin repeat domain containing"""	28441	protein-coding gene	gene with protein product						7958862	Standard	NM_144618		Approved	MGC29891	uc001ewr.2	Q8TAK5	OTTHUMG00000012193	ENST00000368918.3:c.966T>A	1.37:g.151089911T>A			Somatic				GABPB2_ENST00000368916.1_Silent_p.I284I|GABPB2_ENST00000467551.1_Intron|GABPB2_ENST00000368917.1_Silent_p.I284I	p.I322I	NM_144618.2	NP_653219.1	WXS	Illumina GAIIx	Phase_I	Q8TAK5	GABP2_HUMAN		all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)	8	1297	+			322					B1AVJ8|D3DV14|Q8NAR5	Silent	SNP	ENST00000368918.3	37	c.966T>A	CCDS983.1																																																																																				0.398	GABPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033700.2	NM_144618		4	97	0	0	0	1	0	4	97				
OR5H2	79310	broad.mit.edu	37	3	98001737	98001737	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:98001737G>A	ENST00000355273.2	+	1	6	c.6G>A	c.(4-6)tcG>tcA	p.S2S	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CAGGGATGTCGAATGAGGACA	0.398																																						ENST00000355273.2																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(4-6)tcG>tcA		olfactory receptor, family 5, subfamily H, member 2							149.0	142.0	144.0					3																	98001737		2203	4300	6503	SO:0001819	synonymous_variant	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98001737G>A		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.6G>A	3.37:g.98001737G>A			Somatic				RP11-325B23.2_ENST00000508616.1_lincRNA	p.S2S	NM_001005482.1	NP_001005482.1	WXS	Illumina GAIIx	Phase_I	Q8NGV7	OR5H2_HUMAN			1	6	+			2					Q6IF87	Silent	SNP	ENST00000355273.2	37	c.6G>A	CCDS33801.1																																																																																				0.398	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			47	218	0	0	0	1	0	47	218				
SLCO1C1	53919	broad.mit.edu	37	12	20854280	20854280	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:20854280A>T	ENST00000266509.2	+	3	526	c.158A>T	c.(157-159)tAc>tTc	p.Y53F	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.Y53F|SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.Y53F|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.Y53F	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	53					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TCTTTTGTTTACTTTGCCAAA	0.418																																						ENST00000381552.1																			0				NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(157-159)tAc>tTc		solute carrier organic anion transporter family, member 1C1							294.0	222.0	247.0					12																	20854280		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20854280A>T	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.158A>T	12.37:g.20854280A>T	ENSP00000266509:p.Tyr53Phe		Somatic				SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.Y53F|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.Y53F|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.Y53F	p.Y53F			WXS	Illumina GAIIx	Phase_I	Q9NYB5	SO1C1_HUMAN			3	526	+	Esophageal squamous(101;0.149)		53					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.158A>T	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.996584	0.54147	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.24	5.24	0.73138	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.42223	0.1193	N	0.17345	0.48	0.53688	D	0.999971	B;B;B	0.15930	0.004;0.015;0.002	B;B;B	0.26969	0.047;0.075;0.047	T	0.29397	-1.0013	10	0.11794	T	0.64	.	15.3061	0.73992	1.0:0.0:0.0:0.0	.	53;53;53	B7Z3Q3;Q5JPA4;Q9NYB5	.;.;SO1C1_HUMAN	F	53	ENSP00000444149:Y53F;ENSP00000438665:Y53F;ENSP00000266509:Y53F;ENSP00000370964:Y53F	ENSP00000266509:Y53F	Y	+	2	0	SLCO1C1	20745547	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.925000	0.75829	2.203000	0.70933	0.533000	0.62120	TAC		0.418	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		4	87	0	0	0	1	0	4	87				
NYNRIN	57523	broad.mit.edu	37	14	24878537	24878537	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:24878537G>A	ENST00000382554.3	+	4	1855	c.1537G>A	c.(1537-1539)Gct>Act	p.A513T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	513					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGAGGGACCCGCTCCAGTGCT	0.572																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(1537-1539)Gct>Act		NYN domain and retroviral integrase containing							39.0	42.0	41.0					14																	24878537		1934	4128	6062	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24878537G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.1537G>A	14.37:g.24878537G>A	ENSP00000371994:p.Ala513Thr		Somatic					p.A513T	NM_025081.2	NP_079357.2	WXS	Illumina GAIIx	Phase_I	Q9P2P1	NYNRI_HUMAN			4	1855	+			513					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.1537G>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	g	7.747	0.702554	0.15172	.	.	ENSG00000205978	ENST00000382554	T	0.09817	2.94	4.63	-3.59	0.04583	.	.	.	.	.	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.44314	-0.9336	9	0.07990	T	0.79	.	2.4094	0.04420	0.2503:0.0823:0.4134:0.2539	.	513	Q9P2P1	NYNRI_HUMAN	T	513	ENSP00000371994:A513T	ENSP00000371994:A513T	A	+	1	0	NYNRIN	23948377	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.413000	0.07123	-0.640000	0.05495	-2.194000	0.00310	GCT		0.572	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			15	82	0	0	0	1	0	15	82				
LRIT1	26103	broad.mit.edu	37	10	85991773	85991773	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:85991773C>T	ENST00000372105.3	-	4	1803	c.1782G>A	c.(1780-1782)gaG>gaA	p.E594E		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	594						integral component of endoplasmic reticulum membrane (GO:0030176)		p.E594D(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCCTGTCAGCCTCGCTGACAC	0.562																																						ENST00000372105.3																			1	Substitution - Missense(1)	p.E594D(1)	lung(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						c.(1780-1782)gaG>gaA		leucine-rich repeat, immunoglobulin-like and transmembrane domains 1							84.0	67.0	73.0					10																	85991773		2203	4300	6503	SO:0001819	synonymous_variant	26103					integral to endoplasmic reticulum membrane		g.chr10:85991773C>T	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1782G>A	10.37:g.85991773C>T			Somatic					p.E594E	NM_015613.2	NP_056428.1	WXS	Illumina GAIIx	Phase_I	Q9P2V4	LRIT1_HUMAN			4	1803	-			594					Q0QD41|Q9Y4N7	Silent	SNP	ENST00000372105.3	37	c.1782G>A	CCDS7373.1																																																																																				0.562	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		6	43	0	0	0	1	0	6	43				
TTF1	7270	broad.mit.edu	37	9	135278059	135278059	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:135278059A>T	ENST00000334270.2	-	2	189	c.150T>A	c.(148-150)acT>acA	p.T50T		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	50	N-terminal region (NRD). {ECO:0000250}.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TTTTCCTCCTAGTTATTTGAG	0.378																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(148-150)acT>acA		transcription termination factor, RNA polymerase I							80.0	82.0	81.0					9																	135278059		2203	4300	6503	SO:0001819	synonymous_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135278059A>T	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.150T>A	9.37:g.135278059A>T			Somatic					p.T50T	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	WXS	Illumina GAIIx	Phase_I	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	189	-		Myeloproliferative disorder(178;0.204)	50			N-terminal region (NRD) (By similarity).		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	ENST00000334270.2	37	c.150T>A	CCDS6948.1																																																																																				0.378	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		4	101	0	0	0	1	0	4	101				
ALG1L	200810	broad.mit.edu	37	3	125647396	125647396	+	IGR	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:125647396T>C	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TGTTTCCCTATGAAGAGCACT	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	100125556							g.chr3:125647396T>C	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647396T>C			Somatic						NR_024251.1		WXS	Illumina GAIIx	Phase_I					0	541	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		9	424	0	0	0	1	0	9	424				
USH2A	7399	broad.mit.edu	37	1	215955404	215955404	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:215955404C>G	ENST00000307340.3	-	54	11106	c.10720G>C	c.(10720-10722)Ggc>Cgc	p.G3574R	USH2A_ENST00000366943.2_Missense_Mutation_p.G3574R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3574	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGGCACAGCCAGCAACCGTG	0.438										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(10720-10722)Ggc>Cgc		Usher syndrome 2A (autosomal recessive, mild)							96.0	96.0	96.0					1																	215955404		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215955404C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10720G>C	1.37:g.215955404C>G	ENSP00000305941:p.Gly3574Arg	HNSCC(13;0.011)	Somatic				USH2A_ENST00000307340.3_Missense_Mutation_p.G3574R	p.G3574R			WXS	Illumina GAIIx	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	54	11106	-			3574			Fibronectin type-III 20.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10720G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780264	0.70222	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53423	0.62;0.62	5.66	4.62	0.57501	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.148471	0.30820	N	0.008813	T	0.55609	0.1931	M	0.91510	3.215	0.54753	D	0.999983	P	0.42161	0.772	B	0.36922	0.236	T	0.66858	-0.5817	10	0.87932	D	0	.	12.57	0.56331	0.0:0.9026:0.0:0.0974	.	3574	O75445	USH2A_HUMAN	R	3574	ENSP00000305941:G3574R;ENSP00000355910:G3574R	ENSP00000305941:G3574R	G	-	1	0	USH2A	214022027	0.998000	0.40836	0.699000	0.30290	0.619000	0.37552	3.847000	0.55895	1.275000	0.44379	0.650000	0.86243	GGC		0.438	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		36	166	0	0	0	1	0	36	166				
FBXO7	25793	broad.mit.edu	37	22	32879882	32879882	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:32879882A>T	ENST00000266087.7	+	3	744		c.e3-1		FBXO7_ENST00000382058.3_Splice_Site|FBXO7_ENST00000397426.1_Splice_Site	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7						cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCTTTTTCAGTTAGGGCCT	0.353																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e3-1		F-box protein 7							64.0	65.0	64.0					22																	32879882		2203	4300	6503	SO:0001630	splice_region_variant	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32879882A>T	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.418-1A>T	22.37:g.32879882A>T			Somatic				FBXO7_ENST00000397426.1_Splice_Site|FBXO7_ENST00000382058.3_Splice_Site		NM_012179.3	NP_036311.3	WXS	Illumina GAIIx	Phase_I	Q9Y3I1	FBX7_HUMAN			3	744	+								B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Splice_Site	SNP	ENST00000266087.7	37		CCDS13907.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.854895	0.71719	.	.	ENSG00000100225	ENST00000266087;ENST00000452138;ENST00000382058;ENST00000397426;ENST00000444207	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5387	0.67979	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBXO7	31209882	1.000000	0.71417	0.940000	0.37924	0.950000	0.60333	6.046000	0.71029	2.174000	0.68829	0.528000	0.53228	.		0.353	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1		Intron	5	89	0	0	0	1	0	5	89				
IGSF22	283284	broad.mit.edu	37	11	18729478	18729478	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:18729478A>T	ENST00000513874.1	-	20	3292	c.3153T>A	c.(3151-3153)atT>atA	p.I1051I	IGSF22_ENST00000510673.1_5'Flank|RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	654										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGCTCTTGGTAATTGTCTCTC	0.517																																						ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(3151-3153)atT>atA		immunoglobulin superfamily, member 22							181.0	178.0	179.0					11																	18729478		2031	4179	6210	SO:0001819	synonymous_variant	283284							g.chr11:18729478A>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.3153T>A	11.37:g.18729478A>T			Somatic				RP11-1081L13.4_ENST00000527285.1_RNA	p.I1051I	NM_173588.3	NP_775859.3	WXS	Illumina GAIIx	Phase_I	Q8N9C0	IGS22_HUMAN			20	3292	-			849					A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	c.3153T>A	CCDS41625.2																																																																																				0.517	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		6	345	0	0	0	1	0	6	345				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			4	239	0	0	0	1	0	4	239				
ASB10	136371	broad.mit.edu	37	7	150873237	150873237	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:150873237G>A	ENST00000420175.2	-	5	1390	c.1366C>T	c.(1366-1368)Cgc>Tgc	p.R456C	GBX1_ENST00000475831.1_5'Flank|ASB10_ENST00000377867.3_Missense_Mutation_p.R441C|ASB10_ENST00000275838.1_Missense_Mutation_p.R418C|ASB10_ENST00000434669.1_Missense_Mutation_p.R463C|ASB10_ENST00000422024.1_Missense_Mutation_p.R501C			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	456	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCAGGTAGCGGAGCAGGCGC	0.667																																						ENST00000422024.1																			0				NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(1501-1503)Cgc>Tgc		ankyrin repeat and SOCS box containing 10							24.0	26.0	26.0					7																	150873237		2198	4291	6489	SO:0001583	missense	136371				intracellular signal transduction			g.chr7:150873237G>A	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.1366C>T	7.37:g.150873237G>A	ENSP00000391137:p.Arg456Cys		Somatic				ASB10_ENST00000377867.3_Missense_Mutation_p.R441C|ASB10_ENST00000420175.2_Missense_Mutation_p.R456C|ASB10_ENST00000434669.1_Missense_Mutation_p.R463C|ASB10_ENST00000275838.1_Missense_Mutation_p.R418C	p.R501C	NM_001142459.1	NP_001135931.2	WXS	Illumina GAIIx	Phase_I	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	1626	-			456					A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.1501C>T	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797970	0.70567	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	4.73	3.81	0.43845	SOCS protein, C-terminal (3);	0.176792	0.50627	D	0.000110	T	0.67906	0.2943	M	0.80982	2.52	0.48185	D	0.999601	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.972;0.986;0.98	T	0.73113	-0.4085	10	0.72032	D	0.01	-11.9059	12.7469	0.57285	0.0:0.3111:0.6889:0.0	.	441;456;463	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	C	418;441;501;463;456	ENSP00000275838:R418C;ENSP00000367098:R441C;ENSP00000401369:R501C;ENSP00000398247:R463C;ENSP00000391137:R456C	ENSP00000275838:R418C	R	-	1	0	ASB10	150504170	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	2.684000	0.46951	2.176000	0.68965	0.655000	0.94253	CGC		0.667	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		7	25	0	0	0	1	0	7	25				
GFM1	85476	broad.mit.edu	37	3	158376782	158376782	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:158376782T>A	ENST00000486715.1	+	9	1512	c.1155T>A	c.(1153-1155)taT>taA	p.Y385*	GFM1_ENST00000478576.1_Nonsense_Mutation_p.Y385*|GFM1_ENST00000264263.5_Nonsense_Mutation_p.Y404*	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			ACACCATCTATAACACAAGGA	0.453																																						ENST00000486715.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22						c.(1153-1155)taT>taA		G elongation factor, mitochondrial 1							133.0	122.0	126.0					3																	158376782		2203	4300	6503	SO:0001587	stop_gained	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158376782T>A	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.1155T>A	3.37:g.158376782T>A	ENSP00000419038:p.Tyr385*		Somatic				GFM1_ENST00000264263.5_Nonsense_Mutation_p.Y404*|GFM1_ENST00000478576.1_Nonsense_Mutation_p.Y385*	p.Y385*	NM_024996.5	NP_079272.4	WXS	Illumina GAIIx	Phase_I	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		9	1512	+			385						Nonsense_Mutation	SNP	ENST00000486715.1	37	c.1155T>A	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	T	31	5.098747	0.94197	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	.	.	.	5.81	-9.29	0.00653	.	0.330369	0.33553	N	0.004787	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5045	15.5209	0.75866	0.0:0.6346:0.0726:0.2928	.	.	.	.	X	385;385;404	.	ENSP00000264263:Y404X	Y	+	3	2	GFM1	159859476	0.069000	0.21087	0.319000	0.25293	0.815000	0.46073	-0.679000	0.05203	-2.009000	0.00954	-0.274000	0.10170	TAT		0.453	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		5	137	0	0	0	1	0	5	137				
CDK5RAP1	51654	broad.mit.edu	37	20	31967381	31967381	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:31967381A>T	ENST00000357886.4	-	9	1188	c.1035T>A	c.(1033-1035)taT>taA	p.Y345*	CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000346416.2_Nonsense_Mutation_p.Y331*|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000473997.1_Nonsense_Mutation_p.Y241*|CDK5RAP1_ENST00000544843.1_Nonsense_Mutation_p.Y331*			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	345					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GCTTGGTTTTATAGTTGGTGG	0.473																																						ENST00000357886.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						c.(1033-1035)taT>taA		CDK5 regulatory subunit associated protein 1							115.0	118.0	117.0					20																	31967381		2203	4300	6503	SO:0001587	stop_gained	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31967381A>T	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.1035T>A	20.37:g.31967381A>T	ENSP00000350558:p.Tyr345*		Somatic				CDK5RAP1_ENST00000544843.1_Nonsense_Mutation_p.Y331*|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000346416.2_Nonsense_Mutation_p.Y331*|CDK5RAP1_ENST00000452723.3_Nonsense_Mutation_p.Y241*|CDK5RAP1_ENST00000339269.5_Intron	p.Y345*			WXS	Illumina GAIIx	Phase_I	Q96SZ6	CK5P1_HUMAN			9	1188	-			345					A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Nonsense_Mutation	SNP	ENST00000357886.4	37	c.1035T>A		.	.	.	.	.	.	.	.	.	.	A	37	6.482042	0.97603	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000452723;ENST00000544843	.	.	.	5.16	4.04	0.47022	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.0353	5.063	0.14566	0.8052:0.0:0.1948:0.0	.	.	.	.	X	331;345;241;331	.	ENSP00000217372:Y331X	Y	-	3	2	CDK5RAP1	31431042	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	4.225000	0.58600	2.162000	0.67917	0.459000	0.35465	TAT		0.473	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		5	152	0	0	0	1	0	5	152				
GRAMD1C	54762	broad.mit.edu	37	3	113649559	113649559	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:113649559A>T	ENST00000358160.4	+	11	1582		c.e11-1		GRAMD1C_ENST00000479212.1_Splice_Site|GRAMD1C_ENST00000440446.2_Splice_Site|GRAMD1C_ENST00000472026.1_Splice_Site|GRAMD1C_ENST00000452134.2_Splice_Site	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C							integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TGTTGTTGTTAGATGTAGTAT	0.343																																						ENST00000358160.4																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						c.e11-1		GRAM domain containing 1C							158.0	150.0	152.0					3																	113649559		2203	4300	6503	SO:0001630	splice_region_variant	54762					integral to membrane		g.chr3:113649559A>T		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1091-1A>T	3.37:g.113649559A>T			Somatic				GRAMD1C_ENST00000472026.1_Splice_Site|GRAMD1C_ENST00000440446.2_Splice_Site|GRAMD1C_ENST00000452134.2_Splice_Site|GRAMD1C_ENST00000479212.1_Splice_Site		NM_017577.4	NP_060047.3	WXS	Illumina GAIIx	Phase_I	Q8IYS0	GRM1C_HUMAN			11	1582	+								A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Splice_Site	SNP	ENST00000358160.4	37		CCDS33826.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.448563	0.84101	.	.	ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000462838;ENST00000440446	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.736	0.62817	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRAMD1C	115132249	1.000000	0.71417	0.995000	0.50966	0.937000	0.57800	7.091000	0.76923	2.236000	0.73375	0.533000	0.62120	.		0.343	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577	Intron	5	132	0	0	0	1	0	5	132				
HIAT1	64645	broad.mit.edu	37	1	100524220	100524220	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:100524220A>T	ENST00000370152.3	+	3	316		c.e3-1		RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTTATTCTTTAGGTATTACAT	0.274																																						ENST00000370152.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.e3-1		hippocampus abundant transcript 1							122.0	132.0	129.0					1																	100524220		2200	4289	6489	SO:0001630	splice_region_variant	64645				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr1:100524220A>T	AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.181-1A>T	1.37:g.100524220A>T			Somatic				RP4-714D9.2_ENST00000432294.1_RNA		NM_033055.2	NP_149044.2	WXS	Illumina GAIIx	Phase_I	Q96MC6	HIAT1_HUMAN		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	3	316	+		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)						Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Splice_Site	SNP	ENST00000370152.3	37		CCDS763.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.894409	0.52121	.	.	ENSG00000156875	ENST00000370152	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0053	0.71507	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HIAT1	100296808	1.000000	0.71417	0.999000	0.59377	0.656000	0.38851	9.339000	0.96797	2.019000	0.59389	0.402000	0.26972	.		0.274	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055	Intron	6	122	0	0	0	1	0	6	122				
C16orf62	57020	broad.mit.edu	37	16	19603110	19603110	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:19603110A>T	ENST00000251143.5	+	8	651		c.e8-1		C16orf62_ENST00000417362.2_Splice_Site|C16orf62_ENST00000538853.1_Splice_Site|C16orf62_ENST00000448695.1_Intron|C16orf62_ENST00000543152.1_Intron|C16orf62_ENST00000542263.1_Splice_Site|C16orf62_ENST00000438132.3_Splice_Site			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62							integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CTCTTTTTTTAGTGTTCAAAG	0.358																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.e8-1		chromosome 16 open reading frame 62							98.0	95.0	96.0					16																	19603110		2196	4300	6496	SO:0001630	splice_region_variant	57020					integral to membrane		g.chr16:19603110A>T		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.640-1A>T	16.37:g.19603110A>T			Somatic				C16orf62_ENST00000538853.1_Splice_Site|C16orf62_ENST00000543152.1_Intron|C16orf62_ENST00000542263.1_Splice_Site|C16orf62_ENST00000251143.5_Splice_Site|C16orf62_ENST00000448695.1_Intron|C16orf62_ENST00000417362.2_Splice_Site		NM_020314.5	NP_064710.4	WXS	Illumina GAIIx	Phase_I	Q7Z3J2	CP062_HUMAN			8	954	+								A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Splice_Site	SNP	ENST00000251143.5	37			.	.	.	.	.	.	.	.	.	.	A	20.2	3.949372	0.73787	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0998	0.65046	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C16orf62	19510611	1.000000	0.71417	0.988000	0.46212	0.976000	0.68499	7.615000	0.83006	2.145000	0.66743	0.533000	0.62120	.		0.358	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314	Intron	4	140	0	0	0	1	0	4	140				
APEH	327	broad.mit.edu	37	3	49719983	49719983	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:49719983C>T	ENST00000296456.5	+	19	2097	c.1697C>T	c.(1696-1698)gCa>gTa	p.A566V	AC099668.5_ENST00000563780.1_RNA|APEH_ENST00000438011.1_Missense_Mutation_p.A566V	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	566					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTGCAGTTTGCAGTGGAACAG	0.577																																						ENST00000296456.5																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(1696-1698)gCa>gTa		acylaminoacyl-peptide hydrolase							179.0	171.0	174.0					3																	49719983		2203	4300	6503	SO:0001583	missense	327				proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	g.chr3:49719983C>T	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.1697C>T	3.37:g.49719983C>T	ENSP00000296456:p.Ala566Val		Somatic				APEH_ENST00000438011.1_Missense_Mutation_p.A566V	p.A566V	NM_001640.3	NP_001631.3	WXS	Illumina GAIIx	Phase_I	P13798	ACPH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	19	2097	+			566					Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1697C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609965	0.66558	.	.	ENSG00000164062	ENST00000296456;ENST00000438011	T;T	0.30448	1.53;1.53	5.48	5.48	0.80851	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.045893	0.85682	D	0.000000	T	0.53753	0.1816	M	0.84219	2.685	0.80722	D	1	D;P	0.57257	0.979;0.923	P;P	0.57057	0.812;0.728	T	0.58434	-0.7637	10	0.54805	T	0.06	-33.4128	15.6847	0.77400	0.0:0.8629:0.137:0.0	.	566;566	C9JIF9;P13798	.;ACPH_HUMAN	V	566	ENSP00000296456:A566V;ENSP00000415862:A566V	ENSP00000296456:A566V	A	+	2	0	APEH	49694987	0.996000	0.38824	1.000000	0.80357	0.209000	0.24338	3.230000	0.51286	2.566000	0.86566	0.655000	0.94253	GCA		0.577	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			4	112	0	0	0	1	0	4	112				
UBE2W	55284	broad.mit.edu	37	8	74742650	74742650	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:74742650A>G	ENST00000602593.1	-	2	125	c.73T>C	c.(73-75)Tta>Cta	p.L25L	RP11-463D19.2_ENST00000358757.5_Silent_p.L25L|UBE2W_ENST00000517608.1_Silent_p.L54L|UBE2W_ENST00000602969.1_Silent_p.L36L|UBE2W_ENST00000419880.3_Silent_p.L65L|UBE2W_ENST00000453587.2_Silent_p.L25L			Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	25					cellular response to misfolded protein (GO:0071218)|DNA repair (GO:0006281)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein monoubiquitination (GO:0006513)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			TTCTCATTTAAGGTCATTCCA	0.328																																					Pancreas(14;490 592 20090 21022 23311)	ENST00000517608.1																			0				kidney(1)|lung(1)	2						c.(160-162)Tta>Cta		ubiquitin-conjugating enzyme E2W (putative)							132.0	126.0	128.0					8																	74742650		1819	4075	5894	SO:0001819	synonymous_variant	55284				protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr8:74742650A>G	AK001873	CCDS47874.1, CCDS47875.1, CCDS47874.2, CCDS47875.2	8q21.11	2010-07-07			ENSG00000104343	ENSG00000104343		"""Ubiquitin-conjugating enzymes E2"""	25616	protein-coding gene	gene with protein product		614277				12477932	Standard	NM_001001481		Approved	FLJ11011	uc003xzu.4	Q96B02	OTTHUMG00000164517	ENST00000602593.1:c.73T>C	8.37:g.74742650A>G			Somatic				UBE2W_ENST00000419880.3_Silent_p.L65L|UBE2W_ENST00000602969.1_Silent_p.L36L|UBE2W_ENST00000602593.1_Silent_p.L25L|UBE2W_ENST00000453587.2_Silent_p.L25L|RP11-463D19.2_ENST00000358757.5_Silent_p.L25L	p.L54L			WXS	Illumina GAIIx	Phase_I	Q96B02	UBE2W_HUMAN	Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)		2	160	-	Breast(64;0.0311)		25					B4DIV1|Q1XBE0|Q9H823|Q9HAG6|Q9NV07	Silent	SNP	ENST00000602593.1	37	c.160T>C																																																																																					0.328	UBE2W-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001481		4	255	0	0	0	1	0	4	255				
NUTM1	256646	broad.mit.edu	37	15	34649099	34649099	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:34649099G>T	ENST00000333756.4	+	7	2961	c.2806G>T	c.(2806-2808)Gtg>Ttg	p.V936L	NUTM1_ENST00000537011.1_Missense_Mutation_p.V964L|NUTM1_ENST00000438749.3_Missense_Mutation_p.V954L	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	936						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGAAGGCAGGGTGGATCCTGA	0.493																																						ENST00000537011.1																			0											c.(2890-2892)Gtg>Ttg		NUT midline carcinoma, family member 1							71.0	64.0	67.0					15																	34649099		2201	4298	6499	SO:0001583	missense	256646							g.chr15:34649099G>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2806G>T	15.37:g.34649099G>T	ENSP00000329448:p.Val936Leu		Somatic				NUTM1_ENST00000438749.3_Missense_Mutation_p.V954L|NUTM1_ENST00000333756.4_Missense_Mutation_p.V936L	p.V964L			WXS	Illumina GAIIx	Phase_I					8	3272	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.2890G>T	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237893	0.39598	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.08193	3.12;3.12;3.12	5.09	4.18	0.49190	.	0.540277	0.18199	N	0.148581	T	0.08670	0.0215	L	0.34521	1.04	0.09310	N	0.999999	B;B;B	0.24920	0.07;0.114;0.033	B;B;B	0.33196	0.076;0.159;0.019	T	0.25779	-1.0122	10	0.45353	T	0.12	.	9.3306	0.38018	0.0965:0.0:0.9035:0.0	.	954;964;936	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	L	964;954;936	ENSP00000444896:V964L;ENSP00000407031:V954L;ENSP00000329448:V936L	ENSP00000329448:V936L	V	+	1	0	C15orf55	32436391	0.999000	0.42202	0.283000	0.24790	0.007000	0.05969	1.270000	0.33086	1.384000	0.46424	-0.136000	0.14681	GTG		0.493	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		4	289	1	0	0.000602214	1	0.000617856	4	289				
TNFSF10	8743	broad.mit.edu	37	3	172224541	172224541	+	Missense_Mutation	SNP	A	A	T	rs142608031		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:172224541A>T	ENST00000241261.2	-	5	709	c.587T>A	c.(586-588)aTa>aAa	p.I196K	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	196					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)	p.I196K(1)		breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GTTTTCTTTTATTTCCTCCTG	0.348																																						ENST00000241261.2																			1	Substitution - Missense(1)	p.I196K(1)	skin(1)	breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15						c.(586-588)aTa>aAa		tumor necrosis factor (ligand) superfamily, member 10							224.0	217.0	220.0					3																	172224541		2203	4300	6503	SO:0001583	missense	8743				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	g.chr3:172224541A>T	U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.587T>A	3.37:g.172224541A>T	ENSP00000241261:p.Ile196Lys		Somatic				TNFSF10_ENST00000420541.2_3'UTR	p.I196K	NM_003810.3	NP_003801.1	WXS	Illumina GAIIx	Phase_I	P50591	TNF10_HUMAN	Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		5	709	-	Ovarian(172;0.00197)|Breast(254;0.158)		196					A1Y9B3	Missense_Mutation	SNP	ENST00000241261.2	37	c.587T>A	CCDS3219.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.783508	0.00628	.	.	ENSG00000121858	ENST00000241261	D	0.93859	-3.3	4.84	-4.97	0.03029	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	1.453300	0.03511	N	0.219532	T	0.77308	0.4111	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.75897	-0.3155	10	0.06099	T	0.92	0.3419	4.9333	0.13928	0.1886:0.176:0.5401:0.0953	.	196	P50591	TNF10_HUMAN	K	196	ENSP00000241261:I196K	ENSP00000241261:I196K	I	-	2	0	TNFSF10	173707235	0.000000	0.05858	0.000000	0.03702	0.305000	0.27757	-0.689000	0.05144	-0.680000	0.05211	-0.256000	0.11100	ATA		0.348	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1			4	152	0	0	0	1	0	4	152				
C1S	716	broad.mit.edu	37	12	7172402	7172402	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:7172402A>T	ENST00000406697.1	+	9	1145		c.e9-1		C1S_ENST00000328916.3_Splice_Site|C1S_ENST00000360817.5_Splice_Site|C1S_ENST00000402681.3_Splice_Site			P09871	C1S_HUMAN	complement component 1, s subcomponent						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTTCTCTGTTAGTTAATTGCA	0.418																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.e9-1		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						66.0	65.0	65.0					12																	7172402		2203	4300	6503	SO:0001630	splice_region_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7172402A>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.518-1A>T	12.37:g.7172402A>T			Somatic				C1S_ENST00000328916.3_Splice_Site|C1S_ENST00000402681.3_Splice_Site|C1S_ENST00000360817.5_Splice_Site				WXS	Illumina GAIIx	Phase_I	P09871	C1S_HUMAN			9	1145	+								D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Splice_Site	SNP	ENST00000406697.1	37		CCDS31735.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.745149	0.30955	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1S	7042663	1.000000	0.71417	0.987000	0.45799	0.181000	0.23173	7.053000	0.76641	2.371000	0.80710	0.533000	0.62120	.		0.418	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734	Intron	12	124	0	0	0	1	0	12	124				
KMT2D	8085	broad.mit.edu	37	12	49442951	49442951	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:49442951A>T	ENST00000301067.7	-	12	3956	c.3957T>A	c.(3955-3957)caT>caA	p.H1319Q		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1319	Arg-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CACGTCCTCCATGGGCTCCTC	0.572																																						ENST00000301067.7																			0											c.(3955-3957)caT>caA		lysine (K)-specific methyltransferase 2D							48.0	51.0	50.0					12																	49442951		1980	4146	6126	SO:0001583	missense	8085							g.chr12:49442951A>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3957T>A	12.37:g.49442951A>T	ENSP00000301067:p.His1319Gln		Somatic					p.H1319Q	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					12	3956	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.3957T>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.028464	0.35797	.	.	ENSG00000167548	ENST00000301067	T	0.79033	-1.23	5.78	0.768	0.18487	.	0.000000	0.36555	N	0.002535	T	0.61110	0.2321	N	0.22421	0.69	0.24821	N	0.992582	D	0.54601	0.967	B	0.41036	0.346	T	0.59032	-0.7530	10	0.87932	D	0	.	9.1674	0.37060	0.555:0.0:0.445:0.0	.	1319	O14686	MLL2_HUMAN	Q	1319	ENSP00000301067:H1319Q	ENSP00000301067:H1319Q	H	-	3	2	MLL2	47729218	0.003000	0.15002	0.997000	0.53966	0.963000	0.63663	-0.555000	0.05999	0.106000	0.17784	0.260000	0.18958	CAT		0.572	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			6	21	0	0	0	1	0	6	21				
FFAR4	338557	broad.mit.edu	37	10	95335917	95335917	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:95335917A>T	ENST00000371483.4	+	2	693	c.637A>T	c.(637-639)Act>Tct	p.T213S	FFAR4_ENST00000371481.4_Missense_Mutation_p.T213S|FFAR4_ENST00000604414.1_Missense_Mutation_p.T213S	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	213					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)										CTCTTTTGTTACTTTGAACTT	0.423																																						ENST00000371483.4																			0											c.(637-639)Act>Tct		free fatty acid receptor 4							280.0	248.0	259.0					10																	95335917		2203	4300	6503	SO:0001583	missense	338557							g.chr10:95335917A>T		CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"""GPCR / Class A : Fatty acid receptors"""	19061	protein-coding gene	gene with protein product		609044	"""G protein-coupled receptor 129"", ""G protein-coupled receptor 120"", ""omega-3 fatty acid receptor 1"""	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.637A>T	10.37:g.95335917A>T	ENSP00000360538:p.Thr213Ser		Somatic				FFAR4_ENST00000604414.1_Missense_Mutation_p.T213S|FFAR4_ENST00000371481.4_Missense_Mutation_p.T213S	p.T213S	NM_181745.3	NP_859529.2	WXS	Illumina GAIIx	Phase_I					2	693	+								Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Missense_Mutation	SNP	ENST00000371483.4	37	c.637A>T	CCDS31248.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.194166	0.38707	.	.	ENSG00000186188	ENST00000371481;ENST00000371483	T;T	0.72167	-0.63;-0.63	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.304162	0.27371	N	0.019676	T	0.57562	0.2062	L	0.34521	1.04	0.23693	N	0.997093	P;B	0.39216	0.664;0.07	B;B	0.38500	0.275;0.025	T	0.56631	-0.7947	10	0.52906	T	0.07	-2.0637	6.9634	0.24610	0.791:0.0:0.0745:0.1344	.	213;213	Q5NUL3-2;Q5NUL3	.;O3FA1_HUMAN	S	213	ENSP00000360536:T213S;ENSP00000360538:T213S	ENSP00000360536:T213S	T	+	1	0	O3FAR1	95325907	0.001000	0.12720	0.609000	0.28983	0.818000	0.46254	1.020000	0.30027	2.161000	0.67846	0.533000	0.62120	ACT		0.423	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083179.1	NM_181745		9	705	0	0	0	1	0	9	705				
ATP1A4	480	broad.mit.edu	37	1	160143468	160143468	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:160143468C>G	ENST00000368081.4	+	13	2423	c.1952C>G	c.(1951-1953)gCt>gGt	p.A651G	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	651					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGGAAGTCGCTGCCCGGCTT	0.547																																						ENST00000368081.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(1951-1953)gCt>gGt		ATPase, Na+/K+ transporting, alpha 4 polypeptide							104.0	83.0	91.0					1																	160143468		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160143468C>G	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1952C>G	1.37:g.160143468C>G	ENSP00000357060:p.Ala651Gly		Somatic				ATP1A4_ENST00000418334.1_3'UTR	p.A651G	NM_144699.3	NP_653300.2	WXS	Illumina GAIIx	Phase_I	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		13	2423	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		651					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.1952C>G	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557012	0.65425	.	.	ENSG00000132681	ENST00000368081	D	0.97352	-4.35	4.34	4.34	0.51931	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.053389	0.64402	D	0.000001	D	0.97383	0.9144	M	0.67517	2.055	0.80722	D	1	P	0.42039	0.769	P	0.57468	0.821	D	0.98389	1.0562	10	0.87932	D	0	.	14.7398	0.69445	0.0:1.0:0.0:0.0	.	651	Q13733	AT1A4_HUMAN	G	651	ENSP00000357060:A651G	ENSP00000357060:A651G	A	+	2	0	ATP1A4	158410092	1.000000	0.71417	0.912000	0.35992	0.107000	0.19398	7.625000	0.83145	2.407000	0.81776	0.655000	0.94253	GCT		0.547	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		43	179	0	0	0	1	0	43	179				
AS3MT	57412	broad.mit.edu	37	10	104638239	104638239	+	Silent	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:104638239T>A	ENST00000369880.3	+	8	791	c.714T>A	c.(712-714)atT>atA	p.I238I	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase	238					arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		TCATTACAATTCAAAACAAGG	0.408																																						ENST00000369880.3																			0				large_intestine(1)|lung(6)	7						c.(712-714)atT>atA		arsenic (+3 oxidation state) methyltransferase							158.0	148.0	151.0					10																	104638239		1866	4129	5995	SO:0001819	synonymous_variant	57412				arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity	g.chr10:104638239T>A	AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"""arsenic (+3 oxidation state) methyltransferase"""			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.714T>A	10.37:g.104638239T>A			Somatic				C10ORF32_ENST00000299353.6_3'UTR	p.I238I	NM_020682.3	NP_065733.2	WXS	Illumina GAIIx	Phase_I	Q9HBK9	AS3MT_HUMAN		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)	8	791	+		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)	238					A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Silent	SNP	ENST00000369880.3	37	c.714T>A	CCDS41567.1																																																																																				0.408	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050107.1	NM_020682		6	290	0	0	0	1	0	6	290				
GEMIN8	54960	broad.mit.edu	37	X	14038511	14038511	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:14038511G>C	ENST00000380523.4	-	4	476	c.158C>G	c.(157-159)cCa>cGa	p.P53R	GEMIN8_ENST00000398355.3_Missense_Mutation_p.P53R|GEMIN8_ENST00000460203.1_5'UTR	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	53					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						TAAGTACCATGGAAGATTGAA	0.473																																						ENST00000380523.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						c.(157-159)cCa>cGa		gem (nuclear organelle) associated protein 8							131.0	116.0	121.0					X																	14038511		2203	4300	6503	SO:0001583	missense	54960				spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding	g.chrX:14038511G>C	BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"""family with sequence similarity 51, member A1"""	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.158C>G	X.37:g.14038511G>C	ENSP00000369895:p.Pro53Arg		Somatic				GEMIN8_ENST00000398355.3_Missense_Mutation_p.P53R|GEMIN8_ENST00000460203.1_5'UTR	p.P53R	NM_017856.2	NP_060326.1	WXS	Illumina GAIIx	Phase_I	Q9NWZ8	GEMI8_HUMAN			4	476	-			53					C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	37	c.158C>G	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	g	13.98	2.399687	0.42512	.	.	ENSG00000046647	ENST00000380523;ENST00000398355;ENST00000332885	T;T;T	0.43688	0.94;0.94;0.94	4.98	2.25	0.28309	.	0.520319	0.20818	N	0.085113	T	0.55924	0.1951	M	0.72894	2.215	0.09310	N	1	D	0.63046	0.992	P	0.62298	0.9	T	0.48681	-0.9014	10	0.72032	D	0.01	.	8.5531	0.33465	0.2582:0.0:0.7418:0.0	.	53	Q9NWZ8	GEMI8_HUMAN	R	53	ENSP00000369895:P53R;ENSP00000381398:P53R;ENSP00000369894:P53R	ENSP00000369894:P53R	P	-	2	0	GEMIN8	13948432	0.012000	0.17670	0.001000	0.08648	0.024000	0.10985	1.582000	0.36568	0.057000	0.16193	0.523000	0.50628	CCA		0.473	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055815.1	NM_017856		7	266	0	0	0	1	0	7	266				
TTN	7273	broad.mit.edu	37	2	179584416	179584416	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:179584416G>A	ENST00000591111.1	-	80	23076	c.22852C>T	c.(22852-22854)Cat>Tat	p.H7618Y	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.H6691Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.H7935Y			Q8WZ42	TITIN_HUMAN	titin	13168	Ig-like 58.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAATGTGATGTTTGCTGTCT	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(23803-23805)Cat>Tat		titin							172.0	161.0	165.0					2																	179584416		1900	4117	6017	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584416G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22852C>T	2.37:g.179584416G>A	ENSP00000465570:p.His7618Tyr		Somatic				TTN_ENST00000591111.1_Missense_Mutation_p.H7618Y|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.H6691Y	p.H7935Y	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		82	24027	-			7618			Ig-like 61.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.23803C>T		.	.	.	.	.	.	.	.	.	.	G	8.460	0.855189	0.17106	.	.	ENSG00000155657	ENST00000342992	T	0.64438	-0.1	6.08	6.08	0.98989	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37433	0.1003	N	0.02225	-0.63	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.33343	-0.9872	9	0.87932	D	0	.	10.5846	0.45275	0.1457:0.0:0.8543:0.0	.	7618	Q8WZ42	TITIN_HUMAN	Y	6691	ENSP00000343764:H6691Y	ENSP00000343764:H6691Y	H	-	1	0	TTN	179292661	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	1.580000	0.36547	2.894000	0.99253	0.655000	0.94253	CAT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	151	0	0	0	1	0	11	151				
ATG2B	55102	broad.mit.edu	37	14	96768447	96768447	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:96768447T>A	ENST00000359933.4	-	34	5931		c.e34-2		ATG2B_ENST00000261834.5_Splice_Site	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B						autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CACTGTCAACTACAAGGCAAG	0.408																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.e34-2		autophagy related 2B							67.0	61.0	63.0					14																	96768447		2203	4300	6503	SO:0001630	splice_region_variant	55102							g.chr14:96768447T>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.5038-2A>T	14.37:g.96768447T>A			Somatic				ATG2B_ENST00000261834.5_Splice_Site		NM_018036.5	NP_060506.5	WXS	Illumina GAIIx	Phase_I	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	34	5931	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)						Q6ZRE7|Q96DQ3|Q9NW80	Splice_Site	SNP	ENST00000359933.4	37		CCDS9944.2	.	.	.	.	.	.	.	.	.	.	T	21.4	4.140893	0.77775	.	.	ENSG00000066739	ENST00000359933	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3541	0.83228	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATG2B	95838200	1.000000	0.71417	0.983000	0.44433	0.826000	0.46750	7.265000	0.78442	2.323000	0.78572	0.533000	0.62120	.		0.408	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036	Intron	5	113	0	0	0	1	0	5	113				
FUS	2521	broad.mit.edu	37	16	31195528	31195528	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:31195528A>T	ENST00000254108.7	+	5	440		c.e5-1		FUS_ENST00000380244.3_Splice_Site|RP11-388M20.6_ENST00000564743.1_RNA|FUS_ENST00000568685.1_Splice_Site	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein						cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TGTTTTCCCTAGTTACGGTAG	0.507			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	ENST00000254108.7				Dom	yes		16	16p11.2	2521	T	"""fusion, derived from t(12;16) malignant liposarcoma"""			"""M, L"""	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""		"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	0				breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22						c.e5-1		fused in sarcoma							98.0	99.0	98.0					16																	31195528		2197	4300	6497	SO:0001630	splice_region_variant	2521				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31195528A>T	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.336-1A>T	16.37:g.31195528A>T			Somatic				FUS_ENST00000568685.1_Splice_Site|FUS_ENST00000380244.3_Splice_Site		NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	WXS	Illumina GAIIx	Phase_I	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	5	440	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)						Q9H4A8	Splice_Site	SNP	ENST00000254108.7	37		CCDS10707.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.958872	0.34565	.	.	ENSG00000089280	ENST00000254108;ENST00000394533	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2832	0.66226	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FUS	31103029	1.000000	0.71417	0.916000	0.36221	0.353000	0.29299	5.623000	0.67757	2.000000	0.58554	0.383000	0.25322	.		0.507	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960	Intron	5	208	0	0	0	1	0	5	208				
MYOM1	8736	broad.mit.edu	37	18	3155065	3155065	+	Missense_Mutation	SNP	C	C	T	rs570677625		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr18:3155065C>T	ENST00000356443.4	-	11	1856	c.1523G>A	c.(1522-1524)gGa>gAa	p.G508E	MYOM1_ENST00000400569.3_Missense_Mutation_p.G508E|MYOM1_ENST00000261606.7_Missense_Mutation_p.G508E	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	508					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.G508E(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGCTGGGGCTCCTTCAATCTC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		17634	0.0		0.0	False		,,,				2504	0.001					ENST00000400569.3																			1	Substitution - Missense(1)	p.G508E(1)	lung(1)	NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1522-1524)gGa>gAa		myomesin 1							48.0	48.0	48.0					18																	3155065		1986	4158	6144	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3155065C>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1523G>A	18.37:g.3155065C>T	ENSP00000348821:p.Gly508Glu		Somatic				MYOM1_ENST00000261606.7_Missense_Mutation_p.G508E|MYOM1_ENST00000356443.4_Missense_Mutation_p.G508E	p.G508E			WXS	Illumina GAIIx	Phase_I	P52179	MYOM1_HUMAN			11	1856	-			508					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.1523G>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601352	0.87055	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.60299	0.2;0.2;0.2	4.88	4.88	0.63580	Fibronectin, type III (1);	0.055744	0.64402	D	0.000001	T	0.73171	0.3553	M	0.67700	2.07	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.988	T	0.68569	-0.5374	10	0.21540	T	0.41	.	18.2214	0.89903	0.0:1.0:0.0:0.0	.	508;508	P52179-2;P52179	.;MYOM1_HUMAN	E	508	ENSP00000348821:G508E;ENSP00000383413:G508E;ENSP00000261606:G508E	ENSP00000261606:G508E	G	-	2	0	MYOM1	3145065	1.000000	0.71417	0.998000	0.56505	0.850000	0.48378	7.577000	0.82486	2.528000	0.85240	0.650000	0.86243	GGA		0.527	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		22	118	0	0	0	1	0	22	118				
MTHFD1	4522	broad.mit.edu	37	14	64898248	64898248	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:64898248A>T	ENST00000545908.1	+	14	1708		c.e14-1		CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.8_Splice_Site			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase						folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GTTCTTTTGTAGTTTAATCTC	0.433																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	ENST00000555709.1																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30						c.e14-1		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						76.0	64.0	68.0					14																	64898248		2203	4300	6503	SO:0001630	splice_region_variant	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	g.chr14:64898248A>T	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.1480-1A>T	14.37:g.64898248A>T			Somatic				CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000555252.1_Splice_Site|MTHFD1_ENST00000216605.7_Splice_Site|MTHFD1_ENST00000545908.1_Splice_Site		NM_005956.3	NP_005947.3	WXS	Illumina GAIIx	Phase_I	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	14	1698	+								B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Splice_Site	SNP	ENST00000545908.1	37			.	.	.	.	.	.	.	.	.	.	A	24.8	4.568696	0.86439	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTHFD1	63968001	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.306000	0.78905	2.371000	0.80710	0.533000	0.62120	.		0.433	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1		Intron	4	59	0	0	0	1	0	4	59				
INTS7	25896	broad.mit.edu	37	1	212180017	212180017	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:212180017A>T	ENST00000366994.3	-	7	947	c.843T>A	c.(841-843)aaT>aaA	p.N281K	INTS7_ENST00000366993.3_Missense_Mutation_p.N281K|INTS7_ENST00000366992.3_Missense_Mutation_p.N281K|INTS7_ENST00000440600.2_Missense_Mutation_p.N232K|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	281					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GTGGTGTTTTATTAGCAAGTA	0.294																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(841-843)aaT>aaA		integrator complex subunit 7							112.0	113.0	112.0					1																	212180017		2203	4300	6503	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212180017A>T	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.843T>A	1.37:g.212180017A>T	ENSP00000355961:p.Asn281Lys		Somatic				INTS7_ENST00000366992.3_Missense_Mutation_p.N281K|INTS7_ENST00000440600.2_Missense_Mutation_p.N232K|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Missense_Mutation_p.N281K	p.N281K	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	WXS	Illumina GAIIx	Phase_I	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	7	947	-			281					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.843T>A	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	A	0.056	-1.236096	0.01505	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.5	3.18	0.36537	Armadillo-like helical (1);Armadillo-type fold (1);	0.270596	0.46758	D	0.000280	T	0.08268	0.0206	N	0.04880	-0.145	0.32488	N	0.54058	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.34825	-0.9813	10	0.02654	T	1	-5.7751	10.7513	0.46211	0.7996:0.0:0.2004:0.0	.	232;281;281;281	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	K	281;281;281;232	ENSP00000355961:N281K;ENSP00000355960:N281K;ENSP00000355959:N281K;ENSP00000388908:N232K	ENSP00000355959:N281K	N	-	3	2	INTS7	210246640	1.000000	0.71417	0.705000	0.30386	0.429000	0.31625	1.282000	0.33226	0.451000	0.26802	-1.431000	0.01090	AAT		0.294	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		4	89	0	0	0	1	0	4	89				
MSR1	4481	broad.mit.edu	37	8	15967631	15967631	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:15967631G>T	ENST00000262101.5	-	10	1440	c.1319C>A	c.(1318-1320)tCa>tAa	p.S440*	MSR1_ENST00000445506.2_Nonsense_Mutation_p.S458*|MSR1_ENST00000350896.3_Nonsense_Mutation_p.S377*|MSR1_ENST00000355282.2_Nonsense_Mutation_p.S377*			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	440	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTCAGAATGTGAACAGGCTCT	0.378																																						ENST00000350896.3																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1129-1131)tCa>tAa		macrophage scavenger receptor 1							94.0	95.0	95.0					8																	15967631		2203	4300	6503	SO:0001587	stop_gained	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:15967631G>T	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.1319C>A	8.37:g.15967631G>T	ENSP00000262101:p.Ser440*		Somatic				MSR1_ENST00000262101.5_Nonsense_Mutation_p.S440*|MSR1_ENST00000355282.2_Nonsense_Mutation_p.S377*|MSR1_ENST00000445506.2_Nonsense_Mutation_p.S458*	p.S377*	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	WXS	Illumina GAIIx	Phase_I	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	9	1327	-			440			SRCR.		D3DSP3|O60505|P21759|Q45F10	Nonsense_Mutation	SNP	ENST00000262101.5	37	c.1130C>A	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614835	0.87359	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282	.	.	.	5.08	3.17	0.36434	.	0.947166	0.08646	N	0.914733	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	7.351	0.26691	0.0:0.1823:0.6291:0.1886	.	.	.	.	X	377;440;458;377	.	ENSP00000262101:S440X	S	-	2	0	MSR1	16012002	0.883000	0.30277	0.400000	0.26346	0.391000	0.30476	1.658000	0.37376	2.515000	0.84797	0.650000	0.86243	TCA		0.378	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			21	93	1	0	3.8784e-16	1	4.15449e-16	21	93				
SLC25A32	81034	broad.mit.edu	37	8	104427735	104427735	+	5'Flank	SNP	T	T	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:104427735T>G	ENST00000297578.4	-	0	0				DCAF13_ENST00000519682.1_Missense_Mutation_p.L17V|SLC25A32_ENST00000543107.1_5'Flank|DCAF13_ENST00000521999.1_3'UTR|DCAF13_ENST00000521716.1_Missense_Mutation_p.L17V|DCAF13_ENST00000521971.1_Missense_Mutation_p.L17V|DCAF13_ENST00000297579.5_Missense_Mutation_p.L173V	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32						folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	CAAGTTGGACTTACAGAGAGG	0.567																																						ENST00000297579.5																			0				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(517-519)Tta>Gta		DDB1 and CUL4 associated factor 13							25.0	28.0	27.0					8																	104427735		2201	4300	6501	SO:0001631	upstream_gene_variant	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104427735T>G	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790		8.37:g.104427735T>G	Exception_encountered		Somatic				DCAF13_ENST00000521716.1_Missense_Mutation_p.L17V|DCAF13_ENST00000521971.1_Missense_Mutation_p.L17V|DCAF13_ENST00000521999.1_3'UTR|DCAF13_ENST00000519682.1_Missense_Mutation_p.L17V	p.L173V	NM_015420.6	NP_056235.4	WXS	Illumina GAIIx	Phase_I	Q9NV06	DCA13_HUMAN			1	794	+			21					Q96JZ6|Q96SU7	Missense_Mutation	SNP	ENST00000297578.4	37	c.517T>G	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.930983	0.34096	.	.	ENSG00000164934	ENST00000297579;ENST00000521716;ENST00000521971;ENST00000388778;ENST00000519682	T;T;T;T	0.01359	4.98;4.98;4.98;4.98	4.67	-0.596	0.11657	.	0.374067	0.26390	N	0.024658	T	0.00815	0.0027	N	0.13043	0.29	0.30899	N	0.729525	B	0.15719	0.014	B	0.14023	0.01	T	0.42531	-0.9446	10	0.19590	T	0.45	-3.1328	3.1866	0.06603	0.3548:0.2512:0.0:0.394	.	21	B3KME9	.	V	173;17;17;21;17	ENSP00000297579:L173V;ENSP00000430645:L17V;ENSP00000430883:L17V;ENSP00000430411:L17V	ENSP00000297579:L173V	L	+	1	2	DCAF13	104496911	0.998000	0.40836	0.997000	0.53966	0.988000	0.76386	1.178000	0.31981	0.032000	0.15435	0.533000	0.62120	TTA		0.567	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		44	39	0	0	0	1	0	44	39				
WDHD1	11169	broad.mit.edu	37	14	55448374	55448374	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:55448374C>G	ENST00000360586.3	-	16	2012	c.1947G>C	c.(1945-1947)atG>atC	p.M649I	WDHD1_ENST00000421192.1_Missense_Mutation_p.M526I|WDHD1_ENST00000359167.4_Missense_Mutation_p.M167I|WDHD1_ENST00000420358.2_Missense_Mutation_p.M526I	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	649					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CTCTGTTAAGCATTCGAACAA	0.403																																						ENST00000360586.3																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.(1945-1947)atG>atC		WD repeat and HMG-box DNA binding protein 1							115.0	100.0	105.0					14																	55448374		2203	4300	6503	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55448374C>G	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.1947G>C	14.37:g.55448374C>G	ENSP00000353793:p.Met649Ile		Somatic				WDHD1_ENST00000420358.2_Missense_Mutation_p.M526I|WDHD1_ENST00000421192.1_Missense_Mutation_p.M526I|WDHD1_ENST00000359167.4_Missense_Mutation_p.M167I	p.M649I	NM_007086.3	NP_009017.1	WXS	Illumina GAIIx	Phase_I	O75717	WDHD1_HUMAN			16	2012	-			649					C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.1947G>C	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627379	0.46944	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.61392	0.5;0.93;0.11	5.71	4.82	0.62117	.	0.173980	0.64402	D	0.000011	T	0.44829	0.1312	L	0.31371	0.925	0.49389	D	0.999781	B;B	0.12013	0.005;0.0	B;B	0.15870	0.014;0.003	T	0.27571	-1.0070	10	0.19147	T	0.46	-15.1354	15.0405	0.71788	0.0:0.931:0.0:0.069	.	167;649	F8W7P7;O75717	.;WDHD1_HUMAN	I	649;167;526	ENSP00000353793:M649I;ENSP00000352085:M167I;ENSP00000391049:M526I	ENSP00000352085:M167I	M	-	3	0	WDHD1	54518124	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.708000	0.61859	2.708000	0.92522	0.585000	0.79938	ATG		0.403	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		23	84	0	0	0	1	0	23	84				
U2SURP	23350	broad.mit.edu	37	3	142740313	142740313	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:142740313A>T	ENST00000473835.2	+	10	859		c.e10-1		U2SURP_ENST00000397933.2_Splice_Site|U2SURP_ENST00000493598.2_Splice_Site	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing						RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TTTCTGCCCTAGTTCTTGATG	0.328																																						ENST00000397933.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.e10-1		U2 snRNP-associated SURP domain containing							79.0	70.0	73.0					3																	142740313		1821	4084	5905	SO:0001630	splice_region_variant	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142740313A>T	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.770-1A>T	3.37:g.142740313A>T			Somatic				U2SURP_ENST00000473835.2_Splice_Site|U2SURP_ENST00000493598.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	O15042	SR140_HUMAN			10	868	+								A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Splice_Site	SNP	ENST00000473835.2	37		CCDS46928.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.340030	0.60963	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000493598	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7038	0.77563	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	U2SURP	144223003	1.000000	0.71417	0.956000	0.39512	0.601000	0.36947	8.962000	0.93254	2.105000	0.64084	0.383000	0.25322	.		0.328	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415	Intron	3	52	0	0	0	1	0	3	52				
TPM3P9	147804	broad.mit.edu	37	19	53945909	53945909	+	RNA	SNP	T	T	C	rs28727441	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:53945909T>C	ENST00000424846.3	+	0	906				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		ACCCTGACTCTGCCTGAGGCC	0.562													N|||	2656	0.530351	0.5348	0.5533	5008	,	,		11317	0.2728		0.6402	False		,,,				2504	0.6605					ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53945909T>C			19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53945909T>C			Somatic				TPM3P9_ENST00000424846.3_RNA				WXS	Illumina GAIIx	Phase_I	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	55	+									RNA	SNP	ENST00000424846.3	37																																																																																						0.562	TPM3P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347070.1	NR_003148		5	251	0	0	0	1	0	5	251				
CDCP2	200008	broad.mit.edu	37	1	54610216	54610216	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:54610216G>A	ENST00000371330.1	-	2	1197	c.350C>T	c.(349-351)tCc>tTc	p.S117F	RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_Intron	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	117	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GACATGCCAGGAGGAGGTGAA	0.602																																						ENST00000371330.1																			0				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						c.(349-351)tCc>tTc		CUB domain containing protein 2							58.0	57.0	57.0					1																	54610216		2203	4300	6503	SO:0001583	missense	200008					extracellular region		g.chr1:54610216G>A		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.350C>T	1.37:g.54610216G>A	ENSP00000360381:p.Ser117Phe		Somatic				RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_Intron	p.S117F	NM_201546.2	NP_963840.2	WXS	Illumina GAIIx	Phase_I	Q5VXM1	CDCP2_HUMAN			2	1197	-			117			CUB 1.		Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	c.350C>T	CCDS588.2	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011482	0.93346	.	.	ENSG00000157211	ENST00000371330	T	0.19532	2.14	5.36	5.36	0.76844	CUB (5);	0.144256	0.47852	D	0.000210	T	0.48295	0.1492	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.45512	-0.9256	10	0.56958	D	0.05	-35.5995	19.0949	0.93246	0.0:0.0:1.0:0.0	.	117	Q5VXM1	CDCP2_HUMAN	F	117	ENSP00000360381:S117F	ENSP00000360381:S117F	S	-	2	0	CDCP2	54382804	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	9.802000	0.99131	2.508000	0.84585	0.591000	0.81541	TCC		0.602	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		23	68	0	0	0	1	0	23	68				
ARMC8	25852	broad.mit.edu	37	3	137947854	137947854	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:137947854T>A	ENST00000469044.1	+	6	799		c.e6+2		ARMC8_ENST00000538260.1_Intron|ARMC8_ENST00000491704.1_Splice_Site|ARMC8_ENST00000461822.1_Splice_Site|ARMC8_ENST00000470821.1_Splice_Site|ARMC8_ENST00000481646.1_Splice_Site|ARMC8_ENST00000471453.1_Splice_Site|ARMC8_ENST00000485396.1_Intron|ARMC8_ENST00000489213.1_Splice_Site|ARMC8_ENST00000358441.2_Splice_Site|ARMC8_ENST00000393058.3_Splice_Site	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8											endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TGCTGTAAAGTAAGAACCAGA	0.418																																						ENST00000469044.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.e6+2		armadillo repeat containing 8							63.0	57.0	59.0					3																	137947854		2203	4300	6503	SO:0001630	splice_region_variant	25852						binding	g.chr3:137947854T>A		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.528+2T>A	3.37:g.137947854T>A			Somatic				ARMC8_ENST00000471453.1_Splice_Site|ARMC8_ENST00000538260.1_Intron|ARMC8_ENST00000470821.1_Splice_Site|ARMC8_ENST00000461822.1_Splice_Site|ARMC8_ENST00000358441.2_Splice_Site|ARMC8_ENST00000481646.1_Splice_Site|ARMC8_ENST00000489213.1_Splice_Site|ARMC8_ENST00000485396.1_Intron|ARMC8_ENST00000491704.1_Splice_Site|ARMC8_ENST00000393058.3_Splice_Site		NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	WXS	Illumina GAIIx	Phase_I	Q8IUR7	ARMC8_HUMAN			6	799	+								A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Splice_Site	SNP	ENST00000469044.1	37			.	.	.	.	.	.	.	.	.	.	T	20.4	3.990917	0.74703	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000461600;ENST00000358441;ENST00000489213;ENST00000461822;ENST00000471453;ENST00000470821;ENST00000393058;ENST00000463485;ENST00000539459	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2629	0.60115	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARMC8	139430544	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.930000	0.87610	2.034000	0.60081	0.454000	0.30748	.		0.418	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396	Intron	4	64	0	0	0	1	0	4	64				
VDAC3	7419	broad.mit.edu	37	8	42260890	42260890	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:42260890T>C	ENST00000022615.4	+	8	681	c.613T>C	c.(613-615)Tcc>Ccc	p.S205P	VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000521158.1_Missense_Mutation_p.S206P|VDAC3_ENST00000392935.3_Missense_Mutation_p.S206P			Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	205					adenine transport (GO:0015853)	extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	GATTGAAACATCCATAAACCT	0.398																																						ENST00000392935.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						c.(616-618)Tcc>Ccc		voltage-dependent anion channel 3	Dihydroxyaluminium(DB01375)						196.0	172.0	180.0					8																	42260890		2203	4300	6503	SO:0001583	missense	7419				adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	g.chr8:42260890T>C	AF038962	CCDS6131.1, CCDS47850.1	8p11.21	2011-11-15			ENSG00000078668	ENSG00000078668		"""Voltage-dependent anion channels"""	12674	protein-coding gene	gene with protein product		610029				9653160, 9781040	Standard	NM_001135694		Approved	HD-VDAC3	uc003xpc.3	Q9Y277	OTTHUMG00000164168	ENST00000022615.4:c.613T>C	8.37:g.42260890T>C	ENSP00000022615:p.Ser205Pro		Somatic				VDAC3_ENST00000521158.1_Missense_Mutation_p.S206P|VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000022615.4_Missense_Mutation_p.S205P	p.S206P	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	WXS	Illumina GAIIx	Phase_I	Q9Y277	VDAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		8	759	+	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	205					Q9UIS0	Missense_Mutation	SNP	ENST00000022615.4	37	c.616T>C	CCDS6131.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.441316	0.83993	.	.	ENSG00000078668	ENST00000392935;ENST00000521158;ENST00000022615	T;T;T	0.42900	0.96;0.96;0.96	5.73	5.73	0.89815	.	0.058092	0.64402	D	0.000001	T	0.54255	0.1847	M	0.68952	2.095	0.58432	D	0.999998	D	0.55172	0.97	P	0.52386	0.697	T	0.59300	-0.7480	10	0.87932	D	0	-8.5242	14.2659	0.66118	0.0:0.0:0.0:1.0	.	205	Q9Y277	VDAC3_HUMAN	P	206;206;205	ENSP00000442811:S206P;ENSP00000428845:S206P;ENSP00000022615:S205P	ENSP00000022615:S205P	S	+	1	0	VDAC3	42380047	1.000000	0.71417	0.933000	0.37362	0.979000	0.70002	4.279000	0.58953	2.302000	0.77476	0.533000	0.62120	TCC		0.398	VDAC3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377574.1			7	252	0	0	0	1	0	7	252				
PARP8	79668	broad.mit.edu	37	5	49962953	49962953	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:49962953G>C	ENST00000281631.5	+	1	182	c.24G>C	c.(22-24)gaG>gaC	p.E8D	PARP8_ENST00000513738.1_Missense_Mutation_p.E8D|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.E8D|PARP8_ENST00000503665.1_Missense_Mutation_p.E8D|PARP8_ENST00000503750.2_Missense_Mutation_p.E8D|PARP8_ENST00000505697.2_Missense_Mutation_p.E8D|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000505554.1_5'Flank	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	8						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAAGGCAAGAGCGAATTCAGA	0.517																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(22-24)gaG>gaC		poly (ADP-ribose) polymerase family, member 8							123.0	131.0	128.0					5																	49962953		1368	2329	3697	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:49962953G>C	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.24G>C	5.37:g.49962953G>C	ENSP00000281631:p.Glu8Asp		Somatic				PARP8_ENST00000503665.1_Missense_Mutation_p.E8D|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000513738.1_Missense_Mutation_p.E8D|PARP8_ENST00000514067.2_Missense_Mutation_p.E8D|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.E8D|PARP8_ENST00000503750.2_Missense_Mutation_p.E8D	p.E8D	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	WXS	Illumina GAIIx	Phase_I	Q8N3A8	PARP8_HUMAN			1	182	+		Lung NSC(810;0.0305)|Breast(144;0.222)	8					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.24G>C	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746053	0.30955	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000503888;ENST00000502524;ENST00000515175;ENST00000281631;ENST00000513738;ENST00000503665;ENST00000514067;ENST00000503046;ENST00000503193	.	.	.	4.23	3.35	0.38373	.	0.000000	0.64402	D	0.000001	T	0.48040	0.1478	N	0.08118	0	0.80722	D	1	P;B	0.49696	0.927;0.007	D;B	0.67725	0.953;0.014	T	0.41734	-0.9492	8	.	.	.	-15.5843	11.0701	0.47997	0.0924:0.0:0.9076:0.0	.	8;8	Q8N3A8-2;Q8N3A8	.;PARP8_HUMAN	D	8	.	.	E	+	3	2	PARP8	49998710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.399000	0.59703	0.978000	0.38470	0.556000	0.70494	GAG		0.517	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		4	186	0	0	0	1	0	4	186				
ASPM	259266	broad.mit.edu	37	1	197111787	197111787	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:197111787A>T	ENST00000367409.4	-	3	1851	c.1595T>A	c.(1594-1596)aTa>aAa	p.I532K	ASPM_ENST00000294732.7_Missense_Mutation_p.I532K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	532					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGATTATTTATTACTTTTTC	0.318																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(1594-1596)aTa>aAa		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							127.0	134.0	132.0					1																	197111787		2201	4300	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197111787A>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1595T>A	1.37:g.197111787A>T	ENSP00000356379:p.Ile532Lys		Somatic				ASPM_ENST00000294732.7_Missense_Mutation_p.I532K	p.I532K	NM_018136.4	NP_060606.3	WXS	Illumina GAIIx	Phase_I	Q8IZT6	ASPM_HUMAN			3	1851	-			532					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.1595T>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.562113	0.45590	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.57436	0.4;1.66	4.86	1.23	0.21249	.	1.450460	0.04216	N	0.332719	T	0.37489	0.1005	N	0.19112	0.55	0.09310	N	1	B;B	0.16802	0.019;0.0	B;B	0.14578	0.011;0.0	T	0.31138	-0.9954	10	0.66056	D	0.02	.	4.1549	0.10256	0.5084:0.1761:0.3155:0.0	.	532;532	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	K	532	ENSP00000356379:I532K;ENSP00000294732:I532K	ENSP00000294732:I532K	I	-	2	0	ASPM	195378410	0.001000	0.12720	0.000000	0.03702	0.544000	0.35116	1.239000	0.32719	0.118000	0.18165	0.523000	0.50628	ATA		0.318	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		4	101	0	0	0	1	0	4	101				
PTK2B	2185	broad.mit.edu	37	8	27301762	27301762	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:27301762C>T	ENST00000397501.1	+	28	2996	c.2188C>T	c.(2188-2190)Ctc>Ttc	p.L730F	PTK2B_ENST00000338238.4_Missense_Mutation_p.L730F|PTK2B_ENST00000517339.1_Missense_Mutation_p.L730F|PTK2B_ENST00000420218.2_Missense_Mutation_p.L730F|PTK2B_ENST00000346049.5_Missense_Mutation_p.L730F|PTK2B_ENST00000544172.1_Missense_Mutation_p.L730F|PTK2B_ENST00000397497.4_Missense_Mutation_p.L476F	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	730	Pro-rich.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	GCAAACCAACCTCCTGGCTCC	0.537																																						ENST00000397501.1																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(2188-2190)Ctc>Ttc		protein tyrosine kinase 2 beta							119.0	105.0	110.0					8																	27301762		2203	4300	6503	SO:0001583	missense	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27301762C>T	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2188C>T	8.37:g.27301762C>T	ENSP00000380638:p.Leu730Phe		Somatic				PTK2B_ENST00000517339.1_Missense_Mutation_p.L730F|PTK2B_ENST00000397497.4_Missense_Mutation_p.L476F|PTK2B_ENST00000346049.5_Missense_Mutation_p.L730F|PTK2B_ENST00000338238.4_Missense_Mutation_p.L730F|PTK2B_ENST00000544172.1_Missense_Mutation_p.L730F|PTK2B_ENST00000420218.2_Missense_Mutation_p.L730F	p.L730F	NM_173174.2	NP_775266.1	WXS	Illumina GAIIx	Phase_I	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	28	2996	+		Ovarian(32;2.72e-05)	730			Pro-rich.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	c.2188C>T	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931154	0.34096	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	T;T;T;T;T;T;T	0.75260	-0.88;-0.92;-0.88;-0.88;-0.92;-0.92;-0.91	4.93	4.93	0.64822	.	0.112164	0.64402	D	0.000009	T	0.61337	0.2339	L	0.29908	0.895	0.47037	D	0.999297	B;B;B	0.32467	0.372;0.028;0.004	B;B;B	0.29267	0.1;0.032;0.005	T	0.58781	-0.7576	10	0.16896	T	0.51	.	15.6928	0.77469	0.0:1.0:0.0:0.0	.	476;730;730	E9PBI4;Q14289-2;Q14289	.;.;FAK2_HUMAN	F	730;735;730;730;730;730;730;476	ENSP00000380638:L730F;ENSP00000342242:L730F;ENSP00000440926:L730F;ENSP00000332816:L730F;ENSP00000391995:L730F;ENSP00000427931:L730F;ENSP00000380634:L476F	ENSP00000342242:L730F	L	+	1	0	PTK2B	27357679	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	3.298000	0.51818	2.542000	0.85734	0.655000	0.94253	CTC		0.537	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		15	96	0	0	0	1	0	15	96				
SLC25A11	8402	broad.mit.edu	37	17	4841809	4841809	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:4841809G>A	ENST00000225665.7	-	4	884	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	RNF167_ENST00000571816.1_5'Flank|RNF167_ENST00000262482.6_5'Flank|RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000572430.1_5'Flank|SLC25A11_ENST00000544061.2_Missense_Mutation_p.R131W	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	182					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						CCACTCACCCGCCACAGTGTG	0.602																																					Esophageal Squamous(144;1178 2388 18010 48797)	ENST00000225665.7																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						c.(544-546)Cgg>Tgg		solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11							88.0	101.0	97.0					17																	4841809		2203	4300	6503	SO:0001583	missense	8402				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity	g.chr17:4841809G>A	X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"""Solute carriers"""	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.544C>T	17.37:g.4841809G>A	ENSP00000225665:p.Arg182Trp		Somatic				SLC25A11_ENST00000544061.2_Missense_Mutation_p.R131W	p.R182W	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	WXS	Illumina GAIIx	Phase_I	Q02978	M2OM_HUMAN			4	884	-			182					F5GY65|O75537|Q969P7	Missense_Mutation	SNP	ENST00000225665.7	37	c.544C>T	CCDS11059.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.918039	0.52546	.	.	ENSG00000108528	ENST00000225665;ENST00000544061	D;D	0.82344	-1.6;-1.6	5.74	2.3	0.28687	Mitochondrial carrier domain (2);	0.043342	0.85682	D	0.000000	D	0.94026	0.8086	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94795	0.7965	10	0.87932	D	0	-22.9255	12.6839	0.56936	0.0:0.0:0.2428:0.7572	.	182;182	Q6IBH0;Q02978	.;M2OM_HUMAN	W	182;131	ENSP00000225665:R182W;ENSP00000440804:R131W	ENSP00000225665:R182W	R	-	1	2	SLC25A11	4782554	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	1.699000	0.37804	0.632000	0.30432	0.563000	0.77884	CGG		0.602	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216852.4	NM_003562		3	141	0	0	0	1	0	3	141				
TAS2R3	50831	broad.mit.edu	37	7	141464711	141464711	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:141464711A>T	ENST00000247879.2	+	1	815	c.753A>T	c.(751-753)ttA>ttT	p.L251F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	251					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttgctttcttAATTGCATCAT	0.408																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(751-753)ttA>ttT		taste receptor, type 2, member 3							100.0	92.0	95.0					7																	141464711		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464711A>T	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.753A>T	7.37:g.141464711A>T	ENSP00000247879:p.Leu251Phe		Somatic				SSBP1_ENST00000465582.1_Intron	p.L251F	NM_016943.2	NP_058639.1	WXS	Illumina GAIIx	Phase_I	Q9NYW6	TA2R3_HUMAN			1	815	+	Melanoma(164;0.0171)		251					A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.753A>T	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.542307	0.27563	.	.	ENSG00000127362	ENST00000247879	T	0.41758	0.99	5.41	-5.76	0.02376	.	1.317490	0.05404	N	0.541237	T	0.24624	0.0597	L	0.31157	0.91	0.09310	N	1	B	0.17465	0.022	B	0.17433	0.018	T	0.34950	-0.9808	10	0.72032	D	0.01	.	1.1254	0.01734	0.3389:0.3138:0.1416:0.2056	.	251	Q9NYW6	TA2R3_HUMAN	F	251	ENSP00000247879:L251F	ENSP00000247879:L251F	L	+	3	2	TAS2R3	141111180	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.547000	0.06055	-0.464000	0.06963	-0.472000	0.04984	TTA		0.408	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			8	215	0	0	0	1	0	8	215				
SLC30A9	10463	broad.mit.edu	37	4	42022431	42022431	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:42022431A>T	ENST00000264451.7	+	4	514		c.e4-1			NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9						nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTTTTGTTTAGTTAAAGCAG	0.348																																						ENST00000264451.6																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e4-1		solute carrier family 30 (zinc transporter), member 9							126.0	115.0	119.0					4																	42022431		2203	4299	6502	SO:0001630	splice_region_variant	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:42022431A>T	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.335-1A>T	4.37:g.42022431A>T			Somatic						NM_006345.3	NP_006336.3	WXS	Illumina GAIIx	Phase_I	Q6PML9	ZNT9_HUMAN			4	514	+								Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Splice_Site	SNP	ENST00000264451.7	37		CCDS3465.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592832	0.86953	.	.	ENSG00000014824	ENST00000264451	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4116	0.83717	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC30A9	41717188	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.788000	0.91834	2.276000	0.75962	0.528000	0.53228	.		0.348	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3		Intron	9	92	0	0	0	1	0	9	92				
TRPC5	7224	broad.mit.edu	37	X	111078308	111078308	+	Silent	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:111078308T>A	ENST00000262839.2	-	7	2655	c.1737A>T	c.(1735-1737)gtA>gtT	p.V579V		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	579					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAAGGCCAAATACAGACCAGA	0.388																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1735-1737)gtA>gtT		transient receptor potential cation channel, subfamily C, member 5							222.0	217.0	219.0					X																	111078308		2203	4300	6503	SO:0001819	synonymous_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111078308T>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1737A>T	X.37:g.111078308T>A			Somatic					p.V579V	NM_012471.2	NP_036603.1	WXS	Illumina GAIIx	Phase_I	Q9UL62	TRPC5_HUMAN			7	2655	-			579					B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	ENST00000262839.2	37	c.1737A>T	CCDS14561.1																																																																																				0.388	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		10	1052	0	0	0	1	0	10	1052				
IFT52	51098	broad.mit.edu	37	20	42232398	42232398	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:42232398A>T	ENST00000373030.3	+	4	337		c.e4-1		IFT52_ENST00000373039.4_Splice_Site	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52						cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCCTTTGTGTAGTTTGAAATC	0.328																																						ENST00000373030.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21						c.e4-1		intraflagellar transport 52 homolog (Chlamydomonas)							112.0	112.0	112.0					20																	42232398		2203	4300	6503	SO:0001630	splice_region_variant	51098					intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	g.chr20:42232398A>T	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.208-1A>T	20.37:g.42232398A>T			Somatic				IFT52_ENST00000373039.4_Splice_Site		NM_016004.2	NP_057088.2	WXS	Illumina GAIIx	Phase_I	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		4	337	+		Myeloproliferative disorder(115;0.00452)						B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Splice_Site	SNP	ENST00000373030.3	37		CCDS33470.1	.	.	.	.	.	.	.	.	.	.	A	20.0	3.930406	0.73327	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0702	0.72030	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IFT52	41665812	1.000000	0.71417	0.965000	0.40720	0.932000	0.56968	8.719000	0.91436	2.267000	0.75376	0.528000	0.53228	.		0.328	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004	Intron	5	149	0	0	0	1	0	5	149				
MANEAL	149175	broad.mit.edu	37	1	38260262	38260262	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:38260262G>T	ENST00000373045.6	+	1	789	c.408G>T	c.(406-408)aaG>aaT	p.K136N	MANEAL_ENST00000525897.1_5'Flank|MANEAL_ENST00000329006.5_5'Flank|MANEAL_ENST00000397631.3_Missense_Mutation_p.K136N	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	136						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGGACCCCAAGATCTCGGCCA	0.692																																						ENST00000373045.6																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7						c.(406-408)aaG>aaT		mannosidase, endo-alpha-like							12.0	14.0	14.0					1																	38260262		1724	3821	5545	SO:0001583	missense	149175					Golgi membrane|integral to membrane	hydrolase activity	g.chr1:38260262G>T	AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.408G>T	1.37:g.38260262G>T	ENSP00000362136:p.Lys136Asn		Somatic				MANEAL_ENST00000397631.3_Missense_Mutation_p.K136N	p.K136N	NM_001113482.1	NP_001106954.1	WXS	Illumina GAIIx	Phase_I	Q5VSG8	MANEL_HUMAN			1	789	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	136					Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Missense_Mutation	SNP	ENST00000373045.6	37	c.408G>T	CCDS44110.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980471	0.34942	.	.	ENSG00000185090	ENST00000373045;ENST00000397631;ENST00000532512	.	.	.	3.85	1.7	0.24286	.	0.052163	0.85682	D	0.000000	T	0.51210	0.1661	L	0.47190	1.495	0.80722	D	1	B;D	0.58268	0.216;0.982	B;P	0.53549	0.108;0.729	T	0.42832	-0.9428	9	0.24483	T	0.36	-17.6717	9.3529	0.38149	0.2239:0.0:0.7761:0.0	.	136;136	Q5VSG8;Q5VSG8-3	MANEL_HUMAN;.	N	136;136;36	.	ENSP00000362136:K136N	K	+	3	2	MANEAL	38032849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.428000	0.34892	0.825000	0.34637	0.478000	0.44815	AAG		0.692	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012469.2	NM_152496		3	9	1	0	2.56e-06	1	2.67868e-06	3	9				
HS6ST2	90161	broad.mit.edu	37	X	131762617	131762617	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:131762617A>G	ENST00000370836.2	-	4	1867	c.1452T>C	c.(1450-1452)gaT>gaC	p.D484D	HS6ST2_ENST00000521489.1_Silent_p.D524D|HS6ST2_ENST00000370833.2_Silent_p.D378D|HS6ST2_ENST00000406696.3_Silent_p.D210D	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	484					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ACAACTCCATATCCAGAAAAT	0.428																																						ENST00000370836.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9						c.(1450-1452)gaT>gaC		heparan sulfate 6-O-sulfotransferase 2							186.0	177.0	180.0					X																	131762617		1895	4105	6000	SO:0001819	synonymous_variant	90161					integral to membrane	sulfotransferase activity	g.chrX:131762617A>G	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1452T>C	X.37:g.131762617A>G			Somatic				HS6ST2_ENST00000370837.1_Silent_p.D338D|HS6ST2_ENST00000521489.1_Silent_p.D524D|HS6ST2_ENST00000370833.2_Silent_p.D378D|HS6ST2_ENST00000406696.3_Silent_p.D210D	p.D484D	NM_147175.3	NP_671704.3	WXS	Illumina GAIIx	Phase_I	Q96MM7	H6ST2_HUMAN			4	1867	-	Acute lymphoblastic leukemia(192;0.000127)		484					B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Silent	SNP	ENST00000370836.2	37	c.1452T>C	CCDS48169.1																																																																																				0.428	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174		6	563	0	0	0	1	0	6	563				
USP3	9960	broad.mit.edu	37	15	63824841	63824841	+	Intron	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:63824841A>T	ENST00000380324.3	+	2	220				USP3_ENST00000558285.1_Missense_Mutation_p.L12F|USP3_ENST00000536001.1_Intron|USP3_ENST00000268049.7_Intron|USP3_ENST00000539772.1_Intron|USP3_ENST00000540797.1_Intron	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3						DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		TTTTCTTTTTATTAGTGTGCC	0.368																																						ENST00000558285.1																			0				endometrium(3)|large_intestine(7)|lung(4)	14						c.(34-36)ttA>ttT		ubiquitin specific peptidase 3							177.0	164.0	168.0					15																	63824841		2203	4300	6503	SO:0001627	intron_variant	9960				DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr15:63824841A>T	AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.92-5A>T	15.37:g.63824841A>T			Somatic				USP3_ENST00000539772.1_Intron|USP3_ENST00000380324.3_Intron|USP3_ENST00000536001.1_Intron|USP3_ENST00000540797.1_Intron|USP3_ENST00000268049.7_Intron	p.L12F			WXS	Illumina GAIIx	Phase_I	Q9Y6I4	UBP3_HUMAN		GBM - Glioblastoma multiforme(80;0.0187)	1	137	+			0					B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	ENST00000380324.3	37	c.36A>T	CCDS32265.1																																																																																				0.368	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1			5	163	0	0	0	1	0	5	163				
TGIF1	7050	broad.mit.edu	37	18	3457635	3457635	+	Silent	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr18:3457635G>T	ENST00000330513.5	+	3	1206	c.903G>T	c.(901-903)gtG>gtT	p.V301V	TGIF1_ENST00000407501.2_Silent_p.V172V|TGIF1_ENST00000472042.1_Silent_p.V152V|TGIF1_ENST00000548489.2_Silent_p.V186V|TGIF1_ENST00000343820.5_Silent_p.V172V|TGIF1_ENST00000345133.5_Silent_p.V152V|TGIF1_ENST00000551541.1_Silent_p.V152V|TGIF1_ENST00000400167.2_Silent_p.V152V|TGIF1_ENST00000401449.1_Silent_p.V152V|TGIF1_ENST00000405385.3_Silent_p.V152V	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	301					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GTCCATCAGTGATCTGCCATA	0.537																																						ENST00000472042.1																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(454-456)gtG>gtT		TGFB-induced factor homeobox 1							71.0	62.0	65.0					18																	3457635		2203	4300	6503	SO:0001819	synonymous_variant	7050				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr18:3457635G>T	X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"""Homeoboxes / TALE class"""	11776	protein-coding gene	gene with protein product		602630	"""TGFB-induced factor (TALE family homeobox)"""	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.903G>T	18.37:g.3457635G>T			Somatic				TGIF1_ENST00000400167.2_Silent_p.V152V|TGIF1_ENST00000345133.5_Silent_p.V152V|TGIF1_ENST00000343820.5_Silent_p.V172V|TGIF1_ENST00000407501.2_Silent_p.V172V|TGIF1_ENST00000551541.1_Silent_p.V152V|TGIF1_ENST00000330513.5_Silent_p.V301V|TGIF1_ENST00000548489.2_Silent_p.V186V|TGIF1_ENST00000401449.1_Silent_p.V152V|TGIF1_ENST00000405385.3_Silent_p.V152V	p.V152V			WXS	Illumina GAIIx	Phase_I	Q15583	TGIF1_HUMAN			2	1440	+	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)	301					A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Silent	SNP	ENST00000330513.5	37	c.456G>T	CCDS11834.1																																																																																				0.537	TGIF1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254368.4	NM_170695		9	87	1	0	1.58986e-06	1	1.66909e-06	9	87				
RSL1D1	26156	broad.mit.edu	37	16	11935564	11935564	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:11935564A>T	ENST00000571133.1	-	7	915	c.843T>A	c.(841-843)aaT>aaA	p.N281K	RSL1D1_ENST00000542106.1_Missense_Mutation_p.N61K	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	281					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTTTCTTCTTATTAAGCAAAG	0.383																																						ENST00000571133.1																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						c.(841-843)aaT>aaA		ribosomal L1 domain containing 1							53.0	55.0	54.0					16																	11935564		2197	4300	6497	SO:0001583	missense	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11935564A>T	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.843T>A	16.37:g.11935564A>T	ENSP00000460871:p.Asn281Lys		Somatic				RSL1D1_ENST00000542106.1_Missense_Mutation_p.N61K	p.N281K	NM_015659.2	NP_056474.2	WXS	Illumina GAIIx	Phase_I	O76021	RL1D1_HUMAN			7	915	-			281					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Missense_Mutation	SNP	ENST00000571133.1	37	c.843T>A	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	A	0.981	-0.697172	0.03279	.	.	ENSG00000171490	ENST00000355674;ENST00000396503;ENST00000542106	T	0.41065	1.01	4.72	-9.44	0.00603	.	3.319120	0.00998	N	0.003628	T	0.18045	0.0433	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.38045	-0.9679	10	0.06099	T	0.92	12.8272	0.7955	0.01065	0.169:0.2047:0.2225:0.4037	.	281;281	Q32Q62;O76021	.;RL1D1_HUMAN	K	280;281;61	ENSP00000347897:N280K	ENSP00000347897:N280K	N	-	3	2	RSL1D1	11843065	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.582000	0.00424	-2.522000	0.00497	-0.619000	0.04042	AAT		0.383	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659		4	54	0	0	0	1	0	4	54				
SCN3A	6328	broad.mit.edu	37	2	165946662	165946662	+	Nonstop_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:165946662A>T	ENST00000360093.3	-	28	6492	c.6001T>A	c.(6001-6003)Taa>Aaa	p.*2001K	AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Nonstop_Mutation_p.*2001K|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000409101.3_Nonstop_Mutation_p.*1952K|SCN3A_ENST00000540861.1_Nonstop_Mutation_p.*484K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	0					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTTCTTTTTACTTTTGATTT	0.348																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(6001-6003)Taa>Aaa		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						53.0	52.0	52.0					2																	165946662		2201	4296	6497	SO:0001578	stop_lost	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165946662A>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.6001T>A	2.37:g.165946662A>T			Somatic				SCN3A_ENST00000409101.3_Nonstop_Mutation_p.*1952K|SCN3A_ENST00000540861.1_Nonstop_Mutation_p.*484K|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Nonstop_Mutation_p.*2001K	p.*2001K	NM_001081677.1	NP_001075146.1	WXS	Illumina GAIIx	Phase_I	Q9NY46	SCN3A_HUMAN			28	6492	-			0					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Nonstop_Mutation	SNP	ENST00000360093.3	37	c.6001T>A		.	.	.	.	.	.	.	.	.	.	A	15.06	2.721842	0.48728	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1292	0.72507	1.0:0.0:0.0:0.0	.	.	.	.	K	2001;2001;1952;484	.	.	X	-	1	0	SCN3A	165654908	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.401000	0.66326	2.308000	0.77769	0.533000	0.62120	TAA		0.348	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		3	9	0	0	0	1	0	3	9				
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189.0	199.0	196.0					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg		Somatic				CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R	p.S228R			WXS	Illumina GAIIx	Phase_I	C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		4	452	0	0	0	1	0	4	452				
GRIN2A	2903	broad.mit.edu	37	16	9858170	9858170	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:9858170A>T	ENST00000396573.2	-	14	3540	c.3231T>A	c.(3229-3231)agT>agA	p.S1077R	GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1077R|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1077R|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S920R|GRIN2A_ENST00000562109.1_Missense_Mutation_p.S1077R|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S1077R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1077					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)	TGTGGTTCTTACTGTTGTCAG	0.488																																						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.(3229-3231)agT>agA		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						127.0	118.0	121.0					16																	9858170		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858170A>T		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.3231T>A	16.37:g.9858170A>T	ENSP00000379818:p.Ser1077Arg		Somatic				GRIN2A_ENST00000404927.2_Missense_Mutation_p.S1077R|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1077R|GRIN2A_ENST00000562109.1_Missense_Mutation_p.S1077R|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S920R|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1077R	p.S1077R	NM_000833.3	NP_000824.1	WXS	Illumina GAIIx	Phase_I	Q12879	NMDE1_HUMAN			14	3540	-			1077					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3231T>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.645479	0.29246	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.10960	2.83;2.82;2.82;2.83;2.83	5.04	0.0374	0.14196	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.335783	0.37261	N	0.002173	T	0.06096	0.0158	N	0.19112	0.55	0.27435	N	0.953897	B;B;B	0.14012	0.0;0.0;0.009	B;B;B	0.15484	0.001;0.003;0.013	T	0.38542	-0.9656	9	.	.	.	.	10.2466	0.43345	0.606:0.0:0.394:0.0	.	920;1077;1077	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	R	1077;1077;920;1077;1077	ENSP00000379818:S1077R;ENSP00000385872:S1077R;ENSP00000441572:S920R;ENSP00000332549:S1077R;ENSP00000379820:S1077R	.	S	-	3	2	GRIN2A	9765671	0.997000	0.39634	0.976000	0.42696	0.992000	0.81027	0.822000	0.27352	-0.017000	0.14103	0.533000	0.62120	AGT		0.488	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			8	345	0	0	0	1	0	8	345				
DGKG	1608	broad.mit.edu	37	3	185906162	185906162	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:185906162C>T	ENST00000265022.3	-	22	2463	c.1924G>A	c.(1924-1926)Ggg>Agg	p.G642R	DGKG_ENST00000544847.1_Missense_Mutation_p.G583R|DGKG_ENST00000344484.4_Missense_Mutation_p.G617R|DGKG_ENST00000382164.4_Missense_Mutation_p.G603R	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	642					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ACCCCAACCCCATCACACTGG	0.527																																						ENST00000265022.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(1924-1926)Ggg>Agg		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						108.0	86.0	93.0					3																	185906162		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185906162C>T	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1924G>A	3.37:g.185906162C>T	ENSP00000265022:p.Gly642Arg		Somatic				DGKG_ENST00000344484.4_Missense_Mutation_p.G617R|DGKG_ENST00000382164.4_Missense_Mutation_p.G603R|DGKG_ENST00000544847.1_Missense_Mutation_p.G583R	p.G642R	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	WXS	Illumina GAIIx	Phase_I	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	22	2463	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		642					B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.1924G>A	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.510935	0.85389	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847	T;T;T;T	0.55588	0.52;0.51;0.52;0.52	4.44	4.44	0.53790	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.81555	0.4847	H	0.96943	3.91	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.996;0.998;0.999	D	0.88317	0.2960	10	0.87932	D	0	.	16.0055	0.80359	0.0:1.0:0.0:0.0	.	583;617;603;642	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	R	642;617;603;583	ENSP00000265022:G642R;ENSP00000339777:G617R;ENSP00000371599:G603R;ENSP00000440507:G583R	ENSP00000265022:G642R	G	-	1	0	DGKG	187388856	1.000000	0.71417	0.882000	0.34594	0.955000	0.61496	7.408000	0.80041	2.307000	0.77673	0.313000	0.20887	GGG		0.527	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			5	501	0	0	0	1	0	5	501				
PREP	5550	broad.mit.edu	37	6	105800954	105800954	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:105800954T>A	ENST00000369110.3	-	7	910		c.e7-2			NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ATCAGATAACTAAAAAAGAAA	0.343																																						ENST00000369110.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.e7-2		prolyl endopeptidase	Oxytocin(DB00107)						79.0	86.0	84.0					6																	105800954		2203	4300	6503	SO:0001630	splice_region_variant	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105800954T>A		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.718-2A>T	6.37:g.105800954T>A			Somatic						NM_002726.4	NP_002717.3	WXS	Illumina GAIIx	Phase_I	P48147	PPCE_HUMAN			7	910	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)						Q8N6D4	Splice_Site	SNP	ENST00000369110.3	37		CCDS5053.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404919	0.62288	.	.	ENSG00000085377	ENST00000369110	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9901	0.71381	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PREP	105907647	1.000000	0.71417	0.960000	0.40013	0.657000	0.38888	4.794000	0.62482	2.240000	0.73641	0.533000	0.62120	.		0.343	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1		Intron	7	103	0	0	0	1	0	7	103				
ADH6	130	broad.mit.edu	37	4	100137322	100137322	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:100137322A>T	ENST00000237653.7	-	2	500	c.116T>A	c.(115-117)aTa>aAa	p.I39K	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_5'UTR|ADH6_ENST00000394897.1_Missense_Mutation_p.I39K|ADH6_ENST00000394899.2_Missense_Mutation_p.I39K|RP11-696N14.1_ENST00000506454.1_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	39					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	ttttACCTTTATGCGAACTTC	0.393																																						ENST00000394897.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20						c.(115-117)aTa>aAa		alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)|NADH(DB00157)						47.0	50.0	49.0					4																	100137322		2203	4300	6503	SO:0001583	missense	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100137322A>T	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.116T>A	4.37:g.100137322A>T	ENSP00000237653:p.Ile39Lys		Somatic				ADH6_ENST00000237653.7_Missense_Mutation_p.I39K|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_5'UTR|ADH6_ENST00000394899.2_Missense_Mutation_p.I39K	p.I39K			WXS	Illumina GAIIx	Phase_I	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	2	198	-			39					B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	c.116T>A	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.166985	0.57476	.	.	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000237653;ENST00000508558	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	3.43	3.43	0.39272	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.051702	0.85682	D	0.000000	T	0.43188	0.1236	H	0.95043	3.615	0.80722	D	1	P;P;P	0.48089	0.905;0.774;0.875	D;P;P	0.70016	0.967;0.771;0.813	T	0.56613	-0.7950	10	0.87932	D	0	-11.0733	11.9069	0.52717	1.0:0.0:0.0:0.0	.	39;39;39	E9PBI1;P28332;P28332-2	.;ADH6_HUMAN;.	K	39	ENSP00000378358:I39K;ENSP00000378359:I39K;ENSP00000237653:I39K;ENSP00000426187:I39K	ENSP00000237653:I39K	I	-	2	0	ADH6	100356345	0.847000	0.29606	0.061000	0.19648	0.481000	0.33189	7.692000	0.84203	1.328000	0.45358	0.165000	0.16767	ATA		0.393	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		4	74	0	0	0	1	0	4	74				
DHX32	55760	broad.mit.edu	37	10	127527580	127527580	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:127527580T>A	ENST00000284690.3	-	9	2361	c.1871A>T	c.(1870-1872)tAc>tTc	p.Y624F	BCCIP_ENST00000299130.3_Intron|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.Y543F|DHX32_ENST00000368721.1_Missense_Mutation_p.Y248F	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	624						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTGCATAAAGTAACCGGACAG	0.448																																						ENST00000284690.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29						c.(1870-1872)tAc>tTc		DEAH (Asp-Glu-Ala-His) box polypeptide 32							233.0	233.0	233.0					10																	127527580		2203	4300	6503	SO:0001583	missense	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127527580T>A		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1871A>T	10.37:g.127527580T>A	ENSP00000284690:p.Tyr624Phe		Somatic				DHX32_ENST00000284688.6_Missense_Mutation_p.Y543F|BCCIP_ENST00000368759.5_Intron|BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.Y248F|BCCIP_ENST00000429863.2_Intron	p.Y624F	NM_018180.2	NP_060650.2	WXS	Illumina GAIIx	Phase_I	Q7L7V1	DHX32_HUMAN			9	2361	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	624					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	c.1871A>T	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	T	4.102	0.017048	0.07959	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.14391	2.51;4.21;3.95	5.02	3.87	0.44632	Domain of unknown function DUF1605 (1);	0.196758	0.46145	N	0.000313	T	0.07638	0.0192	N	0.05351	-0.065	0.47276	D	0.999379	B	0.06786	0.001	B	0.06405	0.002	T	0.15407	-1.0438	10	0.87932	D	0	-19.4958	10.4925	0.44758	0.1453:0.0:0.0:0.8547	.	624	Q7L7V1	DHX32_HUMAN	F	248;624;543	ENSP00000357710:Y248F;ENSP00000284690:Y624F;ENSP00000284688:Y543F	ENSP00000284688:Y543F	Y	-	2	0	DHX32	127517570	1.000000	0.71417	0.955000	0.39395	0.910000	0.53928	3.095000	0.50235	0.897000	0.36392	0.533000	0.62120	TAC		0.448	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		6	771	0	0	0	1	0	6	771				
MED6	10001	broad.mit.edu	37	14	71067337	71067337	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:71067337G>A	ENST00000256379.5	-	1	47	c.18C>T	c.(16-18)atC>atT	p.I6I	MED6_ENST00000430055.2_Silent_p.I6I|CTD-2540L5.5_ENST00000553982.1_lincRNA|MED6_ENST00000554963.1_Silent_p.I6I|MED6_ENST00000556044.1_5'UTR|MED6_ENST00000440435.2_Silent_p.I6I	NM_001284209.1|NM_005466.2	NP_001271138.1|NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	6					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		GTATACCTCGGATATCCACCG	0.483																																						ENST00000256379.5																			0				large_intestine(2)|lung(2)|skin(1)	5						c.(16-18)atC>atT		mediator complex subunit 6							51.0	49.0	50.0					14																	71067337		2203	4299	6502	SO:0001819	synonymous_variant	10001				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity	g.chr14:71067337G>A	BC004106	CCDS9805.1, CCDS61483.1, CCDS61484.1, CCDS73649.1	14q24.1	2013-02-28	2007-07-30		ENSG00000133997	ENSG00000133997			19970	protein-coding gene	gene with protein product		602984	"""mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae)"""			9234719, 9671713	Standard	NM_001284209		Approved	NY-REN-28	uc001xmf.3	O75586	OTTHUMG00000171252	ENST00000256379.5:c.18C>T	14.37:g.71067337G>A			Somatic				MED6_ENST00000556044.1_5'UTR|MED6_ENST00000554963.1_Silent_p.I6I|MED6_ENST00000430055.2_Silent_p.I6I|MED6_ENST00000440435.2_Silent_p.I6I|CTD-2540L5.5_ENST00000553982.1_lincRNA	p.I6I	NM_005466.2	NP_005457.2	WXS	Illumina GAIIx	Phase_I	O75586	MED6_HUMAN		all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)	1	47	-			6					B4DU17|B4E2P0|O15401|Q53FE3|Q53HJ3|Q6FHQ4|Q9BTH1|Q9UHL1	Silent	SNP	ENST00000256379.5	37	c.18C>T	CCDS9805.1																																																																																				0.483	MED6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412560.2	NM_005466		5	10	0	0	0	1	0	5	10				
NUPL2	11097	broad.mit.edu	37	7	23240270	23240270	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:23240270T>A	ENST00000258742.5	+	7	1437	c.1178T>A	c.(1177-1179)cTa>cAa	p.L393Q		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	393	Interaction with GLE1.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGAGATAAACTAACAGTAGAA	0.388																																						ENST00000258742.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1177-1179)cTa>cAa		nucleoporin like 2							88.0	91.0	90.0					7																	23240270		2203	4300	6503	SO:0001583	missense	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23240270T>A	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.1178T>A	7.37:g.23240270T>A	ENSP00000258742:p.Leu393Gln		Somatic					p.L393Q	NM_007342.2	NP_031368.1	WXS	Illumina GAIIx	Phase_I	O15504	NUPL2_HUMAN			7	1437	+			393			Interaction with GLE1.		A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	c.1178T>A	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.054480	0.75960	.	.	ENSG00000136243	ENST00000258742;ENST00000413919	T;T	0.71103	-0.18;-0.54	5.82	5.82	0.92795	.	0.069408	0.64402	D	0.000017	D	0.84397	0.5463	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86396	0.1739	10	0.87932	D	0	-13.6248	15.849	0.78912	0.0:0.0:0.0:1.0	.	393	O15504	NUPL2_HUMAN	Q	393;418	ENSP00000258742:L393Q;ENSP00000401475:L418Q	ENSP00000258742:L393Q	L	+	2	0	NUPL2	23206795	0.977000	0.34250	0.995000	0.50966	0.904000	0.53231	5.858000	0.69532	2.225000	0.72522	0.533000	0.62120	CTA		0.388	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		10	365	0	0	0	1	0	10	365				
RPE65	6121	broad.mit.edu	37	1	68906539	68906539	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:68906539C>A	ENST00000262340.5	-	6	693	c.640G>T	c.(640-642)Gca>Tca	p.A214S		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	214					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AACTCACCTGCTTGCAGTGGT	0.348																																						ENST00000262340.5																			0				central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						c.(640-642)Gca>Tca		retinal pigment epithelium-specific protein 65kDa							84.0	87.0	86.0					1																	68906539		2203	4300	6503	SO:0001583	missense	6121				visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	g.chr1:68906539C>A	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.640G>T	1.37:g.68906539C>A	ENSP00000262340:p.Ala214Ser		Somatic					p.A214S	NM_000329.2	NP_000320.1	WXS	Illumina GAIIx	Phase_I	Q16518	RPE65_HUMAN			6	693	-			214					A8K1L0|Q5T9U3	Missense_Mutation	SNP	ENST00000262340.5	37	c.640G>T	CCDS643.1	.	.	.	.	.	.	.	.	.	.	C	8.879	0.951215	0.18431	.	.	ENSG00000116745	ENST00000262340	D	0.95342	-3.68	4.71	4.71	0.59529	.	0.097154	0.64402	D	0.000001	D	0.86306	0.5901	L	0.39898	1.24	0.43835	D	0.996417	B	0.02656	0.0	B	0.04013	0.001	T	0.83281	-0.0038	10	0.09084	T	0.74	.	18.5396	0.91023	0.0:1.0:0.0:0.0	.	214	Q16518	RPE65_HUMAN	S	214	ENSP00000262340:A214S	ENSP00000262340:A214S	A	-	1	0	RPE65	68679127	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.868000	0.39509	2.542000	0.85734	0.591000	0.81541	GCA		0.348	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329		21	116	1	0	2.27525e-19	1	2.45386e-19	21	116				
CMC4	100272147	broad.mit.edu	37	X	154292310	154292310	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:154292310T>A	ENST00000369484.3	-	2	669		c.e2-2		CMC4_ENST00000369479.1_Splice_Site|MTCP1_ENST00000482244.1_5'Flank|MTCP1_ENST00000369476.3_3'UTR	NM_001018024.2	NP_001018024.1	P56277	CMC4_HUMAN	C-x(9)-C motif containing 4						cell proliferation (GO:0008283)	mitochondrion (GO:0005739)											TCCAGAAAACTAAAACAAGAA	0.338																																						ENST00000369484.3																			0											c.e2-2		C-x(9)-C motif containing 4							69.0	76.0	74.0					X																	154292310		2203	4299	6502	SO:0001630	splice_region_variant	100272147							g.chrX:154292310T>A		CCDS14764.1	Xq28	2013-10-18	2013-10-18	2012-10-15	ENSG00000182712	ENSG00000182712			35428	protein-coding gene	gene with protein product	"""mature T-cell proliferation 1, isoform p8"""		"""mature T-cell proliferation 1 neighbor"", ""C-x(9)-C motif containing 4 homolog (S. cerevisiae)"""	MTCP1, MTCP1NB		8361760, 9405159, 20922212	Standard	NM_001018024		Approved	P8MTCP1, p8	uc004fmy.3	P56277	OTTHUMG00000158504	ENST00000369484.3:c.10-2A>T	X.37:g.154292310T>A			Somatic				CMC4_ENST00000369479.1_Splice_Site|MTCP1_ENST00000369476.3_3'UTR		NM_001018024.2	NP_001018024.1	WXS	Illumina GAIIx	Phase_I					2	669	-								Q5HYP9	Splice_Site	SNP	ENST00000369484.3	37		CCDS14764.1																																																																																				0.338	CMC4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000037822.2	NM_001018024.2	Intron	4	71	0	0	0	1	0	4	71				
OR2M7	391196	broad.mit.edu	37	1	248487519	248487519	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:248487519T>A	ENST00000317965.2	-	1	380	c.352A>T	c.(352-354)Atg>Ttg	p.M118L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|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;0.0265)			TCATAAGACATAACAGCCAAC	0.448																																						ENST00000317965.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(352-354)Atg>Ttg		olfactory receptor, family 2, subfamily M, member 7							225.0	227.0	226.0					1																	248487519		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487519T>A	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.352A>T	1.37:g.248487519T>A	ENSP00000324557:p.Met118Leu		Somatic					p.M118L	NM_001004691.1	NP_001004691.1	WXS	Illumina GAIIx	Phase_I	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	380	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		118					B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.352A>T	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.134304	0.37630	.	.	ENSG00000177186	ENST00000317965	T	0.00892	5.57	1.54	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38897	U	0.001530	T	0.03305	0.0096	H	0.97732	4.065	0.28014	N	0.934801	B	0.17038	0.02	B	0.17979	0.02	T	0.08827	-1.0703	10	0.87932	D	0	.	8.6678	0.34132	0.0:0.0:0.0:1.0	.	118	Q8NG81	OR2M7_HUMAN	L	118	ENSP00000324557:M118L	ENSP00000324557:M118L	M	-	1	0	OR2M7	246554142	1.000000	0.71417	0.079000	0.20413	0.099000	0.18886	6.085000	0.71343	0.703000	0.31848	0.155000	0.16302	ATG		0.448	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		7	583	0	0	0	1	0	7	583				
SLC25A17	10478	broad.mit.edu	37	22	41190586	41190586	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:41190586T>A	ENST00000435456.2	-	3	249		c.e3-2		SLC25A17_ENST00000544408.1_Splice_Site|SLC25A17_ENST00000542412.1_Intron|SLC25A17_ENST00000491545.1_Splice_Site	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17						ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724)			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TCTCATCAACTACAAGACCAA	0.383																																						ENST00000435456.2																			0				central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						c.e3-2		solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17							124.0	97.0	106.0					22																	41190586		2203	4300	6503	SO:0001630	splice_region_variant	10478				fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding	g.chr22:41190586T>A	Y12860	CCDS14005.1, CCDS74868.1	22q13.2	2013-05-22	2002-08-29		ENSG00000100372	ENSG00000100372		"""Solute carriers"""	10987	protein-coding gene	gene with protein product	"""peroxisomal membrane protein (34kD)"""	606795	"""solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17"""			9874197	Standard	NM_006358		Approved	PMP34	uc003azc.3	O43808	OTTHUMG00000151139	ENST00000435456.2:c.116-2A>T	22.37:g.41190586T>A			Somatic				SLC25A17_ENST00000544408.1_Splice_Site|SLC25A17_ENST00000542412.1_Intron|SLC25A17_ENST00000491545.1_Splice_Site		NM_006358.2	NP_006349.1	WXS	Illumina GAIIx	Phase_I	O43808	PM34_HUMAN			3	249	-								A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	Splice_Site	SNP	ENST00000435456.2	37		CCDS14005.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516712	0.64634	.	.	ENSG00000100372	ENST00000435456;ENST00000544408;ENST00000434185	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3384	0.55081	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC25A17	39520532	1.000000	0.71417	0.987000	0.45799	0.904000	0.53231	5.091000	0.64505	2.162000	0.67917	0.455000	0.32223	.		0.383	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321487.1	NM_006358	Intron	6	152	0	0	0	1	0	6	152				
SIRPA	140885	broad.mit.edu	37	20	1902301	1902301	+	Missense_Mutation	SNP	G	G	A	rs199733185		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:1902301G>A	ENST00000358771.4	+	3	849	c.697G>A	c.(697-699)Gtc>Atc	p.V233I	SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I|SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	233	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V233I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGTGGCCCACGTCACCTTGCA	0.617																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			1	Substitution - Missense(1)	p.V233I(1)	lung(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(697-699)Gtc>Atc		signal-regulatory protein alpha							67.0	60.0	62.0					20																	1902301		2203	4296	6499	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902301G>A	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.697G>A	20.37:g.1902301G>A	ENSP00000351621:p.Val233Ile		Somatic				SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I|SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I	p.V233I	NM_001040023.1	NP_001035112.1	WXS	Illumina GAIIx	Phase_I	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	849	+			233			Ig-like C1-type 1.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.697G>A	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382458	0.24944	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02863	4.13;4.13;4.13	4.86	-7.7	0.01259	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	2.216010	0.01765	N	0.030825	T	0.02727	0.0082	L	0.27053	0.805	0.09310	N	1	B;B;B	0.14805	0.002;0.011;0.008	B;B;B	0.12156	0.002;0.007;0.006	T	0.30765	-0.9967	10	0.20519	T	0.43	.	13.8982	0.63785	0.7446:0.0:0.2554:0.0	.	213;233;233	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	I	233	ENSP00000382941:V233I;ENSP00000348307:V233I;ENSP00000351621:V233I	ENSP00000348307:V233I	V	+	1	0	SIRPA	1850301	0.000000	0.05858	0.000000	0.03702	0.766000	0.43426	-2.041000	0.01415	-1.573000	0.01659	-0.355000	0.07637	GTC		0.617	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		5	145	0	0	0	1	0	5	145				
CYLC2	1539	broad.mit.edu	37	9	105767314	105767314	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:105767314T>A	ENST00000374798.3	+	5	471	c.401T>A	c.(400-402)tTa>tAa	p.L134*	CYLC2_ENST00000487798.1_Nonsense_Mutation_p.L134*	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	134	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GAATCAGAATTAaaacaagga	0.318																																						ENST00000374798.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.(400-402)tTa>tAa		cylicin, basic protein of sperm head cytoskeleton 2							49.0	48.0	48.0					9																	105767314		2200	4294	6494	SO:0001587	stop_gained	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767314T>A	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.401T>A	9.37:g.105767314T>A	ENSP00000420256:p.Leu134*		Somatic				CYLC2_ENST00000487798.1_Nonsense_Mutation_p.L134*	p.L134*	NM_001340.3	NP_001331.1	WXS	Illumina GAIIx	Phase_I	Q14093	CYLC2_HUMAN			5	471	+		all_hematologic(171;0.125)	134			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Nonsense_Mutation	SNP	ENST00000374798.3	37	c.401T>A	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.484248	0.44147	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	.	.	.	3.12	-1.94	0.07571	.	8.112730	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	19.1945	3.0459	0.06153	0.4765:0.264:0.0:0.2595	.	.	.	.	X	134	.	ENSP00000420256:L134X	L	+	2	0	CYLC2	104807135	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	-2.877000	0.00717	-0.429000	0.07329	-0.462000	0.05337	TTA		0.318	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		4	40	0	0	0	1	0	4	40				
TRPC5	7224	broad.mit.edu	37	X	111020091	111020091	+	Missense_Mutation	SNP	C	C	T	rs374332395		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:111020091C>T	ENST00000262839.2	-	11	3290	c.2372G>A	c.(2371-2373)cGg>cAg	p.R791Q		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	791					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGATTTGGCCCGAGCCCCACC	0.483																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2371-2373)cGg>cAg		transient receptor potential cation channel, subfamily C, member 5		C	GLN/ARG	1,3834		0,1,1631,571	131.0	137.0	135.0		2372	4.7	1.0	X		135	0,6728		0,0,2428,1872	no	missense	TRPC5	NM_012471.2	43	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	benign	791/974	111020091	1,10562	2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111020091C>T	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2372G>A	X.37:g.111020091C>T	ENSP00000262839:p.Arg791Gln		Somatic					p.R791Q	NM_012471.2	NP_036603.1	WXS	Illumina GAIIx	Phase_I	Q9UL62	TRPC5_HUMAN			11	3290	-			791					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.2372G>A	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250780	0.39797	2.61E-4	0.0	ENSG00000072315	ENST00000262839	T	0.70516	-0.49	5.71	4.67	0.58626	.	0.436235	0.22314	N	0.061684	T	0.49592	0.1566	N	0.14661	0.345	0.32495	N	0.539638	B	0.14805	0.011	B	0.08055	0.003	T	0.53194	-0.8473	10	0.32370	T	0.25	-14.6117	7.5944	0.28039	0.0:0.6952:0.1677:0.1371	.	791	Q9UL62	TRPC5_HUMAN	Q	791	ENSP00000262839:R791Q	ENSP00000262839:R791Q	R	-	2	0	TRPC5	110906747	0.925000	0.31364	1.000000	0.80357	0.990000	0.78478	1.233000	0.32648	2.404000	0.81709	0.600000	0.82982	CGG		0.483	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		4	601	0	0	0	1	0	4	601				
CHRNA6	8973	broad.mit.edu	37	8	42611947	42611947	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:42611947A>T	ENST00000276410.2	-	5	750	c.395T>A	c.(394-396)gTa>gAa	p.V132E	CHRNA6_ENST00000534622.1_Missense_Mutation_p.V117E|CHRNA6_ENST00000530869.1_5'Flank	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	132					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	TTTGCCTTCTACTTGGAAGTC	0.428																																						ENST00000276410.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22						c.(394-396)gTa>gAa		cholinergic receptor, nicotinic, alpha 6 (neuronal)							168.0	168.0	168.0					8																	42611947		2203	4300	6503	SO:0001583	missense	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42611947A>T	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.395T>A	8.37:g.42611947A>T	ENSP00000276410:p.Val132Glu		Somatic				CHRNA6_ENST00000534622.1_Missense_Mutation_p.V117E	p.V132E	NM_004198.3	NP_004189.1	WXS	Illumina GAIIx	Phase_I	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	750	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	132					B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	37	c.395T>A	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	A	17.86	3.493468	0.64186	.	.	ENSG00000147434	ENST00000276410;ENST00000534622;ENST00000533810	T;T;T	0.79940	-1.32;-1.32;-1.32	5.97	5.97	0.96955	Neurotransmitter-gated ion-channel ligand-binding (3);	0.110720	0.64402	D	0.000008	D	0.87525	0.6199	M	0.61703	1.905	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.995	D	0.88504	0.3084	10	0.87932	D	0	.	12.6464	0.56738	0.8249:0.1751:0.0:0.0	.	117;132	B4DQH1;Q15825	.;ACHA6_HUMAN	E	132;117;53	ENSP00000276410:V132E;ENSP00000433871:V117E;ENSP00000434659:V53E	ENSP00000276410:V132E	V	-	2	0	CHRNA6	42731104	0.999000	0.42202	0.909000	0.35828	0.660000	0.38997	4.124000	0.57924	2.281000	0.76405	0.533000	0.62120	GTA		0.428	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			8	872	0	0	0	1	0	8	872				
ST18	9705	broad.mit.edu	37	8	53077787	53077787	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:53077787T>A	ENST00000276480.7	-	12	1888		c.e12-2			NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGCAAGAACTAAGCACAAAA	0.428																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.e12-2		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							157.0	150.0	152.0					8																	53077787		2203	4300	6503	SO:0001630	splice_region_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53077787T>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1205-2A>T	8.37:g.53077787T>A			Somatic						NM_014682.2	NP_055497.1	WXS	Illumina GAIIx	Phase_I	O60284	ST18_HUMAN			12	1888	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)						Q17RY1	Splice_Site	SNP	ENST00000276480.7	37		CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.797320	0.90538	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3526	0.83220	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ST18	53240340	1.000000	0.71417	0.968000	0.41197	0.966000	0.64601	7.903000	0.87398	2.255000	0.74692	0.533000	0.62120	.		0.428	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		Intron	7	577	0	0	0	1	0	7	577				
DCAF17	80067	broad.mit.edu	37	2	172314880	172314880	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:172314880A>T	ENST00000375255.3	+	8	1059		c.e8-1		DCAF17_ENST00000539783.1_Splice_Site|DCAF17_ENST00000468592.1_Intron	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TTTTGTTTTTAGTTCATGCAA	0.358																																						ENST00000375255.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						c.e8-1		DDB1 and CUL4 associated factor 17							94.0	89.0	91.0					2																	172314880		1853	4098	5951	SO:0001630	splice_region_variant	80067					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		g.chr2:172314880A>T	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.733-1A>T	2.37:g.172314880A>T			Somatic				DCAF17_ENST00000468592.1_Intron|DCAF17_ENST00000539783.1_Splice_Site		NM_025000.3	NP_079276.2	WXS	Illumina GAIIx	Phase_I	Q5H9S7	DCA17_HUMAN			8	1059	+								B2RTW5|Q53TN3|Q9H908	Splice_Site	SNP	ENST00000375255.3	37		CCDS2243.2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.984850	0.74474	.	.	ENSG00000115827	ENST00000375255;ENST00000539783	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6994	0.77533	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCAF17	172023126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.803000	0.75180	2.192000	0.70111	0.477000	0.44152	.		0.358	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000	Intron	12	158	0	0	0	1	0	12	158				
DHRS7B	25979	broad.mit.edu	37	17	21094259	21094259	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:21094259A>T	ENST00000395511.3	+	7	1092		c.e7-1		DHRS7B_ENST00000581463.1_Intron|DHRS7B_ENST00000579303.1_Splice_Site	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						TATTTATTTTAGTTATGGACA	0.517																																						ENST00000395511.3																			1	Unknown(1)	p.?(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						c.e7-1		dehydrogenase/reductase (SDR family) member 7B							82.0	81.0	82.0					17																	21094259		2203	4300	6503	SO:0001630	splice_region_variant	25979					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	g.chr17:21094259A>T	BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	24547	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 1"""					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.773-1A>T	17.37:g.21094259A>T			Somatic				DHRS7B_ENST00000579303.1_Splice_Site|DHRS7B_ENST00000581463.1_Intron		NM_015510.4	NP_056325.2	WXS	Illumina GAIIx	Phase_I	Q6IAN0	DRS7B_HUMAN			7	1092	+								B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	Splice_Site	SNP	ENST00000395511.3	37		CCDS11215.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.592061	0.46214	.	.	ENSG00000109016	ENST00000395511;ENST00000346603	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1502	0.81611	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHRS7B	21034851	1.000000	0.71417	0.745000	0.31077	0.287000	0.27160	8.794000	0.91867	2.224000	0.72417	0.533000	0.62120	.		0.517	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3	NM_015510	Intron	8	102	0	0	0	1	0	8	102				
TM6SF1	53346	broad.mit.edu	37	15	83784595	83784595	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:83784595A>T	ENST00000322019.9	+	3	470		c.e3-1		RP11-382A20.2_ENST00000565513.1_RNA|TM6SF1_ENST00000564988.1_Splice_Site|TM6SF1_ENST00000379386.4_Splice_Site|TM6SF1_ENST00000565774.1_Splice_Site|TM6SF1_ENST00000379390.6_Splice_Site			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1							integral component of membrane (GO:0016021)				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TCTTTGCTCTAGTGTATGCAG	0.403																																						ENST00000322019.9																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.e3-1		transmembrane 6 superfamily member 1							152.0	129.0	136.0					15																	83784595		2203	4300	6503	SO:0001630	splice_region_variant	53346					integral to membrane		g.chr15:83784595A>T	AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.197-1A>T	15.37:g.83784595A>T			Somatic				TM6SF1_ENST00000565774.1_Splice_Site|TM6SF1_ENST00000379390.6_Splice_Site|TM6SF1_ENST00000564988.1_Splice_Site|TM6SF1_ENST00000379386.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9BZW5	TM6S1_HUMAN			3	470	+								A8K7T5|H3BU56|Q4U0U5	Splice_Site	SNP	ENST00000322019.9	37		CCDS10323.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.086350	0.76642	.	.	ENSG00000136404	ENST00000322019;ENST00000379386;ENST00000379384;ENST00000379390;ENST00000258909	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6194	0.56595	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TM6SF1	81575599	1.000000	0.71417	0.875000	0.34327	0.997000	0.91878	8.031000	0.88826	1.872000	0.54250	0.459000	0.35465	.		0.403	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1	NM_023003	Intron	5	149	0	0	0	1	0	5	149				
TXNDC11	51061	broad.mit.edu	37	16	11773280	11773280	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:11773280G>T	ENST00000356957.3	-	13	2836	c.2729C>A	c.(2728-2730)gCc>gAc	p.A910D	TXNDC11_ENST00000283033.5_Missense_Mutation_p.A883D|TXNDC11_ENST00000570917.1_5'UTR			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	910					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GTTTTCTGAGGCATCGGCCAG	0.617																																						ENST00000356957.3																			0				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(2728-2730)gCc>gAc		thioredoxin domain containing 11							60.0	59.0	60.0					16																	11773280		2197	4300	6497	SO:0001583	missense	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11773280G>T	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.2729C>A	16.37:g.11773280G>T	ENSP00000349439:p.Ala910Asp		Somatic				TXNDC11_ENST00000283033.5_Missense_Mutation_p.A883D|TXNDC11_ENST00000570917.1_5'UTR	p.A910D			WXS	Illumina GAIIx	Phase_I	Q6PKC3	TXD11_HUMAN			13	2836	-			910					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	37	c.2729C>A		.	.	.	.	.	.	.	.	.	.	G	16.51	3.144487	0.57044	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.17691	2.48;2.26	5.63	4.66	0.58398	.	0.053534	0.85682	D	0.000000	T	0.40932	0.1137	M	0.69823	2.125	0.51233	D	0.999915	D;D	0.89917	1.0;1.0	D;D	0.76575	0.973;0.988	T	0.28004	-1.0057	10	0.49607	T	0.09	-16.0879	14.8798	0.70522	0.0:0.0:0.8557:0.1443	.	910;883	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	D	910;883	ENSP00000349439:A910D;ENSP00000283033:A883D	ENSP00000283033:A883D	A	-	2	0	TXNDC11	11680781	1.000000	0.71417	0.971000	0.41717	0.103000	0.19146	5.822000	0.69265	1.339000	0.45563	0.655000	0.94253	GCC		0.617	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		74	166	1	0	4.35598e-54	1	4.7302e-54	74	166				
PRRG4	79056	broad.mit.edu	37	11	32852052	32852052	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:32852052A>T	ENST00000257836.3	+	2	231		c.e2-1			NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)							extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					tGTTTGTTTTAGTTTGTTTGA	0.423																																						ENST00000257836.3																			0				large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7						c.e2-1		proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)							57.0	54.0	55.0					11																	32852052		2202	4299	6501	SO:0001630	splice_region_variant	79056					extracellular region|Golgi apparatus|integral to membrane	calcium ion binding	g.chr11:32852052A>T	AF326351	CCDS7881.1	11p13	2008-02-05			ENSG00000135378	ENSG00000135378			30799	protein-coding gene	gene with protein product		611690				11171957	Standard	NM_024081		Approved	TMG4	uc001mtx.3	Q9BZD6	OTTHUMG00000166219	ENST00000257836.3:c.-22-1A>T	11.37:g.32852052A>T			Somatic						NM_024081.5	NP_076986.1	WXS	Illumina GAIIx	Phase_I	Q9BZD6	TMG4_HUMAN			2	231	+	Breast(20;0.206)								Splice_Site	SNP	ENST00000257836.3	37		CCDS7881.1																																																																																				0.423	PRRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388446.1	NM_024081	Intron	4	23	0	0	0	1	0	4	23				
UBXN10	127733	broad.mit.edu	37	1	20517654	20517654	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:20517654G>A	ENST00000375099.3	+	2	684	c.600G>A	c.(598-600)ctG>ctA	p.L200L		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	200	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CAAGGTTGCTGCTTGCTGTTA	0.493																																						ENST00000375099.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						c.(598-600)ctG>ctA		UBX domain protein 10							125.0	120.0	122.0					1																	20517654		2203	4300	6503	SO:0001819	synonymous_variant	127733							g.chr1:20517654G>A	AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"""UBX domain containing"""	26354	protein-coding gene	gene with protein product			"""UBX domain containing 3"""	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.600G>A	1.37:g.20517654G>A			Somatic					p.L200L	NM_152376.3	NP_689589.1	WXS	Illumina GAIIx	Phase_I	Q96LJ8	UBX10_HUMAN			2	684	+			200			UBX.		Q5R386	Silent	SNP	ENST00000375099.3	37	c.600G>A	CCDS205.1																																																																																				0.493	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007693.1	NM_152376		5	397	0	0	0	1	0	5	397				
SLC26A4	5172	broad.mit.edu	37	7	107315388	107315388	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:107315388A>T	ENST00000265715.3	+	6	824		c.e6-1			NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4						chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCTTATCGTAGTTGATATTT	0.398									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.e6-1		solute carrier family 26 (anion exchanger), member 4							211.0	198.0	202.0					7																	107315388		2203	4300	6503	SO:0001630	splice_region_variant	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107315388A>T	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.601-1A>T	7.37:g.107315388A>T			Somatic						NM_000441.1	NP_000432.1	WXS	Illumina GAIIx	Phase_I	O43511	S26A4_HUMAN			6	824	+								B7Z266|O43170	Splice_Site	SNP	ENST00000265715.3	37		CCDS5746.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.797617	0.70567	.	.	ENSG00000091137	ENST00000265715	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7942	0.78398	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC26A4	107102624	1.000000	0.71417	0.995000	0.50966	0.749000	0.42624	8.456000	0.90359	2.135000	0.66039	0.528000	0.53228	.		0.398	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	Intron	6	339	0	0	0	1	0	6	339				
NOS1	4842	broad.mit.edu	37	12	117672374	117672374	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:117672374A>T	ENST00000338101.4	-	21	3337	c.3333T>A	c.(3331-3333)gcT>gcA	p.A1111A	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.A1077A			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TGTTACCTAAAGCCGTGTTCC	0.587																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3229-3231)gcT>gcA		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						48.0	50.0	50.0					12																	117672374		2004	4176	6180	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117672374A>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3333T>A	12.37:g.117672374A>T			Somatic				NOS1_ENST00000338101.4_Silent_p.A1111A|NOS1_ENST00000344089.3_3'UTR	p.A1077A	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	WXS	Illumina GAIIx	Phase_I	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	21	3916	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1077			FAD-binding FR-type.			Silent	SNP	ENST00000338101.4	37	c.3231T>A	CCDS55890.1																																																																																				0.587	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			35	113	0	0	0	1	0	35	113				
GRIK1	2897	broad.mit.edu	37	21	30961307	30961307	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr21:30961307C>T	ENST00000399907.1	-	11	1832	c.1421G>A	c.(1420-1422)aGa>aAa	p.R474K	GRIK1_ENST00000399909.1_Missense_Mutation_p.R459K|GRIK1_ENST00000309434.7_Missense_Mutation_p.R476K|GRIK1_ENST00000389124.2_Missense_Mutation_p.R474K|GRIK1_ENST00000399914.1_Missense_Mutation_p.R459K|GRIK1_ENST00000535441.1_Missense_Mutation_p.R476K|GRIK1_ENST00000399913.1_Missense_Mutation_p.R474K|GRIK1_ENST00000327783.4_Missense_Mutation_p.R474K|GRIK1_ENST00000389125.3_Missense_Mutation_p.R459K	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	474					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TCCTTCAAATCTGTCATTTCC	0.368																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(1375-1377)aGa>aAa		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						122.0	122.0	122.0					21																	30961307		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30961307C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1421G>A	21.37:g.30961307C>T	ENSP00000382791:p.Arg474Lys		Somatic				GRIK1_ENST00000309434.7_Missense_Mutation_p.R476K|GRIK1_ENST00000399909.1_Missense_Mutation_p.R459K|GRIK1_ENST00000399913.1_Missense_Mutation_p.R474K|GRIK1_ENST00000389124.2_Missense_Mutation_p.R474K|GRIK1_ENST00000389125.3_Missense_Mutation_p.R459K|GRIK1_ENST00000399907.1_Missense_Mutation_p.R474K|GRIK1_ENST00000535441.1_Missense_Mutation_p.R476K|GRIK1_ENST00000327783.4_Missense_Mutation_p.R474K	p.R459K			WXS	Illumina GAIIx	Phase_I	P39086	GRIK1_HUMAN			10	1897	-			474					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.1376G>A	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578970	0.86645	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.1	5.1	0.69264	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.81837	0.4907	L	0.46819	1.47	0.58432	D	0.999998	P;P;P;P	0.38677	0.642;0.473;0.642;0.589	P;P;P;B	0.51055	0.466;0.657;0.466;0.336	T	0.79607	-0.1733	10	0.39692	T	0.17	.	18.654	0.91441	0.0:1.0:0.0:0.0	.	474;459;474;459	E9PD61;E7EPZ0;P39086;P39086-2	.;.;GRIK1_HUMAN;.	K	474;459;474;459;476;474;474;459;476	ENSP00000327687:R474K;ENSP00000373777:R459K;ENSP00000382797:R474K;ENSP00000382798:R459K;ENSP00000446326:R476K;ENSP00000373776:R474K;ENSP00000382791:R474K;ENSP00000382793:R459K;ENSP00000311646:R476K	ENSP00000311646:R476K	R	-	2	0	GRIK1	29883178	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.886000	0.69743	2.794000	0.96219	0.650000	0.86243	AGA		0.368	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			27	122	0	0	0	1	0	27	122				
OR4P4	81300	broad.mit.edu	37	11	55405931	55405931	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:55405931A>T	ENST00000314612.2	+	1	98	c.98A>T	c.(97-99)tAc>tTc	p.Y33F		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTGTTTTGCTACATTGCTATT	0.363																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(97-99)tAc>tTc		olfactory receptor, family 4, subfamily P, member 4							136.0	123.0	128.0					11																	55405931		2182	4024	6206	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55405931A>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.98A>T	11.37:g.55405931A>T	ENSP00000324831:p.Tyr33Phe		Somatic					p.Y33F	NM_001004124.1	NP_001004124.1	WXS	Illumina GAIIx	Phase_I	Q8NGL7	OR4P4_HUMAN			1	98	+			33						Missense_Mutation	SNP	ENST00000314612.2	37	c.98A>T	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.156677	0.38119	.	.	ENSG00000181927	ENST00000314612	T	0.04406	3.63	5.02	5.02	0.67125	.	0.000000	0.37178	N	0.002207	T	0.09158	0.0226	L	0.55213	1.73	0.22292	N	0.99923	P	0.43024	0.798	P	0.44518	0.452	T	0.06881	-1.0802	10	0.72032	D	0.01	-4.5347	13.7294	0.62779	1.0:0.0:0.0:0.0	.	33	Q8NGL7	OR4P4_HUMAN	F	33	ENSP00000324831:Y33F	ENSP00000324831:Y33F	Y	+	2	0	OR4P4	55162507	0.966000	0.33281	0.028000	0.17463	0.169000	0.22640	2.690000	0.47001	1.908000	0.55244	0.509000	0.49947	TAC		0.363	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		5	215	0	0	0	1	0	5	215				
ITGA1	3672	broad.mit.edu	37	5	52160595	52160595	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:52160595A>T	ENST00000282588.6	+	4	753		c.e4-1			NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1						activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTCTATTTTTAGTTAATACAT	0.328																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.e4-1		integrin, alpha 1							54.0	57.0	56.0					5																	52160595		2202	4298	6500	SO:0001630	splice_region_variant	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52160595A>T	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.296-1A>T	5.37:g.52160595A>T			Somatic						NM_181501.1	NP_852478.1	WXS	Illumina GAIIx	Phase_I	P56199	ITA1_HUMAN			4	753	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)						B2RNU0	Splice_Site	SNP	ENST00000282588.6	37		CCDS3955.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.149212	0.57151	.	.	ENSG00000213949	ENST00000282588	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9183	0.79539	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGA1	52196352	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.321000	0.72881	2.211000	0.71520	0.477000	0.44152	.		0.328	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501	Intron	4	64	0	0	0	1	0	4	64				
TCP1	6950	broad.mit.edu	37	6	160206440	160206440	+	Missense_Mutation	SNP	T	T	C	rs376262511		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:160206440T>C	ENST00000321394.7	-	5	746	c.466A>G	c.(466-468)Atg>Gtg	p.M156V	SNORA29_ENST00000384183.1_RNA|TCP1_ENST00000420894.2_Missense_Mutation_p.M156V|TCP1_ENST00000392168.2_Start_Codon_SNP_p.M1V|TCP1_ENST00000544255.1_Intron	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	156					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TTGGAAGACATGGATGTCTTA	0.373																																						ENST00000321394.7																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10						c.(466-468)Atg>Gtg		t-complex 1		T	VAL/MET,VAL/MET	0,4406		0,0,2203	189.0	165.0	173.0		1,466	5.9	0.1	6		173	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TCP1	NM_001008897.1,NM_030752.2	21,21	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	1/402,156/557	160206440	1,13005	2203	4300	6503	SO:0001583	missense	6950				'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding	g.chr6:160206440T>C	X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.466A>G	6.37:g.160206440T>C	ENSP00000317334:p.Met156Val		Somatic				TCP1_ENST00000420894.2_Missense_Mutation_p.M156V|TCP1_ENST00000392168.2_Start_Codon_SNP_p.M1V|TCP1_ENST00000544255.1_Intron	p.M156V	NM_030752.2	NP_110379.2	WXS	Illumina GAIIx	Phase_I	P17987	TCPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	5	746	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	156					E1P5B2|Q15556|Q5TCM3	Missense_Mutation	SNP	ENST00000321394.7	37	c.466A>G	CCDS5269.1	.	.	.	.	.	.	.	.	.	.	T	16.44	3.124825	0.56613	0.0	1.16E-4	ENSG00000120438	ENST00000321394;ENST00000420894;ENST00000392168;ENST00000538128;ENST00000539948	T;T;T;D;T	0.87256	2.55;2.55;2.55;-2.23;-1.12	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.85716	0.5761	M	0.87038	2.855	0.80722	D	1	B;B	0.24258	0.032;0.1	B;B	0.29785	0.041;0.107	D	0.86268	0.1659	10	0.87932	D	0	-37.6405	12.3641	0.55219	0.0:0.0672:0.0:0.9328	.	156;156	E7ERF2;P17987	.;TCPA_HUMAN	V	156;156;1;36;134	ENSP00000317334:M156V;ENSP00000390159:M156V;ENSP00000376008:M1V;ENSP00000442185:M36V;ENSP00000439671:M134V	ENSP00000317334:M156V	M	-	1	0	TCP1	160126430	1.000000	0.71417	0.090000	0.20809	0.929000	0.56500	7.492000	0.81482	2.371000	0.80710	0.533000	0.62120	ATG		0.373	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752		4	236	0	0	0	1	0	4	236				
AGO4	192670	broad.mit.edu	37	1	36315756	36315756	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:36315756A>T	ENST00000373210.3	+	16	2420		c.e16-1		AGO4_ENST00000488778.1_Splice_Site	NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										TGTTTTTTGTAGGTAGGGAAA	0.388																																						ENST00000373210.3																			0											c.e16-1		argonaute RISC catalytic component 4							137.0	126.0	130.0					1																	36315756		2203	4300	6503	SO:0001630	splice_region_variant	192670							g.chr1:36315756A>T	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.2176-1A>T	1.37:g.36315756A>T			Somatic				AGO4_ENST00000488778.1_Splice_Site		NM_017629.3	NP_060099.2	WXS	Illumina GAIIx	Phase_I					16	2420	+								A7MD27	Splice_Site	SNP	ENST00000373210.3	37		CCDS397.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.516007	0.64634	.	.	ENSG00000134698	ENST00000373210	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6709	0.68942	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF2C4	36088343	1.000000	0.71417	0.903000	0.35520	0.900000	0.52787	8.867000	0.92314	1.913000	0.55393	0.482000	0.46254	.		0.388	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629	Intron	4	106	0	0	0	1	0	4	106				
ALS2CR11	151254	broad.mit.edu	37	2	202401045	202401045	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:202401045T>A	ENST00000286195.3	-	13	1251		c.e13-2		ALS2CR11_ENST00000439140.1_Splice_Site|ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000450242.1_Splice_Site	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11											NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						ATCCAGTAACTAGAAAATACA	0.313																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.e13-2		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							80.0	77.0	78.0					2																	202401045		2201	4299	6500	SO:0001630	splice_region_variant	151254							g.chr2:202401045T>A	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1207-2A>T	2.37:g.202401045T>A			Somatic				ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000450242.1_Splice_Site|ALS2CR11_ENST00000286195.3_Splice_Site		NM_001168221.1	NP_001161693.1	WXS	Illumina GAIIx	Phase_I	Q53TS8	AL2SA_HUMAN			13	1251	-								C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Splice_Site	SNP	ENST00000286195.3	37		CCDS2349.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533547	0.45073	.	.	ENSG00000155754	ENST00000286195;ENST00000439140;ENST00000450242	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9723	0.47446	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ALS2CR11	202109290	0.991000	0.36638	0.995000	0.50966	0.506000	0.33950	3.251000	0.51453	2.155000	0.67459	0.533000	0.62120	.		0.313	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525	Intron	4	81	0	0	0	1	0	4	81				
PDSS1	23590	broad.mit.edu	37	10	27031424	27031424	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:27031424A>T	ENST00000376215.5	+	11	1079		c.e11-1		PDSS1_ENST00000470978.1_Splice_Site|PDSS1_ENST00000376203.5_Splice_Site	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1						isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						TTTTTTTGTTAGTTCCCAGAA	0.348																																						ENST00000376215.5																			0				autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						c.e11-1		prenyl (decaprenyl) diphosphate synthase, subunit 1							58.0	57.0	57.0					10																	27031424		2203	4300	6503	SO:0001630	splice_region_variant	23590				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity	g.chr10:27031424A>T	AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"""coenzyme Q1 homolog (yeast)"""	607429	"""trans-prenyltransferase"""	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.1027-1A>T	10.37:g.27031424A>T			Somatic				PDSS1_ENST00000376203.5_Splice_Site|PDSS1_ENST00000470978.1_Splice_Site		NM_014317.3	NP_055132.2	WXS	Illumina GAIIx	Phase_I	Q5T2R2	DPS1_HUMAN			11	1079	+								Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Splice_Site	SNP	ENST00000376215.5	37		CCDS31168.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.020059	0.75275	.	.	ENSG00000148459	ENST00000376215;ENST00000376203;ENST00000396343	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8713	0.70459	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDSS1	27071430	1.000000	0.71417	0.998000	0.56505	0.851000	0.48451	8.979000	0.93455	1.977000	0.57605	0.528000	0.53228	.		0.348	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1		Intron	4	63	0	0	0	1	0	4	63				
ZNF302	55900	broad.mit.edu	37	19	35173795	35173795	+	Silent	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:35173795C>A	ENST00000446502.2	+	4	463	c.255C>A	c.(253-255)gtC>gtA	p.V85V	ZNF302_ENST00000509528.1_Intron|ZNF302_ENST00000423823.2_Silent_p.V41V|ZNF302_ENST00000507959.1_Silent_p.V41V|ZNF302_ENST00000505365.2_Silent_p.V41V|ZNF302_ENST00000457781.2_Silent_p.V41V|ZNF302_ENST00000505242.1_Silent_p.V41V			Q9NR11	ZN302_HUMAN	zinc finger protein 302	41					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)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGAACCTGGTCTCTGTAGGTA	0.453																																						ENST00000505365.2																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(121-123)gtC>gtA		zinc finger protein 302							177.0	153.0	161.0					19																	35173795		1979	4147	6126	SO:0001819	synonymous_variant	55900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35173795C>A	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.255C>A	19.37:g.35173795C>A			Somatic				ZNF302_ENST00000509528.1_Intron|ZNF302_ENST00000457781.2_Silent_p.V41V|ZNF302_ENST00000507959.1_Silent_p.V41V|ZNF302_ENST00000423823.2_Silent_p.V41V|ZNF302_ENST00000505242.1_Silent_p.V41V|ZNF302_ENST00000446502.2_Silent_p.V85V	p.V41V			WXS	Illumina GAIIx	Phase_I	Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		3	459	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		41			KRAB.		Q658J3|Q9BZD8|Q9P0J4	Silent	SNP	ENST00000446502.2	37	c.123C>A																																																																																					0.453	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1			6	263	1	0	0.217242	1	0.218626	6	263				
NLRP7	199713	broad.mit.edu	37	19	55451743	55451743	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:55451743G>A	ENST00000590030.1	-	3	484	c.444C>T	c.(442-444)gaC>gaT	p.D148D	NLRP7_ENST00000592784.1_Silent_p.D148D|NLRP7_ENST00000448121.2_Silent_p.D148D|NLRP7_ENST00000340844.2_Silent_p.D148D|NLRP7_ENST00000328092.5_Silent_p.D148D|NLRP7_ENST00000588756.1_Silent_p.D148D|NLRP7_ENST00000446217.1_Silent_p.D176D			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	148							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GAGTGACGTCGTCATGGAAAT	0.493																																						ENST00000588756.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(442-444)gaC>gaT		NLR family, pyrin domain containing 7							252.0	270.0	264.0					19																	55451743		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55451743G>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.444C>T	19.37:g.55451743G>A			Somatic				NLRP7_ENST00000590030.1_Silent_p.D148D|NLRP7_ENST00000446217.1_Silent_p.D176D|NLRP7_ENST00000340844.2_Silent_p.D148D|NLRP7_ENST00000448121.2_Silent_p.D148D|NLRP7_ENST00000592784.1_Silent_p.D148D|NLRP7_ENST00000328092.5_Silent_p.D148D	p.D148D			WXS	Illumina GAIIx	Phase_I	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	930	-			148					E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.444C>T	CCDS33109.1																																																																																				0.493	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		368	645	0	0	0	1	0	368	645				
NLRP4	147945	broad.mit.edu	37	19	56369938	56369938	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:56369938G>A	ENST00000301295.6	+	3	1601	c.1179G>A	c.(1177-1179)caG>caA	p.Q393Q	NLRP4_ENST00000346986.5_Silent_p.Q393Q|NLRP4_ENST00000587891.1_Silent_p.Q318Q	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	393	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CGCAAACCCAGCACCAGCTGA	0.572																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(1177-1179)caG>caA		NLR family, pyrin domain containing 4							65.0	65.0	65.0					19																	56369938		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56369938G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1179G>A	19.37:g.56369938G>A			Somatic				NLRP4_ENST00000587891.1_Silent_p.Q318Q|NLRP4_ENST00000346986.5_Silent_p.Q393Q	p.Q393Q	NM_134444.4	NP_604393.2	WXS	Illumina GAIIx	Phase_I	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1601	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	393			NACHT.		Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.1179G>A	CCDS12936.1																																																																																				0.572	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		3	91	0	0	0	1	0	3	91				
DCAF11	80344	broad.mit.edu	37	14	24587957	24587957	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:24587957A>T	ENST00000446197.3	+	8	1451		c.e8-1		RP11-468E2.6_ENST00000558325.1_5'Flank|DCAF11_ENST00000396941.4_Splice_Site|DCAF11_ENST00000559115.1_Splice_Site|DCAF11_ENST00000396936.1_Splice_Site	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											TGCTTCTCTTAGTTCATATCT	0.463																																						ENST00000446197.3																			0											c.e8-1		DDB1 and CUL4 associated factor 11							173.0	146.0	155.0					14																	24587957		2203	4300	6503	SO:0001630	splice_region_variant	80344					CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24587957A>T	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.725-1A>T	14.37:g.24587957A>T			Somatic				DCAF11_ENST00000396936.1_Splice_Site|DCAF11_ENST00000396941.4_Splice_Site|DCAF11_ENST00000559115.1_Splice_Site		NM_025230.4	NP_079506.3	WXS	Illumina GAIIx	Phase_I	Q8TEB1	DCA11_HUMAN			8	1451	+								B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Splice_Site	SNP	ENST00000446197.3	37		CCDS9610.1	.	.	.	.	.	.	.	.	.	.	a	16.59	3.165130	0.57476	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7873	0.57514	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCAF11	23657797	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.189000	0.77747	2.125000	0.65367	0.533000	0.62120	.		0.463	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4		Intron	8	291	0	0	0	1	0	8	291				
IPMK	253430	broad.mit.edu	37	10	59955942	59955942	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:59955942T>C	ENST00000373935.3	-	6	1468	c.1146A>G	c.(1144-1146)cgA>cgG	p.R382R		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	382					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						AATCTATCATTCGCACTTCTA	0.373																																						ENST00000373935.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						c.(1144-1146)cgA>cgG		inositol polyphosphate multikinase							130.0	125.0	127.0					10																	59955942		2203	4300	6503	SO:0001819	synonymous_variant	253430					nucleus	ATP binding|inositol trisphosphate 6-kinase activity	g.chr10:59955942T>C	AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.1146A>G	10.37:g.59955942T>C			Somatic					p.R382R	NM_152230.4	NP_689416.1	WXS	Illumina GAIIx	Phase_I	Q8NFU5	IPMK_HUMAN			6	1468	-			382						Silent	SNP	ENST00000373935.3	37	c.1146A>G	CCDS7250.1																																																																																				0.373	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		3	271	0	0	0	1	0	3	271				
ZAK	51776	broad.mit.edu	37	2	174055621	174055621	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:174055621A>T	ENST00000375213.3	+	6	493		c.e6-1		MLTK_ENST00000539448.1_Splice_Site|MLTK_ENST00000480606.1_Splice_Site|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000431503.2_Splice_Site|MLTK_ENST00000338983.3_Splice_Site|MLTK_ENST00000409176.2_Splice_Site	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN							activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										TTCTTTTTTTAGTTGTTATAG	0.279																																						ENST00000338983.3																			0											c.e6-1									56.0	65.0	62.0					2																	174055621		2201	4297	6498	SO:0001630	splice_region_variant	51776							g.chr2:174055621A>T																												ENST00000375213.3:c.416-1A>T	2.37:g.174055621A>T			Somatic				MLTK_ENST00000409176.2_Splice_Site|MLTK_ENST00000539448.1_Splice_Site|MLTK_ENST00000375213.3_Splice_Site|MLTK_ENST00000480606.1_Splice_Site|MLTK_ENST00000431503.2_Splice_Site|MLK7-AS1_ENST00000419609.1_RNA|MLK7-AS1_ENST00000422703.1_RNA		NM_133646.2	NP_598407.1	WXS	Illumina GAIIx	Phase_I					6	610	+								B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Splice_Site	SNP	ENST00000375213.3	37		CCDS42777.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.353707	0.82243	.	.	ENSG00000091436	ENST00000539448;ENST00000409176;ENST00000338983;ENST00000431503;ENST00000375213	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AC013461.1	173763867	1.000000	0.71417	0.998000	0.56505	0.867000	0.49689	6.243000	0.72384	2.371000	0.80710	0.533000	0.62120	.		0.279	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1		Intron	4	52	0	0	0	1	0	4	52				
AKAP13	11214	broad.mit.edu	37	15	86124683	86124683	+	Silent	SNP	C	C	T	rs200852061	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:86124683C>T	ENST00000394518.2	+	7	3479	c.3384C>T	c.(3382-3384)gcC>gcT	p.A1128A	AKAP13_ENST00000361243.2_Silent_p.A1128A|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1128					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGAAGAATGCCGTTCTAGGTT	0.488													C|||	2	0.000399361	0.0	0.0029	5008	,	,		23944	0.0		0.0	False		,,,				2504	0.0				Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(3382-3384)gcC>gcT		A kinase (PRKA) anchor protein 13							92.0	85.0	87.0					15																	86124683		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86124683C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.3384C>T	15.37:g.86124683C>T			Somatic				AKAP13_ENST00000361243.2_Silent_p.A1128A	p.A1128A	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	WXS	Illumina GAIIx	Phase_I	Q12802	AKP13_HUMAN			7	3479	+			1128					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.3384C>T	CCDS32319.1																																																																																				0.488	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		25	179	0	0	0	1	0	25	179				
FAM47B	170062	broad.mit.edu	37	X	34962088	34962088	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:34962088C>T	ENST00000329357.5	+	1	1176	c.1140C>T	c.(1138-1140)taC>taT	p.Y380Y		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	380										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CTGGTAAATACCATTTTTGGG	0.552																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1138-1140)taC>taT		family with sequence similarity 47, member B							45.0	43.0	43.0					X																	34962088		2202	4300	6502	SO:0001819	synonymous_variant	170062							g.chrX:34962088C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1140C>T	X.37:g.34962088C>T			Somatic					p.Y380Y	NM_152631.2	NP_689844.2	WXS	Illumina GAIIx	Phase_I	Q8NA70	FA47B_HUMAN			1	1176	+			380					Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	c.1140C>T	CCDS14236.1																																																																																				0.552	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		23	80	0	0	0	1	0	23	80				
TRMT12	55039	broad.mit.edu	37	8	125463208	125463208	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:125463208A>T	ENST00000328599.3	+	1	161	c.40A>T	c.(40-42)Agt>Tgt	p.S14C	TRMT12_ENST00000521443.1_3'UTR	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	14					tRNA processing (GO:0008033)		transferase activity (GO:0016740)			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGAGAGAGAAAGTGGGAAGCC	0.502																																						ENST00000328599.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(40-42)Agt>Tgt		tRNA methyltransferase 12 homolog (S. cerevisiae)							144.0	151.0	149.0					8																	125463208		2203	4300	6503	SO:0001583	missense	55039				tRNA processing		methyltransferase activity	g.chr8:125463208A>T	AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 2"""	611244	"""tRNA methyltranferase 12 homolog (S. cerevisiae)"""			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.40A>T	8.37:g.125463208A>T	ENSP00000329858:p.Ser14Cys		Somatic				TRMT12_ENST00000521443.1_3'UTR	p.S14C	NM_017956.3	NP_060426.2	WXS	Illumina GAIIx	Phase_I	Q53H54	TYW2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	161	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		14					Q6PKB9|Q96F21|Q9NWK6	Missense_Mutation	SNP	ENST00000328599.3	37	c.40A>T	CCDS6349.1	.	.	.	.	.	.	.	.	.	.	A	3.145	-0.175555	0.06421	.	.	ENSG00000183665	ENST00000328599	T	0.45668	0.89	5.15	1.14	0.20703	.	0.999453	0.08093	N	0.998995	T	0.17023	0.0409	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19778	-1.0295	10	0.48119	T	0.1	-0.0085	4.532	0.12010	0.2483:0.0:0.5879:0.1639	.	14	Q53H54	TYW2_HUMAN	C	14	ENSP00000329858:S14C	ENSP00000329858:S14C	S	+	1	0	TRMT12	125532389	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.240000	0.18042	0.075000	0.16796	-0.379000	0.06801	AGT		0.502	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381465.1	NM_017956		4	316	0	0	0	1	0	4	316				
TWISTNB	221830	broad.mit.edu	37	7	19738038	19738038	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:19738038A>T	ENST00000222567.5	-	4	988	c.918T>A	c.(916-918)caT>caA	p.H306Q		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	306	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						TTTTCTTTTTATGGTCACTTT	0.393																																						ENST00000222567.5																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						c.(916-918)caT>caA		TWIST neighbor							124.0	139.0	134.0					7																	19738038		2201	4297	6498	SO:0001583	missense	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19738038A>T	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.918T>A	7.37:g.19738038A>T	ENSP00000222567:p.His306Gln		Somatic					p.H306Q	NM_001002926.1	NP_001002926.1	WXS	Illumina GAIIx	Phase_I	Q3B726	RPA43_HUMAN			4	988	-			306			Lys-rich.		A0PJ45|B7Z724	Missense_Mutation	SNP	ENST00000222567.5	37	c.918T>A	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.584919	0.65992	.	.	ENSG00000105849	ENST00000222567	.	.	.	5.84	-0.421	0.12332	.	0.238538	0.49305	D	0.000152	T	0.32346	0.0826	L	0.60455	1.87	0.23708	N	0.997055	P	0.34462	0.454	B	0.35240	0.198	T	0.16512	-1.0400	9	0.25106	T	0.35	-8.0833	6.9003	0.24279	0.4303:0.0:0.4462:0.1235	.	306	Q3B726	RPA43_HUMAN	Q	306	.	ENSP00000222567:H306Q	H	-	3	2	TWISTNB	19704563	0.982000	0.34865	0.999000	0.59377	0.996000	0.88848	0.304000	0.19228	0.125000	0.18397	0.397000	0.26171	CAT		0.393	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			6	239	0	0	0	1	0	6	239				
OR4K5	79317	broad.mit.edu	37	14	20388869	20388869	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:20388869A>T	ENST00000315915.4	+	1	129	c.104A>T	c.(103-105)tAt>tTt	p.Y35F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	35						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)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGTGTTGTATACAGTCATT	0.403																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(103-105)tAt>tTt		olfactory receptor, family 4, subfamily K, member 5							193.0	201.0	198.0					14																	20388869		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20388869A>T	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.104A>T	14.37:g.20388869A>T	ENSP00000319511:p.Tyr35Phe		Somatic					p.Y35F	NM_001005483.1	NP_001005483.1	WXS	Illumina GAIIx	Phase_I	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	129	+	all_cancers(95;0.00108)		35					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.104A>T	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	10.48	1.361696	0.24684	.	.	ENSG00000176281	ENST00000315915	T	0.04406	3.63	4.41	4.41	0.53225	.	0.000000	0.45867	D	0.000337	T	0.10423	0.0255	M	0.77103	2.36	0.31688	N	0.642233	P	0.37423	0.594	B	0.40285	0.325	T	0.02059	-1.1221	10	0.66056	D	0.02	.	11.614	0.51078	1.0:0.0:0.0:0.0	.	35	Q8NGD3	OR4K5_HUMAN	F	35	ENSP00000319511:Y35F	ENSP00000319511:Y35F	Y	+	2	0	OR4K5	19458709	0.996000	0.38824	0.119000	0.21687	0.287000	0.27160	3.354000	0.52254	1.838000	0.53458	0.533000	0.62120	TAT		0.403	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		8	528	0	0	0	1	0	8	528				
INADL	10207	broad.mit.edu	37	1	62288627	62288627	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:62288627T>C	ENST00000371158.2	+	15	1808	c.1694T>C	c.(1693-1695)aTt>aCt	p.I565T	INADL_ENST00000316485.6_Missense_Mutation_p.I565T	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	565	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTGCTGCCTATTCACACTCTG	0.428																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(1693-1695)aTt>aCt		InaD-like (Drosophila)							223.0	204.0	210.0					1																	62288627		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62288627T>C	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1694T>C	1.37:g.62288627T>C	ENSP00000360200:p.Ile565Thr		Somatic				INADL_ENST00000316485.6_Missense_Mutation_p.I565T	p.I565T	NM_176877.2	NP_795352.2	WXS	Illumina GAIIx	Phase_I	Q8NI35	INADL_HUMAN			15	1808	+			565			PDZ 4.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.1694T>C	CCDS617.2	.	.	.	.	.	.	.	.	.	.	T	19.04	3.749745	0.69533	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.12147	2.89;2.71	4.99	4.99	0.66335	PDZ/DHR/GLGF (2);	0.078865	0.50627	D	0.000120	T	0.25232	0.0613	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.97	D;D;P	0.91635	0.992;0.999;0.88	T	0.02378	-1.1168	10	0.25106	T	0.35	.	14.3646	0.66799	0.0:0.0:0.0:1.0	.	565;565;565	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	T	565	ENSP00000360200:I565T;ENSP00000326199:I565T	ENSP00000255202:I565T	I	+	2	0	INADL	62061215	1.000000	0.71417	0.997000	0.53966	0.890000	0.51754	6.797000	0.75150	1.882000	0.54519	0.459000	0.35465	ATT		0.428	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		97	298	0	0	0	1	0	97	298				
OR2L2	26246	broad.mit.edu	37	1	248201987	248201987	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:248201987T>C	ENST00000366479.2	+	1	514	c.418T>C	c.(418-420)Tgt>Cgt	p.C140R	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CAAAAGAGTGTGTGTGATGAT	0.448																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(418-420)Tgt>Cgt		olfactory receptor, family 2, subfamily L, member 2							189.0	167.0	175.0					1																	248201987		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201987T>C	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.418T>C	1.37:g.248201987T>C	ENSP00000355435:p.Cys140Arg		Somatic				OR2L13_ENST00000366478.2_Intron	p.C140R	NM_001004686.2	NP_001004686.1	WXS	Illumina GAIIx	Phase_I	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	514	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		140					Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.418T>C	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	10.50	1.366821	0.24771	.	.	ENSG00000203663	ENST00000366479	T	0.00388	7.59	1.9	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34386	U	0.004017	T	0.00241	0.0007	N	0.10972	0.075	0.19300	N	0.999977	P	0.37083	0.581	P	0.44921	0.464	T	0.51387	-0.8712	10	0.72032	D	0.01	.	9.0367	0.36291	0.0:0.0:0.0:1.0	.	140	Q8NH16	OR2L2_HUMAN	R	140	ENSP00000355435:C140R	ENSP00000355435:C140R	C	+	1	0	OR2L2	246268610	0.005000	0.15991	0.092000	0.20876	0.081000	0.17604	0.249000	0.18216	0.746000	0.32786	0.163000	0.16589	TGT		0.448	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		130	477	0	0	0	1	0	130	477				
LMO7	4008	broad.mit.edu	37	13	76369561	76369561	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr13:76369561G>A	ENST00000341547.4	+	6	1758	c.498G>A	c.(496-498)gtG>gtA	p.V166V	LMO7_ENST00000377534.3_Silent_p.V166V|LMO7_ENST00000526202.1_Silent_p.V75V|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000357063.3_Silent_p.V166V	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	166	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ACAGGAGAGTGAAAAATGTAA	0.313																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(496-498)gtG>gtA		LIM domain 7							89.0	90.0	90.0					13																	76369561		2203	4295	6498	SO:0001819	synonymous_variant	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76369561G>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.498G>A	13.37:g.76369561G>A			Somatic				LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000377534.3_Silent_p.V166V|LMO7_ENST00000526202.1_Silent_p.V75V|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000341547.4_Silent_p.V166V|RP11-29G8.3_ENST00000563635.1_RNA	p.V166V			WXS	Illumina GAIIx	Phase_I	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	6	1758	+		Breast(118;0.0992)	166			CH.		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Silent	SNP	ENST00000341547.4	37	c.498G>A	CCDS9454.1																																																																																				0.313	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358		22	102	0	0	0	1	0	22	102				
ACSL3	2181	broad.mit.edu	37	2	223782769	223782769	+	Missense_Mutation	SNP	A	A	T	rs375127172		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:223782769A>T	ENST00000357430.3	+	6	1093	c.562A>T	c.(562-564)Aca>Tca	p.T188S	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	188					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTAGTTGTTACATTATATGC	0.348			T	ETV1	prostate																																	ENST00000357430.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.(562-564)Aca>Tca		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						120.0	116.0	118.0					2																	223782769		2203	4300	6503	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223782769A>T	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.562A>T	2.37:g.223782769A>T	ENSP00000350012:p.Thr188Ser		Somatic				AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S	p.T188S	NM_004457.3	NP_004448.2	WXS	Illumina GAIIx	Phase_I	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	6	1093	+		Renal(207;0.0183)	188					Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.562A>T	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.846478	0.91277	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000540115	T;T;T	0.43294	0.95;0.95;0.95	5.22	5.22	0.72569	AMP-dependent synthetase/ligase (1);	0.097447	0.64402	D	0.000001	T	0.58963	0.2159	L	0.61036	1.89	0.80722	D	1	D	0.59357	0.985	D	0.66847	0.947	T	0.54642	-0.8263	10	0.25106	T	0.35	-17.5461	15.2561	0.73585	1.0:0.0:0.0:0.0	.	188	O95573	ACSL3_HUMAN	S	188;188;36	ENSP00000350012:T188S;ENSP00000375918:T188S;ENSP00000441643:T36S	ENSP00000350012:T188S	T	+	1	0	ACSL3	223491013	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	8.757000	0.91657	2.185000	0.69588	0.533000	0.62120	ACA		0.348	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		7	152	0	0	0	1	0	7	152				
MMP13	4322	broad.mit.edu	37	11	102822797	102822797	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:102822797C>T	ENST00000260302.3	-	5	771	c.743G>A	c.(742-744)gGc>gAc	p.G248D	MMP13_ENST00000340273.4_Missense_Mutation_p.G248D	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	248					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G248D(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GTGGCTTTTGCCGGTGTAGGT	0.448																																						ENST00000260302.3																			1	Substitution - Missense(1)	p.G248D(1)	kidney(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(742-744)gGc>gAc		matrix metallopeptidase 13 (collagenase 3)							248.0	239.0	242.0					11																	102822797		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102822797C>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.743G>A	11.37:g.102822797C>T	ENSP00000260302:p.Gly248Asp		Somatic				MMP13_ENST00000340273.4_Missense_Mutation_p.G248D	p.G248D	NM_002427.3	NP_002418.1	WXS	Illumina GAIIx	Phase_I	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	5	771	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	248					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.743G>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	5.496	0.276438	0.10403	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.46819	0.86;0.86	5.59	4.68	0.58851	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.207964	0.52532	N	0.000079	T	0.16557	0.0398	N	0.01417	-0.88	0.44635	D	0.99761	B	0.02656	0.0	B	0.08055	0.003	T	0.20706	-1.0267	10	0.02654	T	1	.	10.717	0.46019	0.0:0.8549:0.0:0.1451	.	248	P45452	MMP13_HUMAN	D	248	ENSP00000260302:G248D;ENSP00000339672:G248D	ENSP00000260302:G248D	G	-	2	0	MMP13	102328007	0.817000	0.29147	1.000000	0.80357	0.983000	0.72400	1.516000	0.35856	1.479000	0.48272	0.655000	0.94253	GGC		0.448	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		6	621	0	0	0	1	0	6	621				
PKP2	5318	broad.mit.edu	37	12	32996124	32996124	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:32996124T>C	ENST00000070846.6	-	6	1526	c.1502A>G	c.(1501-1503)gAc>gGc	p.D501G	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	501					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					accatgttggtcaggctggtc	0.582																																						ENST00000070846.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(1501-1503)gAc>gGc		plakophilin 2							15.0	15.0	15.0					12																	32996124		2197	4284	6481	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:32996124T>C	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1502A>G	12.37:g.32996124T>C	ENSP00000070846:p.Asp501Gly		Somatic				PKP2_ENST00000340811.4_Intron	p.D501G	NM_004572.3	NP_004563.2	WXS	Illumina GAIIx	Phase_I	Q99959	PKP2_HUMAN			6	1526	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		501					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.1502A>G	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	T	0.232	-1.020201	0.02061	.	.	ENSG00000057294	ENST00000070846;ENST00000537278	T	0.42900	0.96	0.51	-1.02	0.10135	Armadillo-type fold (1);	.	.	.	.	T	0.14013	0.0339	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22487	-1.0215	8	0.19147	T	0.46	.	.	.	.	.	501	Q99959	PKP2_HUMAN	G	501	ENSP00000070846:D501G	ENSP00000070846:D501G	D	-	2	0	PKP2	32887391	0.003000	0.15002	0.003000	0.11579	0.019000	0.09904	-0.447000	0.06828	-0.664000	0.05324	-0.991000	0.02546	GAC		0.582	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		3	16	0	0	0	1	0	3	16				
DERL3	91319	broad.mit.edu	37	22	24179339	24179339	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:24179339T>C	ENST00000318109.7	-	6	542	c.526A>G	c.(526-528)Att>Gtt	p.I176V	DERL3_ENST00000406855.3_Missense_Mutation_p.I176V|DERL3_ENST00000404056.1_Missense_Mutation_p.I149V|DERL3_ENST00000464023.1_5'Flank|DERL3_ENST00000476077.1_Missense_Mutation_p.I176V			Q96Q80	DERL3_HUMAN	derlin 3	176					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)				ovary(1)|prostate(1)|skin(1)	3						CCCACCGCAATCCCTGTGAGA	0.632																																						ENST00000404056.1																			0				ovary(1)|prostate(1)|skin(1)	3						c.(445-447)Att>Gtt		derlin 3							60.0	55.0	56.0					22																	24179339		2203	4300	6503	SO:0001583	missense	91319				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding	g.chr22:24179339T>C	AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"""chromosome 22 open reading frame 14"", ""Der1-like domain family, member 3"""	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743	ENST00000318109.7:c.526A>G	22.37:g.24179339T>C	ENSP00000315303:p.Ile176Val		Somatic				DERL3_ENST00000476077.1_Missense_Mutation_p.I176V|DERL3_ENST00000318109.7_Missense_Mutation_p.I176V|DERL3_ENST00000406855.3_Missense_Mutation_p.I176V	p.I149V			WXS	Illumina GAIIx	Phase_I	Q96Q80	DERL3_HUMAN			5	463	-			176		F -> L (in dbSNP:rs3177243).			F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	Missense_Mutation	SNP	ENST00000318109.7	37	c.445A>G	CCDS33615.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.809669	0.31961	.	.	ENSG00000099958	ENST00000406855;ENST00000404056;ENST00000318109;ENST00000476077	T;T;T;T	0.34275	2.76;1.37;2.76;2.76	4.63	3.57	0.40892	.	0.293288	0.32836	N	0.005585	T	0.35913	0.0948	L	0.59912	1.85	0.50813	D	0.999899	B;B	0.30889	0.128;0.299	B;B	0.36186	0.098;0.219	T	0.10268	-1.0637	10	0.37606	T	0.19	.	9.7818	0.40653	0.0:0.0833:0.0:0.9167	.	176;176	Q96Q80-2;Q96Q80	.;DERL3_HUMAN	V	176;149;176;176	ENSP00000384744:I176V;ENSP00000384473:I149V;ENSP00000315303:I176V;ENSP00000419399:I176V	ENSP00000315303:I176V	I	-	1	0	DERL3	22509339	1.000000	0.71417	0.759000	0.31340	0.800000	0.45204	4.887000	0.63156	0.725000	0.32318	0.456000	0.33151	ATT		0.632	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319905.1	NM_198440		3	27	0	0	0	1	0	3	27				
PKD2	5311	broad.mit.edu	37	4	88967931	88967931	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:88967931A>T	ENST00000237596.2	+	6	1523	c.1457A>T	c.(1456-1458)tAc>tTc	p.Y486F	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TTTATCTTTTACTATGTGGTG	0.383																																						ENST00000237596.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(1456-1458)tAc>tTc		polycystic kidney disease 2 (autosomal dominant)							209.0	193.0	198.0					4																	88967931		2203	4300	6503	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88967931A>T	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.1457A>T	4.37:g.88967931A>T	ENSP00000237596:p.Tyr486Phe		Somatic				PKD2_ENST00000508588.1_Intron	p.Y486F	NM_000297.3	NP_000288.1	WXS	Illumina GAIIx	Phase_I	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	6	1523	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	486					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000237596.2	37	c.1457A>T	CCDS3627.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486666	0.84854	.	.	ENSG00000118762	ENST00000237596	D	0.96992	-4.2	5.62	5.62	0.85841	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.96219	0.8767	L	0.59967	1.855	0.80722	D	1	B	0.25486	0.127	B	0.40134	0.32	D	0.95130	0.8254	10	0.62326	D	0.03	-20.057	15.8159	0.78599	1.0:0.0:0.0:0.0	.	486	Q13563	PKD2_HUMAN	F	486	ENSP00000237596:Y486F	ENSP00000237596:Y486F	Y	+	2	0	PKD2	89186955	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.296000	0.96104	2.133000	0.65898	0.482000	0.46254	TAC		0.383	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	NM_000297		8	205	0	0	0	1	0	8	205				
ATP1A2	477	broad.mit.edu	37	1	160098456	160098456	+	Silent	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:160098456G>C	ENST00000361216.3	+	9	1121	c.1032G>C	c.(1030-1032)ctG>ctC	p.L344L	ATP1A2_ENST00000392233.3_Silent_p.L344L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	344					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCTGACCCTGACAGCCAAGC	0.572																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(1030-1032)ctG>ctC		ATPase, Na+/K+ transporting, alpha 2 polypeptide							83.0	77.0	79.0					1																	160098456		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160098456G>C	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1032G>C	1.37:g.160098456G>C			Somatic				ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.L344L	p.L344L	NM_000702.3	NP_000693.1	WXS	Illumina GAIIx	Phase_I	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		9	1121	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		344					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.1032G>C	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	8.661	0.900587	0.17686	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.77	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0569	0.53540	0.0858:0.0:0.9142:0.0	.	.	.	.	S	55	.	.	X	+	2	2	ATP1A2	158365080	0.990000	0.36364	1.000000	0.80357	0.929000	0.56500	0.128000	0.15810	1.141000	0.42275	0.561000	0.74099	TGA		0.572	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		4	319	0	0	0	1	0	4	319				
PTEN	5728	broad.mit.edu	37	10	89712017	89712017	+	Splice_Site	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:89712017G>A	ENST00000371953.3	+	6	1991		c.e6+1		PTEN_ENST00000472832.1_Splice_Site	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(5)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAACTTGCAGTAAGTGCTTG	0.343		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		50	Whole gene deletion(37)|Deletion - Frameshift(7)|Unknown(5)|Deletion - In frame(1)	p.0?(37)|p.R55fs*1(5)|p.?(5)|p.Y27fs*1(2)|p.G165_*404del(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|endometrium(2)|breast(2)|soft_tissue(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.e6+1		phosphatase and tensin homolog							139.0	138.0	138.0					10																	89712017		2203	4300	6503	SO:0001630	splice_region_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89712017G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.634+1G>A	10.37:g.89712017G>A		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic				PTEN_ENST00000472832.1_Splice_Site		NM_000314.4	NP_000305.3	WXS	Illumina GAIIx	Phase_I	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1991	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)						B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	ENST00000371953.3	37		CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221541	0.79464	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1698	0.98157	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89701997	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.365000	0.97139	2.777000	0.95525	0.585000	0.79938	.		0.343	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Intron	81	414	0	0	0	1	0	81	414				
SIPA1L1	26037	broad.mit.edu	37	14	72139063	72139063	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:72139063A>T	ENST00000555818.1	+	9	3177		c.e9-1		SIPA1L1_ENST00000537413.1_Splice_Site|SIPA1L1_ENST00000358550.2_Splice_Site|SIPA1L1_ENST00000381232.3_Splice_Site	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1						actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTCCTTGTCTAGTTTGTTTCA	0.433																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.e9-1		signal-induced proliferation-associated 1 like 1							88.0	78.0	81.0					14																	72139063		2203	4300	6503	SO:0001630	splice_region_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72139063A>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2830-1A>T	14.37:g.72139063A>T			Somatic				SIPA1L1_ENST00000358550.2_Splice_Site|SIPA1L1_ENST00000537413.1_Splice_Site|SIPA1L1_ENST00000381232.3_Splice_Site		NM_015556.1	NP_056371.1	WXS	Illumina GAIIx	Phase_I	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	9	3177	+								J3KP19|O95321|Q9UDU4|Q9UNU4	Splice_Site	SNP	ENST00000555818.1	37		CCDS9807.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.032667	0.54790	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0957	0.81123	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SIPA1L1	71208816	1.000000	0.71417	0.997000	0.53966	0.507000	0.33981	7.236000	0.78154	2.199000	0.70637	0.533000	0.62120	.		0.433	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	Intron	8	211	0	0	0	1	0	8	211				
RAB11FIP1	80223	broad.mit.edu	37	8	37756812	37756812	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:37756812C>A	ENST00000330843.4	-	1	160	c.148G>T	c.(148-150)Gag>Tag	p.E50*	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Nonsense_Mutation_p.E50*	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	50	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GCGTACTTCTCCTTGCCCACC	0.736																																						ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(148-150)Gag>Tag		RAB11 family interacting protein 1 (class I)							13.0	16.0	15.0					8																	37756812		2193	4286	6479	SO:0001587	stop_gained	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37756812C>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.148G>T	8.37:g.37756812C>A	ENSP00000331342:p.Glu50*		Somatic				RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Nonsense_Mutation_p.E50*	p.E50*	NM_001002814.2	NP_001002814.2	WXS	Illumina GAIIx	Phase_I	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		1	160	-		Lung NSC(58;0.118)|all_lung(54;0.195)	50			C2.		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Nonsense_Mutation	SNP	ENST00000330843.4	37	c.148G>T	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	c	40	8.040966	0.98624	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000343853	.	.	.	5.05	5.05	0.67936	.	0.092057	0.47455	D	0.000234	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.5335	18.0352	0.89298	0.0:1.0:0.0:0.0	.	.	.	.	X	50	.	ENSP00000287263:E50X	E	-	1	0	RAB11FIP1	37875970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.771000	0.68881	2.346000	0.79739	0.645000	0.84053	GAG		0.736	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		5	21	1	0	0.217242	1	0.218626	5	21				
ZFYVE9	9372	broad.mit.edu	37	1	52747336	52747336	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:52747336T>C	ENST00000371591.1	+	9	3004	c.2873T>C	c.(2872-2874)gTg>gCg	p.V958A	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.V899A|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.V958A	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	958					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TCTGTAGATGTGAACAGGAAG	0.373																																						ENST00000287727.3																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						c.(2872-2874)gTg>gCg		zinc finger, FYVE domain containing 9							132.0	115.0	121.0					1																	52747336		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52747336T>C	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2873T>C	1.37:g.52747336T>C	ENSP00000360647:p.Val958Ala		Somatic				ZFYVE9_ENST00000357206.2_Missense_Mutation_p.V899A|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.V958A	p.V958A	NM_004799.2	NP_004790.2	WXS	Illumina GAIIx	Phase_I	O95405	ZFYV9_HUMAN			10	3045	+			958					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.2873T>C	CCDS563.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329044	0.81690	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.43688	1.04;0.94;0.94	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000002	T	0.49474	0.1559	L	0.50333	1.59	0.58432	D	0.999999	D;B	0.61697	0.99;0.131	P;B	0.58928	0.848;0.168	T	0.42032	-0.9475	10	0.07482	T	0.82	.	14.7338	0.69402	0.0:0.0:0.0:1.0	.	899;958	O95405-2;O95405	.;ZFYV9_HUMAN	A	899;958;958	ENSP00000349737:V899A;ENSP00000287727:V958A;ENSP00000360647:V958A	ENSP00000287727:V958A	V	+	2	0	ZFYVE9	52519924	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.757000	0.85209	2.062000	0.61559	0.482000	0.46254	GTG		0.373	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		9	124	0	0	0	1	0	9	124				
SPRY4	81848	broad.mit.edu	37	5	141694601	141694601	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:141694601G>A	ENST00000434127.2	-	2	316	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Missense_Mutation_p.R48W	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	25					multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.R48W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGACATCCGGCTGTCAAGA	0.602									Testicular Cancer, Familial Clustering of																													ENST00000344120.4																			1	Substitution - Missense(1)	p.R48W(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18						c.(142-144)Cgg>Tgg		sprouty homolog 4 (Drosophila)							28.0	29.0	29.0					5																	141694601		2158	4245	6403	SO:0001583	missense	81848	Testicular Cancer, Familial Clustering of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141694601G>A	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.73C>T	5.37:g.141694601G>A	ENSP00000399468:p.Arg25Trp		Somatic				SPRY4_ENST00000434127.2_Missense_Mutation_p.R25W	p.R48W	NM_030964.3	NP_112226.2	WXS	Illumina GAIIx	Phase_I	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	328	-		all_hematologic(541;0.118)	25					A4FVB2|A4FVB3|Q6QIX2|Q9C003	Missense_Mutation	SNP	ENST00000434127.2	37	c.142C>T	CCDS47296.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080686	0.55753	.	.	ENSG00000187678	ENST00000344120;ENST00000434127;ENST00000359661;ENST00000511815	T;T	0.75821	-0.97;-0.84	5.5	3.67	0.42095	.	0.000000	0.85682	D	0.000000	D	0.82314	0.5010	M	0.63843	1.955	0.58432	D	0.999999	D;B	0.89917	1.0;0.244	D;B	0.91635	0.999;0.033	T	0.81911	-0.0716	10	0.87932	D	0	-14.5982	9.8685	0.41160	0.0722:0.0:0.7838:0.144	.	25;25	Q9C004-2;Q9C004	.;SPY4_HUMAN	W	48;25;25;25	ENSP00000344967:R48W;ENSP00000399468:R25W	ENSP00000344967:R48W	R	-	1	2	SPRY4	141674785	1.000000	0.71417	0.979000	0.43373	0.983000	0.72400	5.238000	0.65366	0.648000	0.30732	0.561000	0.74099	CGG		0.602	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			37	49	0	0	0	1	0	37	49				
IMPG2	50939	broad.mit.edu	37	3	100949947	100949947	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:100949947A>G	ENST00000193391.7	-	16	3463	c.3276T>C	c.(3274-3276)tgT>tgC	p.C1092C		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1092	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CAAATTCCTCACAGTGCTTGC	0.488																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(3274-3276)tgT>tgC		interphotoreceptor matrix proteoglycan 2							255.0	218.0	231.0					3																	100949947		2203	4300	6503	SO:0001819	synonymous_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100949947A>G	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.3276T>C	3.37:g.100949947A>G			Somatic					p.C1092C	NM_016247.3	NP_057331.2	WXS	Illumina GAIIx	Phase_I	Q9BZV3	IMPG2_HUMAN			16	3463	-			1092			EGF-like 2.		A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	c.3276T>C	CCDS2940.1																																																																																				0.488	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			38	180	0	0	0	1	0	38	180				
MAP3K19	80122	broad.mit.edu	37	2	135744718	135744718	+	Missense_Mutation	SNP	G	G	A	rs373802326		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:135744718G>A	ENST00000375845.3	-	7	1754	c.1724C>T	c.(1723-1725)cCg>cTg	p.P575L	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P462L|MAP3K19_ENST00000392915.1_Missense_Mutation_p.P592L	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	575							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TCCCAAAGCCGGGAAAATTTG	0.433																																						ENST00000375845.3																			0											c.(1723-1725)cCg>cTg		mitogen-activated protein kinase kinase kinase 19		G	,LEU/PRO	0,4406		0,0,2203	80.0	84.0	82.0		,1724	4.9	0.8	2		82	2,8598	2.2+/-6.3	0,2,4298	no	intron,missense	YSK4	NM_001018046.1,NM_025052.3	,98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,probably-damaging	,575/1329	135744718	2,13004	2203	4300	6503	SO:0001583	missense	80122							g.chr2:135744718G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1724C>T	2.37:g.135744718G>A	ENSP00000365005:p.Pro575Leu		Somatic				MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P462L|MAP3K19_ENST00000392915.1_Missense_Mutation_p.P592L|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron	p.P575L	NM_025052.3	NP_079328.3	WXS	Illumina GAIIx	Phase_I					7	1754	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.1724C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832610	0.32421	0.0	2.33E-4	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	D;D;T	0.85556	-2.0;-1.85;0.2	5.81	4.92	0.64577	.	0.000000	0.49305	D	0.000143	D	0.89434	0.6714	L	0.47190	1.495	0.80722	D	1	D;D;D	0.89917	0.991;1.0;0.985	P;D;P	0.74023	0.691;0.982;0.494	D	0.90424	0.4419	10	0.87932	D	0	.	14.5967	0.68413	0.0:0.0:0.7343:0.2657	.	462;592;575	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	L	575;462;592	ENSP00000365005:P575L;ENSP00000351140:P462L;ENSP00000376647:P592L	ENSP00000351140:P462L	P	-	2	0	YSK4	135461188	1.000000	0.71417	0.826000	0.32828	0.082000	0.17680	4.194000	0.58393	1.427000	0.47276	0.655000	0.94253	CCG		0.433	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		27	69	0	0	0	1	0	27	69				
ZNF586	54807	broad.mit.edu	37	19	58290117	58290117	+	Splice_Site	SNP	A	A	T	rs552247667		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:58290117A>T	ENST00000396154.2	+	3	336		c.e3-1		ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000391702.3_Splice_Site|ZNF586_ENST00000396150.4_Splice_Site	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTTGCTTTTAGGTTGTTGGC	0.433																																						ENST00000391702.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15						c.e4-1		zinc finger protein 586							62.0	59.0	60.0					19																	58290117		2020	4209	6229	SO:0001630	splice_region_variant	54807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58290117A>T	AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.164-1A>T	19.37:g.58290117A>T			Somatic				ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000396150.4_Splice_Site|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396154.2_Splice_Site		NM_001204814.1	NP_001191743.1	WXS	Illumina GAIIx	Phase_I	Q9NXT0	ZN586_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	401	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)						A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Splice_Site	SNP	ENST00000396154.2	37		CCDS42640.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.589934	0.46214	.	.	ENSG00000083828	ENST00000449441;ENST00000391702;ENST00000396154;ENST00000396150	.	.	.	1.3	1.3	0.21679	.	.	.	.	.	.	.	.	.	.	.	0.25782	N	0.984717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.7647	0.13127	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF586	62981929	0.438000	0.25602	0.040000	0.18447	0.886000	0.51366	0.856000	0.27818	0.840000	0.34995	0.533000	0.62120	.		0.433	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2	NM_017652	Intron	6	163	0	0	0	1	0	6	163				
GSK3B	2932	broad.mit.edu	37	3	119624701	119624701	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:119624701T>A	ENST00000264235.8	-	7	1698		c.e7-2		GSK3B_ENST00000316626.5_Splice_Site	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta						axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	ACCATACATCTAAAGAGAAAA	0.373																																						ENST00000264235.8																			0				endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18						c.e7-2		glycogen synthase kinase 3 beta	Lithium(DB01356)						160.0	167.0	165.0					3																	119624701		2203	4300	6503	SO:0001630	splice_region_variant	2932				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding	g.chr3:119624701T>A	BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.716-2A>T	3.37:g.119624701T>A			Somatic				GSK3B_ENST00000316626.5_Splice_Site		NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	WXS	Illumina GAIIx	Phase_I	P49841	GSK3B_HUMAN		GBM - Glioblastoma multiforme(114;0.24)	7	1698	-								D3DN89|Q9BWH3|Q9UL47	Splice_Site	SNP	ENST00000264235.8	37		CCDS54628.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.246777	0.80024	.	.	ENSG00000082701	ENST00000264235;ENST00000316626	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6655	0.68904	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GSK3B	121107391	1.000000	0.71417	0.997000	0.53966	0.910000	0.53928	7.144000	0.77357	2.132000	0.65825	0.459000	0.35465	.		0.373	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2		Intron	6	245	0	0	0	1	0	6	245				
ZNF343	79175	broad.mit.edu	37	20	2463873	2463873	+	Silent	SNP	A	A	G	rs559067273		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:2463873A>G	ENST00000278772.4	-	6	2221	c.1734T>C	c.(1732-1734)gtT>gtC	p.V578V	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	578					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						ACTCCCTACAAACATAATGCT	0.517																																						ENST00000278772.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						c.(1732-1734)gtT>gtC		zinc finger protein 343							98.0	83.0	88.0					20																	2463873		2203	4300	6503	SO:0001819	synonymous_variant	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2463873A>G	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1734T>C	20.37:g.2463873A>G			Somatic				RP4-734P14.4_ENST00000461548.1_Intron	p.V578V	NM_024325.4	NP_077301.4	WXS	Illumina GAIIx	Phase_I	Q6P1L6	ZN343_HUMAN			6	2221	-			578					Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Silent	SNP	ENST00000278772.4	37	c.1734T>C	CCDS13028.1																																																																																				0.517	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		4	228	0	0	0	1	0	4	228				
SORBS2	8470	broad.mit.edu	37	4	186578723	186578723	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:186578723G>A	ENST00000284776.7	-	6	631	c.122C>T	c.(121-123)gCg>gTg	p.A41V	SORBS2_ENST00000319471.9_Missense_Mutation_p.A127V|SORBS2_ENST00000437304.2_Missense_Mutation_p.A220V|SORBS2_ENST00000393528.3_Missense_Mutation_p.A87V|SORBS2_ENST00000418609.1_5'Flank|SORBS2_ENST00000449407.2_Missense_Mutation_p.A127V|SORBS2_ENST00000355634.5_Missense_Mutation_p.A141V|SORBS2_ENST00000448662.2_Missense_Mutation_p.A110V|SORBS2_ENST00000498125.1_5'Flank|SORBS2_ENST00000431808.1_Missense_Mutation_p.A41V	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	41					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CAGAGACTGCGCATGCTGGGG	0.488																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(121-123)gCg>gTg		sorbin and SH3 domain containing 2							106.0	104.0	104.0					4																	186578723		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186578723G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.122C>T	4.37:g.186578723G>A	ENSP00000284776:p.Ala41Val		Somatic				SORBS2_ENST00000393528.3_Missense_Mutation_p.A87V|SORBS2_ENST00000355634.5_Missense_Mutation_p.A141V|SORBS2_ENST00000319471.9_Missense_Mutation_p.A127V|SORBS2_ENST00000284776.7_Missense_Mutation_p.A41V|SORBS2_ENST00000449407.2_Missense_Mutation_p.A127V|SORBS2_ENST00000448662.2_Missense_Mutation_p.A110V|SORBS2_ENST00000437304.2_Missense_Mutation_p.A220V	p.A41V			WXS	Illumina GAIIx	Phase_I	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	7	685	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	41					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.122C>T	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	4.329	0.060371	0.08339	.	.	ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454;ENST00000445343;ENST00000439914;ENST00000444771;ENST00000430503;ENST00000450341;ENST00000445115;ENST00000457247;ENST00000456596;ENST00000425679;ENST00000439049	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	4.88	2.18	0.27775	.	0.462954	0.24647	N	0.036760	T	0.12774	0.0310	N	0.12746	0.255	0.09310	N	0.999999	B;B;B;B;B;B;B;B;B;B;B;B	0.28258	0.003;0.029;0.007;0.009;0.007;0.003;0.002;0.205;0.003;0.014;0.003;0.029	B;B;B;B;B;B;B;B;B;B;B;B	0.22152	0.009;0.024;0.012;0.009;0.009;0.005;0.002;0.038;0.001;0.012;0.003;0.024	T	0.19549	-1.0302	10	0.22109	T	0.4	-5.1041	4.6064	0.12380	0.3154:0.0:0.5374:0.1472	.	104;87;110;87;141;41;127;220;110;87;41;87	B7Z3D7;G3XAI0;C9JKV9;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2	.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.	V	41;110;41;220;127;127;141;87;87;41;41;41;87;41;41;41;41;110;110	ENSP00000284776:A41V;ENSP00000409158:A110V;ENSP00000411764:A41V;ENSP00000396008:A220V;ENSP00000322182:A127V;ENSP00000397262:A127V;ENSP00000347852:A141V;ENSP00000377162:A87V;ENSP00000321983:A87V;ENSP00000399048:A41V;ENSP00000408909:A41V;ENSP00000410483:A41V;ENSP00000405349:A87V;ENSP00000415680:A41V;ENSP00000397664:A41V;ENSP00000398335:A41V;ENSP00000410967:A41V;ENSP00000415637:A110V;ENSP00000416464:A110V	ENSP00000284776:A41V	A	-	2	0	SORBS2	186815717	0.058000	0.20735	0.001000	0.08648	0.007000	0.05969	1.852000	0.39348	0.338000	0.23692	-0.222000	0.12452	GCG		0.488	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		3	93	0	0	0	1	0	3	93				
DEFB126	81623	broad.mit.edu	37	20	126245	126245	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:126245T>A	ENST00000382398.3	+	2	508	c.248T>A	c.(247-249)gTa>gAa	p.V83E	DEFB126_ENST00000542572.1_3'UTR	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	83					defense response to bacterium (GO:0042742)	cell surface (GO:0009986)|extracellular region (GO:0005576)|glycocalyx (GO:0030112)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			ATTTcaacagtaacagcaaca	0.463																																						ENST00000382398.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(247-249)gTa>gAa		defensin, beta 126							143.0	126.0	132.0					20																	126245		2203	4300	6503	SO:0001583	missense	81623				defense response to bacterium	extracellular region		g.chr20:126245T>A		CCDS12990.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125788	ENSG00000125788		"""Defensins, beta"""	15900	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 8"""	C20orf8		11854508	Standard	NM_030931		Approved	bA530N10.1, DEFB-26	uc002wcx.3	Q9BYW3	OTTHUMG00000031616	ENST00000382398.3:c.248T>A	20.37:g.126245T>A	ENSP00000371835:p.Val83Glu		Somatic				DEFB126_ENST00000542572.1_3'UTR	p.V83E	NM_030931.2	NP_112193.1	WXS	Illumina GAIIx	Phase_I	Q9BYW3	DB126_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	508	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	83					Q562G3|Q9H1M5	Missense_Mutation	SNP	ENST00000382398.3	37	c.248T>A	CCDS12990.1	.	.	.	.	.	.	.	.	.	.	T	0.126	-1.118939	0.01785	.	.	ENSG00000125788	ENST00000382398	T	0.39056	1.1	2.7	-5.39	0.02664	.	7.985960	0.00166	N	0.000017	T	0.17874	0.0429	N	0.19112	0.55	0.09310	N	1	D	0.54964	0.969	B	0.34385	0.181	T	0.38090	-0.9677	10	0.08381	T	0.77	2.1551	5.4295	0.16446	0.0:0.3333:0.3605:0.3062	.	83	Q9BYW3	DB126_HUMAN	E	83	ENSP00000371835:V83E	ENSP00000371835:V83E	V	+	2	0	DEFB126	74245	0.000000	0.05858	0.000000	0.03702	0.190000	0.23558	-6.772000	0.00054	-1.417000	0.02017	0.172000	0.16884	GTA		0.463	DEFB126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077428.2	NM_030931		6	346	0	0	0	1	0	6	346				
TCF12	6938	broad.mit.edu	37	15	57535668	57535668	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:57535668A>T	ENST00000267811.5	+	13	1339		c.e13-1		TCF12_ENST00000438423.2_Splice_Site|TCF12_ENST00000560764.1_Splice_Site|TCF12_ENST00000452095.2_Splice_Site|TCF12_ENST00000557843.1_Splice_Site|TCF12_ENST00000333725.5_Splice_Site|TCF12_ENST00000543579.1_Splice_Site|TCF12_ENST00000343827.3_Splice_Site|TCF12_ENST00000537840.1_Splice_Site	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TTTTCTGGTTAGATTTATTCT	0.383			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.e13-1		transcription factor 12							173.0	152.0	160.0					15																	57535668		2192	4292	6484	SO:0001630	splice_region_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57535668A>T	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1036-1A>T	15.37:g.57535668A>T			Somatic				TCF12_ENST00000343827.3_Splice_Site|TCF12_ENST00000557843.1_Splice_Site|TCF12_ENST00000438423.2_Splice_Site|TCF12_ENST00000452095.2_Splice_Site|TCF12_ENST00000543579.1_Splice_Site|TCF12_ENST00000537840.1_Splice_Site|TCF12_ENST00000560764.1_Splice_Site|TCF12_ENST00000333725.5_Splice_Site		NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	WXS	Illumina GAIIx	Phase_I	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	13	1339	+		Colorectal(260;0.0907)						Q7Z3D9|Q86TC1|Q86VM2	Splice_Site	SNP	ENST00000267811.5	37		CCDS10159.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.159471	0.78226	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7059	0.77580	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TCF12	55322960	1.000000	0.71417	0.988000	0.46212	0.813000	0.45954	9.058000	0.93896	2.126000	0.65437	0.459000	0.35465	.		0.383	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205	Intron	7	193	0	0	0	1	0	7	193				
PHF3	23469	broad.mit.edu	37	6	64389899	64389899	+	Splice_Site	SNP	A	A	T	rs200623505		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:64389899A>T	ENST00000262043.3	+	3	584		c.e3-1		PHF3_ENST00000393387.1_Splice_Site|PHF3_ENST00000509330.1_Splice_Site			Q92576	PHF3_HUMAN	PHD finger protein 3						multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTTTTTTTCTAGTTGTTGGTC	0.308																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.e3-1		PHD finger protein 3							84.0	85.0	84.0					6																	64389899		2203	4300	6503	SO:0001630	splice_region_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64389899A>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.245-1A>T	6.37:g.64389899A>T			Somatic				PHF3_ENST00000393387.1_Splice_Site|PHF3_ENST00000509330.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		3	584	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)							A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Splice_Site	SNP	ENST00000262043.3	37		CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	17.36	3.369739	0.61624	.	.	ENSG00000118482	ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	.	.	.	5.87	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0911	0.48117	0.9279:0.0:0.0721:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHF3	64447858	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.923000	0.63412	1.053000	0.40415	0.482000	0.46254	.		0.308	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		Intron	5	130	0	0	0	1	0	5	130				
KATNA1	11104	broad.mit.edu	37	6	149959698	149959698	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:149959698T>A	ENST00000335643.8	-	2	267		c.e2-2		KATNA1_ENST00000367411.2_Splice_Site|KATNA1_ENST00000335647.5_5'UTR	NM_001204076.1	NP_001191005.1			katanin p60 (ATPase containing) subunit A 1											endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AACTGTAAGCTAAAAAGAAGA	0.323																																						ENST00000367411.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12						c.e2-2		katanin p60 (ATPase containing) subunit A 1							99.0	103.0	102.0					6																	149959698		2203	4299	6502	SO:0001630	splice_region_variant	11104				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity	g.chr6:149959698T>A	AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335643.8:c.13-2A>T	6.37:g.149959698T>A			Somatic				KATNA1_ENST00000335643.8_Splice_Site|KATNA1_ENST00000335647.5_5'UTR		NM_007044.3	NP_008975.1	WXS	Illumina GAIIx	Phase_I	O75449	KTNA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)	2	246	-		Ovarian(120;0.0164)							Splice_Site	SNP	ENST00000335643.8	37		CCDS56456.1																																																																																				0.323	KATNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000105344.1	NM_007044	Intron	4	132	0	0	0	1	0	4	132				
TMEM71	137835	broad.mit.edu	37	8	133764245	133764245	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:133764245T>A	ENST00000356838.3	-	4	244		c.e4-2		TMEM71_ENST00000517538.1_Splice_Site|TMEM71_ENST00000377901.4_Splice_Site|TMEM71_ENST00000523829.1_Splice_Site	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71							integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CAGGTGAAACTAAGAAGGAAA	0.438																																						ENST00000356838.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.e4-2		transmembrane protein 71							48.0	48.0	48.0					8																	133764245		2203	4300	6503	SO:0001630	splice_region_variant	137835					integral to membrane		g.chr8:133764245T>A	AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.102-2A>T	8.37:g.133764245T>A			Somatic				TMEM71_ENST00000377901.4_Splice_Site|TMEM71_ENST00000517538.1_Splice_Site|TMEM71_ENST00000523829.1_Splice_Site		NM_144649.2	NP_653250.2	WXS	Illumina GAIIx	Phase_I	Q6P5X7	TMM71_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		4	244	-	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)							Q3KRC2|Q8WVZ4|Q96LX9	Splice_Site	SNP	ENST00000356838.3	37		CCDS6366.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.184224	0.38609	.	.	ENSG00000165071	ENST00000523829;ENST00000356838;ENST00000377901;ENST00000519187;ENST00000519304	.	.	.	5.8	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9621	0.41701	0.0:0.0765:0.0:0.9235	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM71	133833427	1.000000	0.71417	0.050000	0.19076	0.108000	0.19459	3.155000	0.50700	1.014000	0.39417	0.528000	0.53228	.		0.438	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649	Intron	5	122	0	0	0	1	0	5	122				
NKTR	4820	broad.mit.edu	37	3	42680994	42680994	+	Silent	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:42680994T>A	ENST00000232978.8	+	13	3986	c.3798T>A	c.(3796-3798)atT>atA	p.I1266I	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1266					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAATAGAAATTAAAAGCAAAA	0.443																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(3796-3798)atT>atA		natural killer-tumor recognition sequence							82.0	88.0	86.0					3																	42680994		2203	4300	6503	SO:0001819	synonymous_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42680994T>A		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3798T>A	3.37:g.42680994T>A			Somatic				RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.I1266I	NM_005385.3	NP_005376.2	WXS	Illumina GAIIx	Phase_I	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	3986	+			1266						Silent	SNP	ENST00000232978.8	37	c.3798T>A	CCDS2702.1																																																																																				0.443	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		5	89	0	0	0	1	0	5	89				
DENND5A	23258	broad.mit.edu	37	11	9200622	9200622	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:9200622T>A	ENST00000328194.3	-	7	1776		c.e7-2		DENND5A_ENST00000530044.1_Splice_Site|DENND5A_ENST00000526523.1_5'Flank	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A						positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CACTTCCAACTACAAAAAAAG	0.368																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.e7-2		DENN/MADD domain containing 5A							92.0	84.0	87.0					11																	9200622		2201	4296	6497	SO:0001630	splice_region_variant	23258							g.chr11:9200622T>A	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.1456-2A>T	11.37:g.9200622T>A			Somatic				DENND5A_ENST00000530044.1_Splice_Site		NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	WXS	Illumina GAIIx	Phase_I	Q6IQ26	DEN5A_HUMAN			7	1776	-								B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Splice_Site	SNP	ENST00000328194.3	37		CCDS31423.1	.	.	.	.	.	.	.	.	.	.	T	13.40	2.224546	0.39300	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6215	0.68588	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DENND5A	9157198	1.000000	0.71417	0.961000	0.40146	0.404000	0.30871	7.908000	0.87438	1.903000	0.55091	0.533000	0.62120	.		0.368	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213	Intron	5	109	0	0	0	1	0	5	109				
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:183495729A>T	ENST00000347615.2	+	5	431		c.e5-1		SMG7_ENST00000367537.3_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000508461.1_Splice_Site	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTTTTCTTTTAGTTATTACAA	0.333																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.e6-1		SMG7 nonsense mediated mRNA decay factor							70.0	75.0	74.0					1																	183495729		2203	4300	6503	SO:0001630	splice_region_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183495729A>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.313-1A>T	1.37:g.183495729A>T			Somatic				SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000347615.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q92540	SMG7_HUMAN			6	594	+								B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Splice_Site	SNP	ENST00000347615.2	37		CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464105	0.63513	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1025	0.81194	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMG7	181762352	1.000000	0.71417	0.974000	0.42286	0.892000	0.51952	8.638000	0.91019	2.254000	0.74563	0.533000	0.62120	.		0.333	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837	Intron	16	111	0	0	0	1	0	16	111				
OTUD5	55593	broad.mit.edu	37	X	48792084	48792084	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:48792084A>T	ENST00000156084.4	-	4	870	c.810T>A	c.(808-810)atT>atA	p.I270I	OTUD5_ENST00000376488.3_Silent_p.I270I|OTUD5_ENST00000428668.2_Silent_p.I53I|OTUD5_ENST00000484499.1_5'UTR|OTUD5_ENST00000396743.3_Silent_p.I270I	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	270	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						GCTTCCTGTTAATGTAGGTGG	0.463																																						ENST00000156084.4																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						c.(808-810)atT>atA		OTU domain containing 5							237.0	196.0	210.0					X																	48792084		2203	4300	6503	SO:0001819	synonymous_variant	55593				negative regulation of type I interferon production		cysteine-type peptidase activity	g.chrX:48792084A>T		CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"""OTU domain containing"""	25402	protein-coding gene	gene with protein product		300713	"""OTU domain containing 5"""			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.810T>A	X.37:g.48792084A>T			Somatic				OTUD5_ENST00000428668.2_Silent_p.I53I|OTUD5_ENST00000376488.3_Silent_p.I270I|OTUD5_ENST00000484499.1_5'UTR|OTUD5_ENST00000396743.3_Silent_p.I270I	p.I270I	NM_017602.3	NP_060072.1	WXS	Illumina GAIIx	Phase_I	Q96G74	OTUD5_HUMAN			4	870	-			270			OTU.		B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Silent	SNP	ENST00000156084.4	37	c.810T>A	CCDS14313.1																																																																																				0.463	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000060799.1	NM_017602		10	798	0	0	0	1	0	10	798				
SLC39A14	23516	broad.mit.edu	37	8	22273349	22273349	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:22273349T>G	ENST00000381237.1	+	6	937	c.818T>G	c.(817-819)gTg>gGg	p.V273G	SLC39A14_ENST00000240095.6_Missense_Mutation_p.V273G|SLC39A14_ENST00000289952.5_Missense_Mutation_p.V273G|SLC39A14_ENST00000359741.5_Missense_Mutation_p.V273G	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	273					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GAGGAGGGGGTGATGGAGAAG	0.577																																						ENST00000359741.5																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12						c.(817-819)gTg>gGg		solute carrier family 39 (zinc transporter), member 14							104.0	87.0	93.0					8																	22273349		2203	4300	6503	SO:0001583	missense	23516					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	g.chr8:22273349T>G	D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"""Solute carriers"""	20858	protein-coding gene	gene with protein product		608736	"""solute carrier family 39 (metal ion transporter), member 14"""			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.818T>G	8.37:g.22273349T>G	ENSP00000370635:p.Val273Gly		Somatic				SLC39A14_ENST00000240095.6_Missense_Mutation_p.V273G|SLC39A14_ENST00000289952.5_Missense_Mutation_p.V273G|SLC39A14_ENST00000381237.1_Missense_Mutation_p.V273G	p.V273G	NM_015359.4	NP_056174.2	WXS	Illumina GAIIx	Phase_I	Q15043	S39AE_HUMAN		Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)	6	993	+			273					A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Missense_Mutation	SNP	ENST00000381237.1	37	c.818T>G	CCDS47823.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546883	0.45383	.	.	ENSG00000104635	ENST00000359741;ENST00000240095;ENST00000381237;ENST00000289952;ENST00000517370	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.88	5.88	0.94601	.	0.667665	0.15765	N	0.245722	T	0.35566	0.0936	L	0.29908	0.895	0.80722	D	1	B;P;B	0.41524	0.23;0.753;0.383	B;B;B	0.35859	0.173;0.212;0.143	T	0.12502	-1.0545	10	0.21540	T	0.41	-25.8356	15.2834	0.73806	0.0:0.0:0.0:1.0	.	273;273;273	Q15043-2;Q15043;B6EU88	.;S39AE_HUMAN;.	G	273;273;273;273;96	ENSP00000352779:V273G;ENSP00000240095:V273G;ENSP00000370635:V273G;ENSP00000289952:V273G;ENSP00000427981:V96G	ENSP00000240095:V273G	V	+	2	0	SLC39A14	22329294	1.000000	0.71417	0.697000	0.30258	0.700000	0.40528	5.473000	0.66774	2.246000	0.74042	0.533000	0.62120	GTG		0.577	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677		11	219	0	0	0	1	0	11	219				
FN1	2335	broad.mit.edu	37	2	216298131	216298131	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:216298131T>G	ENST00000359671.1	-	3	596	c.331A>C	c.(331-333)Act>Cct	p.T111P	FN1_ENST00000446046.1_Missense_Mutation_p.T111P|FN1_ENST00000336916.4_Missense_Mutation_p.T111P|FN1_ENST00000346544.3_Missense_Mutation_p.T111P|FN1_ENST00000357009.2_Missense_Mutation_p.T111P|FN1_ENST00000421182.1_Missense_Mutation_p.T111P|FN1_ENST00000345488.5_Missense_Mutation_p.T111P|FN1_ENST00000357867.4_Missense_Mutation_p.T111P|FN1_ENST00000443816.1_Missense_Mutation_p.T111P|FN1_ENST00000323926.6_Missense_Mutation_p.T111P|FN1_ENST00000356005.4_Missense_Mutation_p.T111P|FN1_ENST00000354785.4_Missense_Mutation_p.T111P|AC012462.1_ENST00000412951.1_RNA|FN1_ENST00000432072.2_Missense_Mutation_p.T111P|FN1_ENST00000426059.1_Missense_Mutation_p.T111P			P02751	FINC_HUMAN	fibronectin 1	111	Fibrin- and heparin-binding 1.|Fibronectin type-I 2. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CGCTCATAAGTGTCACCCACT	0.498																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(331-333)Act>Cct		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						146.0	123.0	130.0					2																	216298131		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216298131T>G		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.331A>C	2.37:g.216298131T>G	ENSP00000352696:p.Thr111Pro		Somatic				FN1_ENST00000446046.1_Missense_Mutation_p.T111P|FN1_ENST00000443816.1_Missense_Mutation_p.T111P|FN1_ENST00000323926.6_Missense_Mutation_p.T111P|FN1_ENST00000432072.2_Missense_Mutation_p.T111P|FN1_ENST00000421182.1_Missense_Mutation_p.T111P|FN1_ENST00000359671.1_Missense_Mutation_p.T111P|FN1_ENST00000357867.4_Missense_Mutation_p.T111P|FN1_ENST00000357009.2_Missense_Mutation_p.T111P|FN1_ENST00000356005.4_Missense_Mutation_p.T111P|FN1_ENST00000346544.3_Missense_Mutation_p.T111P|FN1_ENST00000345488.5_Missense_Mutation_p.T111P|FN1_ENST00000336916.4_Missense_Mutation_p.T111P|FN1_ENST00000426059.1_Missense_Mutation_p.T111P	p.T111P			WXS	Illumina GAIIx	Phase_I	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	3	700	-		Renal(323;0.127)	111			Fibrin- and heparin-binding 1.|Fibronectin type-I 2.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.331A>C		.	.	.	.	.	.	.	.	.	.	T	33	5.211540	0.95069	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	T	0.68238	0.2979	M	0.68952	2.095	0.80722	D	1	D;D;D;B;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.995;0.053;1.0;1.0;1.0;0.999;1.0;1.0;0.998	D;D;D;B;D;D;D;D;D;D;D	0.97110	1.0;0.998;0.97;0.075;0.984;0.99;1.0;0.972;0.984;0.984;0.998	T	0.70568	-0.4836	10	0.72032	D	0.01	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	111;111;111;111;111;111;111;111;111;111;111	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	P	111	ENSP00000394423:T111P;ENSP00000323534:T111P;ENSP00000338200:T111P;ENSP00000350534:T111P;ENSP00000346839:T111P;ENSP00000352696:T111P;ENSP00000265312:T111P;ENSP00000273049:T111P;ENSP00000349509:T111P;ENSP00000410422:T111P;ENSP00000415018:T111P;ENSP00000399538:T111P;ENSP00000348285:T111P;ENSP00000398907:T111P	ENSP00000265313:T111P	T	-	1	0	FN1	216006376	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.662000	0.83803	2.326000	0.78906	0.533000	0.62120	ACT		0.498	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		28	170	0	0	0	1	0	28	170				
ADAMTS19	171019	broad.mit.edu	37	5	128863439	128863439	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:128863439A>T	ENST00000274487.4	+	5	1213		c.e5-1		CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATTTGTTTTTAGGTATTTAAC	0.328																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.e5-1		ADAM metallopeptidase with thrombospondin type 1 motif, 19							51.0	54.0	53.0					5																	128863439		2202	4299	6501	SO:0001630	splice_region_variant	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128863439A>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1069-1A>T	5.37:g.128863439A>T			Somatic				CTC-575N7.1_ENST00000503616.1_RNA		NM_133638.3	NP_598377.3	WXS	Illumina GAIIx	Phase_I	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	5	1213	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)							Splice_Site	SNP	ENST00000274487.4	37		CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.954233	0.53293	.	.	ENSG00000145808	ENST00000274487	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8637	0.46842	0.9217:0.0:0.0783:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAMTS19	128891338	1.000000	0.71417	0.998000	0.56505	0.833000	0.47200	4.950000	0.63603	2.209000	0.71365	0.460000	0.39030	.		0.328	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	Intron	5	31	0	0	0	1	0	5	31				
LGSN	51557	broad.mit.edu	37	6	63990712	63990712	+	Nonsense_Mutation	SNP	A	A	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:63990712A>C	ENST00000370657.4	-	4	777	c.744T>G	c.(742-744)taT>taG	p.Y248*	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	248					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTCCAGTGTGATACAAGCCAT	0.403																																						ENST00000370657.4																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(742-744)taT>taG		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						48.0	43.0	44.0					6																	63990712		2203	4300	6503	SO:0001587	stop_gained	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990712A>C	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.744T>G	6.37:g.63990712A>C	ENSP00000359691:p.Tyr248*		Somatic				LGSN_ENST00000370658.5_Intron	p.Y248*			WXS	Illumina GAIIx	Phase_I	Q5TDP6	LGSN_HUMAN			4	777	-			248					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Nonsense_Mutation	SNP	ENST00000370657.4	37	c.744T>G	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.255188	0.22965	.	.	ENSG00000146166	ENST00000370657	.	.	.	5.17	-0.234	0.13074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-17.588	5.5683	0.17182	0.6465:0.1337:0.2199:0.0	.	.	.	.	X	248	.	ENSP00000359691:Y248X	Y	-	3	2	LGSN	64048671	1.000000	0.71417	0.956000	0.39512	0.030000	0.12068	2.853000	0.48317	-0.189000	0.10482	-0.256000	0.11100	TAT		0.403	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		14	51	0	0	0	1	0	14	51				
ANKRD42	338699	broad.mit.edu	37	11	82935895	82935895	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:82935895A>T	ENST00000393392.2	+	6	664		c.e6-1		ANKRD42_ENST00000533342.1_Splice_Site|ANKRD42_ENST00000260047.6_Splice_Site|ANKRD42_ENST00000531895.1_Splice_Site	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42						positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						CCTTTCCTCTAGTTCACTTAG	0.333																																						ENST00000260047.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.e6-1		ankyrin repeat domain 42							53.0	53.0	53.0					11																	82935895		2203	4300	6503	SO:0001630	splice_region_variant	338699							g.chr11:82935895A>T	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.503-1A>T	11.37:g.82935895A>T			Somatic				ANKRD42_ENST00000393392.2_Splice_Site|ANKRD42_ENST00000533342.1_Splice_Site|ANKRD42_ENST00000531895.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8N9B4	ANR42_HUMAN			6	1378	+								Q49A49	Splice_Site	SNP	ENST00000393392.2	37		CCDS8265.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.727243	0.69074	.	.	ENSG00000137494	ENST00000545672;ENST00000260047;ENST00000531895;ENST00000393392;ENST00000533342	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8967	0.70649	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKRD42	82613543	1.000000	0.71417	0.994000	0.49952	0.854000	0.48673	6.289000	0.72696	2.154000	0.67381	0.533000	0.62120	.		0.333	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603	Intron	8	191	0	0	0	1	0	8	191				
MSH2	4436	broad.mit.edu	37	2	47693859	47693859	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:47693859G>C	ENST00000233146.2	+	10	1796	c.1573G>C	c.(1573-1575)Gta>Cta	p.V525L	MSH2_ENST00000543555.1_Missense_Mutation_p.V459L|MSH2_ENST00000406134.1_Missense_Mutation_p.V525L	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	525					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTACTTTCGTGTAACCTGTAA	0.353			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000406134.1			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"""D, Mis, N, F, S"""	mutS homolog 2 (E. coli)			E		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		4	Whole gene deletion(2)|Unknown(2)	p.0?(2)|p.?(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112						c.(1573-1575)Gta>Cta	Mismatch excision repair (MMR)	mutS homolog 2							92.0	98.0	96.0					2																	47693859		2203	4300	6503	SO:0001583	missense	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47693859G>C	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1573G>C	2.37:g.47693859G>C	ENSP00000233146:p.Val525Leu		Somatic				MSH2_ENST00000543555.1_Missense_Mutation_p.V459L|MSH2_ENST00000233146.2_Missense_Mutation_p.V525L	p.V525L			WXS	Illumina GAIIx	Phase_I	P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1635	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	525					B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	c.1573G>C	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	G	9.154	1.016936	0.19355	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000413880	D;D;D	0.91996	-2.95;-2.95;-2.95	6.04	6.04	0.98038	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.053861	0.64402	D	0.000001	D	0.86058	0.5842	L	0.39566	1.225	0.58432	D	0.999999	B;P;B	0.42620	0.315;0.785;0.039	B;B;B	0.39465	0.225;0.3;0.26	D	0.83751	0.0209	10	0.02654	T	1	-22.8671	13.2611	0.60106	0.1114:0.0:0.8885:0.0	.	459;525;525	B4E2Z2;E9PHA6;P43246	.;.;MSH2_HUMAN	L	525;459;525;525;525;311	ENSP00000233146:V525L;ENSP00000442697:V459L;ENSP00000384199:V525L	ENSP00000233146:V525L	V	+	1	0	MSH2	47547363	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.699000	0.68310	2.873000	0.98535	0.563000	0.77884	GTA		0.353	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			6	165	0	0	0	1	0	6	165				
MYH15	22989	broad.mit.edu	37	3	108147573	108147573	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:108147573A>T	ENST00000273353.3	-	28	3584	c.3528T>A	c.(3526-3528)acT>acA	p.T1176T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1176						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTGTTTCTTAGTTATTTCCA	0.493																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(3526-3528)acT>acA		myosin, heavy chain 15							156.0	150.0	152.0					3																	108147573		1946	4152	6098	SO:0001819	synonymous_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108147573A>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3528T>A	3.37:g.108147573A>T			Somatic					p.T1176T	NM_014981.1	NP_055796.1	WXS	Illumina GAIIx	Phase_I	Q9Y2K3	MYH15_HUMAN			28	3584	-			1176						Silent	SNP	ENST00000273353.3	37	c.3528T>A	CCDS43127.1																																																																																				0.493	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		12	335	0	0	0	1	0	12	335				
CHST10	9486	broad.mit.edu	37	2	101014489	101014489	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:101014489G>C	ENST00000264249.3	-	5	693	c.308C>G	c.(307-309)aCt>aGt	p.T103S	CHST10_ENST00000409701.1_Missense_Mutation_p.T103S|CHST10_ENST00000542617.1_Missense_Mutation_p.T151S	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	103					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GGAGACAGGAGTGTGCGAGAG	0.517																																						ENST00000264249.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(307-309)aCt>aGt		carbohydrate sulfotransferase 10							145.0	144.0	145.0					2																	101014489		2203	4300	6503	SO:0001583	missense	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101014489G>C	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.308C>G	2.37:g.101014489G>C	ENSP00000264249:p.Thr103Ser		Somatic				CHST10_ENST00000542617.1_Missense_Mutation_p.T151S|CHST10_ENST00000409701.1_Missense_Mutation_p.T103S	p.T103S	NM_004854.4	NP_004845.1	WXS	Illumina GAIIx	Phase_I	O43529	CHSTA_HUMAN			5	693	-			103					Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	c.308C>G	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.259274	0.59321	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701;ENST00000409046;ENST00000420858	T;T;T;T;T	0.69806	-0.4;-0.43;-0.4;0.96;0.9	5.69	5.69	0.88448	.	0.230818	0.44688	D	0.000426	T	0.61565	0.2357	M	0.65498	2.005	0.48341	D	0.999632	P	0.35077	0.483	B	0.24974	0.057	T	0.62181	-0.6908	10	0.08837	T	0.75	-22.8906	19.812	0.96551	0.0:0.0:1.0:0.0	.	103	O43529	CHSTA_HUMAN	S	103;151;103;103;103	ENSP00000264249:T103S;ENSP00000438869:T151S;ENSP00000387309:T103S;ENSP00000387121:T103S;ENSP00000405922:T103S	ENSP00000264249:T103S	T	-	2	0	CHST10	100380921	1.000000	0.71417	0.903000	0.35520	0.939000	0.58152	6.198000	0.72106	2.685000	0.91497	0.655000	0.94253	ACT		0.517	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		6	437	0	0	0	1	0	6	437				
ELOVL5	60481	broad.mit.edu	37	6	53141056	53141056	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:53141056T>A	ENST00000542638.1	-	4	694		c.e4-2		ELOVL5_ENST00000541407.1_Splice_Site|MIR5685_ENST00000579080.1_RNA|ELOVL5_ENST00000370918.4_Splice_Site|ELOVL5_ENST00000486973.1_Splice_Site|ELOVL5_ENST00000304434.6_Splice_Site			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5						alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TGTTACTAACTAAAAAAGAAG	0.413																																						ENST00000542638.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.e4-2		ELOVL fatty acid elongase 5							76.0	68.0	71.0					6																	53141056		2203	4300	6503	SO:0001630	splice_region_variant	60481				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:53141056T>A	AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.247-2A>T	6.37:g.53141056T>A			Somatic				ELOVL5_ENST00000486973.1_Splice_Site|ELOVL5_ENST00000370918.4_Splice_Site|ELOVL5_ENST00000541407.1_Splice_Site|ELOVL5_ENST00000304434.6_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9NYP7	ELOV5_HUMAN			4	694	-	Lung NSC(77;0.116)							B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Splice_Site	SNP	ENST00000542638.1	37		CCDS4951.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.380292	0.82682	.	.	ENSG00000012660	ENST00000370918;ENST00000304434;ENST00000542638;ENST00000541407	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5655	0.84588	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELOVL5	53249015	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	7.342000	0.79310	2.302000	0.77476	0.533000	0.62120	.		0.413	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1	NM_021814	Intron	5	90	0	0	0	1	0	5	90				
KIF25	3834	broad.mit.edu	37	6	168440859	168440859	+	Silent	SNP	G	G	A	rs147571413	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:168440859G>A	ENST00000443060.2	+	7	1000	c.609G>A	c.(607-609)acG>acA	p.T203T	KIF25_ENST00000351261.3_Silent_p.T203T|KIF25_ENST00000354419.2_Silent_p.T203T			Q9UIL4	KIF25_HUMAN	kinesin family member 25	203	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TGATAATTACGGTGACTCTAA	0.512																																						ENST00000443060.2																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(607-609)acG>acA		kinesin family member 25							73.0	62.0	66.0					6																	168440859		2203	4300	6503	SO:0001819	synonymous_variant	3834				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168440859G>A	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.609G>A	6.37:g.168440859G>A			Somatic				KIF25_ENST00000354419.2_Silent_p.T203T|KIF25_ENST00000351261.3_Silent_p.T203T	p.T203T			WXS	Illumina GAIIx	Phase_I	Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	7	1000	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	203			Kinesin-motor.		O94775|Q5SZU9	Silent	SNP	ENST00000443060.2	37	c.609G>A	CCDS5305.1																																																																																				0.512	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			5	30	0	0	0	1	0	5	30				
MMP8	4317	broad.mit.edu	37	11	102584483	102584483	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:102584483A>T	ENST00000236826.3	-	9	1393		c.e9+1			NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)						collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	TTTCCTACTTACGTTCTTGCT	0.393																																						ENST00000236826.3																			0				autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32						c.e9+1		matrix metallopeptidase 8 (neutrophil collagenase)							148.0	146.0	147.0					11																	102584483		2203	4299	6502	SO:0001630	splice_region_variant	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102584483A>T	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.1294+1T>A	11.37:g.102584483A>T			Somatic						NM_002424.2	NP_002415.1	WXS	Illumina GAIIx	Phase_I	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	9	1393	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						Q45F99	Splice_Site	SNP	ENST00000236826.3	37		CCDS8320.1	.	.	.	.	.	.	.	.	.	.	A	8.692	0.907551	0.17833	.	.	ENSG00000118113	ENST00000236826;ENST00000544383	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.192	0.54277	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MMP8	102089693	1.000000	0.71417	0.986000	0.45419	0.044000	0.14063	4.492000	0.60334	1.899000	0.54978	0.460000	0.39030	.		0.393	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424	Intron	6	174	0	0	0	1	0	6	174				
TEP1	7011	broad.mit.edu	37	14	20837555	20837555	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:20837555G>T	ENST00000262715.5	-	53	7644	c.7604C>A	c.(7603-7605)gCc>gAc	p.A2535D	TEP1_ENST00000556935.1_Missense_Mutation_p.A2427D	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2535					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ATCCATGCTGGCATCACTATC	0.507																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(7603-7605)gCc>gAc		telomerase-associated protein 1							201.0	174.0	183.0					14																	20837555		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20837555G>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.7604C>A	14.37:g.20837555G>T	ENSP00000262715:p.Ala2535Asp		Somatic				TEP1_ENST00000556935.1_Missense_Mutation_p.A2427D	p.A2535D	NM_007110.4	NP_009041.2	WXS	Illumina GAIIx	Phase_I	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	53	7644	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2535					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.7604C>A	CCDS9548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.018|0.018	-1.475709|-1.475709	0.01035|0.01035	.|.	.|.	ENSG00000129566|ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935|ENST00000553984	T;T|.	0.49139|.	0.83;0.79|.	0.0465|0.0465	0.0465|0.0465	0.14256|0.14256	.|.	0.277804|.	0.13023|.	U|.	0.419909|.	T|.	0.15869|.	0.0382|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P;B;B|.	0.51449|.	0.945;0.0;0.0|.	P;B;B|.	0.57425|.	0.82;0.0;0.0|.	T|.	0.29119|.	-1.0022|.	9|.	0.19147|.	T|.	0.46|.	.|.	.|.	.|.	.|.	.|.	2427;1878;2535|.	G3V5X7;G3V2A4;Q99973|.	.;.;TEP1_HUMAN|.	D|X	2535;2527;2427|191	ENSP00000262715:A2535D;ENSP00000452574:A2427D|.	ENSP00000262715:A2535D|.	A|C	-|-	2|3	0|2	TEP1|TEP1	19907395|19907395	0.012000|0.012000	0.17670|0.17670	0.011000|0.011000	0.14972|0.14972	0.012000|0.012000	0.07955|0.07955	0.170000|0.170000	0.16663|0.16663	0.132000|0.132000	0.18615|0.18615	0.134000|0.134000	0.15878|0.15878	GCC|TGC		0.507	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		4	225	1	0	0.000602214	1	0.000617856	4	225				
TRAM1L1	133022	broad.mit.edu	37	4	118005505	118005505	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:118005505C>T	ENST00000310754.4	-	1	1231	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	349					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.G349*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						ACTCCCACTCCGTTTTCTGTT	0.393																																						ENST00000310754.4																			1	Substitution - Nonsense(1)	p.G349*(1)	lung(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1045-1047)Gga>Aga		translocation associated membrane protein 1-like 1							158.0	163.0	162.0					4																	118005505		2203	4300	6503	SO:0001583	missense	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118005505C>T	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.1045G>A	4.37:g.118005505C>T	ENSP00000309402:p.Gly349Arg		Somatic					p.G349R	NM_152402.2	NP_689615.2	WXS	Illumina GAIIx	Phase_I	Q8N609	TR1L1_HUMAN			1	1231	-			349					Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	c.1045G>A	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904230	0.72754	.	.	ENSG00000174599	ENST00000310754	T	0.50277	0.75	3.74	3.74	0.42951	.	1.517220	0.03495	N	0.217232	T	0.59636	0.2208	N	0.24115	0.695	0.52501	D	0.999957	D	0.89917	1.0	D	0.72075	0.976	T	0.52487	-0.8569	10	0.54805	T	0.06	-16.9383	13.8494	0.63487	0.0:1.0:0.0:0.0	.	349	Q8N609	TR1L1_HUMAN	R	349	ENSP00000309402:G349R	ENSP00000309402:G349R	G	-	1	0	TRAM1L1	118224953	0.712000	0.27916	0.838000	0.33150	0.891000	0.51852	2.593000	0.46180	2.385000	0.81259	0.650000	0.86243	GGA		0.393	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		64	171	0	0	0	1	0	64	171				
TTC37	9652	broad.mit.edu	37	5	94861313	94861313	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:94861313C>T	ENST00000358746.2	-	14	1497	c.1199G>A	c.(1198-1200)gGt>gAt	p.G400D		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	400						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATCAAATGAACCTTTGTTCCG	0.343																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(1198-1200)gGt>gAt		tetratricopeptide repeat domain 37							140.0	159.0	153.0					5																	94861313		2202	4300	6502	SO:0001583	missense	9652						binding	g.chr5:94861313C>T	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.1199G>A	5.37:g.94861313C>T	ENSP00000351596:p.Gly400Asp		Somatic					p.G400D	NM_014639.3	NP_055454.1	WXS	Illumina GAIIx	Phase_I	Q6PGP7	TTC37_HUMAN			14	1497	-			400					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.1199G>A	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935729	0.52972	.	.	ENSG00000198677	ENST00000358746;ENST00000514952	T;T	0.81247	-1.28;-1.47	5.82	4.95	0.65309	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.84862	0.5566	L	0.36672	1.1	0.58432	D	0.999999	D;P	0.89917	1.0;0.868	D;P	0.85130	0.997;0.57	D	0.85691	0.1307	10	0.52906	T	0.07	.	14.885	0.70560	0.0:0.9314:0.0:0.0686	.	352;400	D6RCE2;Q6PGP7	.;TTC37_HUMAN	D	400;352	ENSP00000351596:G400D;ENSP00000423742:G352D	ENSP00000351596:G400D	G	-	2	0	TTC37	94887069	1.000000	0.71417	0.911000	0.35937	0.128000	0.20619	3.757000	0.55212	1.470000	0.48102	0.655000	0.94253	GGT		0.343	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		8	388	0	0	0	1	0	8	388				
MAGI2	9863	broad.mit.edu	37	7	77797325	77797325	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr7:77797325C>T	ENST00000354212.4	-	15	2757	c.2504G>A	c.(2503-2505)gGc>gAc	p.G835D	MAGI2_ENST00000522391.1_Missense_Mutation_p.G835D|MAGI2_ENST00000419488.1_Missense_Mutation_p.G821D	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	835	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTGGGTTTTGCCGGCTACTGG	0.537																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(2503-2505)gGc>gAc		membrane associated guanylate kinase, WW and PDZ domain containing 2							165.0	148.0	154.0					7																	77797325		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77797325C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2504G>A	7.37:g.77797325C>T	ENSP00000346151:p.Gly835Asp		Somatic				MAGI2_ENST00000522391.1_Missense_Mutation_p.G835D|MAGI2_ENST00000419488.1_Missense_Mutation_p.G821D	p.G835D	NM_012301.3	NP_036433.2	WXS	Illumina GAIIx	Phase_I	Q86UL8	MAGI2_HUMAN			15	2757	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	835			PDZ 4.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.2504G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441528	0.96187	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.52983	0.64;0.78;0.78	5.96	5.96	0.96718	PDZ/DHR/GLGF (4);	0.000000	0.37261	U	0.002175	T	0.62612	0.2442	L	0.39692	1.235	0.80722	D	1	D;D;D	0.76494	0.978;0.999;0.993	P;D;P	0.73708	0.831;0.981;0.831	T	0.60459	-0.7259	10	0.54805	T	0.06	.	19.4074	0.94653	0.0:1.0:0.0:0.0	.	835;821;835	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	D	821;835;835;835	ENSP00000405766:G821D;ENSP00000346151:G835D;ENSP00000428389:G835D	ENSP00000346151:G835D	G	-	2	0	MAGI2	77635261	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.831000	0.97527	0.650000	0.86243	GGC		0.537	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		4	289	0	0	0	1	0	4	289				
TDRD10	126668	broad.mit.edu	37	1	154493879	154493879	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:154493879G>A	ENST00000368480.3	+	6	378	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	TDRD10_ENST00000368482.4_Missense_Mutation_p.R98Q|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	98	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTCCACAAGCGAAAACTGTTC	0.507																																						ENST00000368482.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(292-294)cGa>cAa		tudor domain containing 10							156.0	166.0	162.0					1																	154493879		2203	4300	6503	SO:0001583	missense	126668						nucleotide binding|RNA binding	g.chr1:154493879G>A	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.293G>A	1.37:g.154493879G>A	ENSP00000357465:p.Arg98Gln		Somatic				TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Missense_Mutation_p.R98Q	p.R98Q	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	WXS	Illumina GAIIx	Phase_I	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	1131	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		98			RRM.		A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	c.293G>A	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.121023	0.77436	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.12465	2.68;2.68	3.79	1.26	0.21427	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	T	0.05135	0.0137	M	0.67397	2.05	0.09310	N	1	B;B	0.17465	0.022;0.017	B;B	0.12156	0.007;0.004	T	0.36261	-0.9755	9	0.52906	T	0.07	0.0994	4.9199	0.13865	0.4451:0.0:0.5549:0.0	.	98;98	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	Q	98	ENSP00000357467:R98Q;ENSP00000357465:R98Q	ENSP00000357465:R98Q	R	+	2	0	TDRD10	152760503	0.000000	0.05858	0.000000	0.03702	0.849000	0.48306	0.035000	0.13797	0.107000	0.17824	0.557000	0.71058	CGA		0.507	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		101	383	0	0	0	1	0	101	383				
ZBTB10	65986	broad.mit.edu	37	8	81399984	81399984	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:81399984T>C	ENST00000430430.1	+	2	1718	c.939T>C	c.(937-939)tcT>tcC	p.S313S	Y_RNA_ENST00000605948.1_RNA|ZBTB10_ENST00000379091.4_Intron|ZBTB10_ENST00000426744.2_Silent_p.S313S|ZBTB10_ENST00000455036.3_Silent_p.S313S	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			ACCACGTCTCTACCGAGCACA	0.537																																						ENST00000430430.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20						c.(937-939)tcT>tcC		zinc finger and BTB domain containing 10							55.0	60.0	58.0					8																	81399984		2007	4172	6179	SO:0001819	synonymous_variant	65986				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:81399984T>C	AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.939T>C	8.37:g.81399984T>C			Somatic				ZBTB10_ENST00000426744.2_Silent_p.S313S|ZBTB10_ENST00000379091.4_Intron|ZBTB10_ENST00000455036.3_Silent_p.S313S	p.S313S	NM_001277145.1	NP_001264074.1	WXS	Illumina GAIIx	Phase_I	Q96DT7	ZBT10_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)		2	1718	+	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		313					A4FVD0|Q86W96|Q8IXI9|Q96MH9	Silent	SNP	ENST00000430430.1	37	c.939T>C	CCDS47880.1																																																																																				0.537	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929		18	95	0	0	0	1	0	18	95				
TTN	7273	broad.mit.edu	37	2	179566270	179566270	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:179566270C>G	ENST00000591111.1	-	108	29856	c.29632G>C	c.(29632-29634)Gca>Cca	p.A9878P	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A8951P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A10195P|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33612	Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGGCACTGCTCTGATAGGC	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(30583-30585)Gca>Cca		titin							139.0	136.0	137.0					2																	179566270		1978	4188	6166	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179566270C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.29632G>C	2.37:g.179566270C>G	ENSP00000465570:p.Ala9878Pro		Somatic				TTN_ENST00000342992.6_Missense_Mutation_p.A8951P|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A9878P|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA	p.A10195P	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		110	30807	-			9878			Glu-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.30583G>C		.	.	.	.	.	.	.	.	.	.	C	17.81	3.481087	0.63849	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T	0.63913	-0.07	5.84	5.84	0.93424	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.77089	0.4079	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.987;0.998	T	0.78275	-0.2267	9	0.87932	D	0	.	15.6534	0.77115	0.0:1.0:0.0:0.0	.	9878;9878	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	P	8951;73	ENSP00000343764:A8951P	ENSP00000343764:A8951P	A	-	1	0	TTN	179274515	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.797000	0.47877	2.758000	0.94735	0.655000	0.94253	GCA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	132	0	0	0	1	0	27	132				
SPZ1	84654	broad.mit.edu	37	5	79617108	79617108	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr5:79617108T>A	ENST00000296739.4	+	1	1319	c.1074T>A	c.(1072-1074)taT>taA	p.Y358*		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	358					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AGATAAACTATAAACAGGACA	0.373																																						ENST00000296739.4																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26						c.(1072-1074)taT>taA		spermatogenic leucine zipper 1							80.0	76.0	77.0					5																	79617108		1841	4092	5933	SO:0001587	stop_gained	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79617108T>A		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.1074T>A	5.37:g.79617108T>A	ENSP00000369611:p.Tyr358*		Somatic					p.Y358*	NM_032567.3	NP_115956.3	WXS	Illumina GAIIx	Phase_I	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	1319	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	358					B2RA21|Q8N4P1|Q8N7E9	Nonsense_Mutation	SNP	ENST00000296739.4	37	c.1074T>A	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.067698	0.76301	.	.	ENSG00000164299	ENST00000296739	.	.	.	4.04	-5.04	0.02964	.	3.101490	0.00864	N	0.001952	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.2823	1.413	0.02295	0.121:0.2512:0.2768:0.3511	.	.	.	.	X	358	.	ENSP00000369611:Y358X	Y	+	3	2	SPZ1	79652864	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-4.209000	0.00273	-0.950000	0.03659	-0.472000	0.04984	TAT		0.373	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		5	115	0	0	0	1	0	5	115				
EPG5	57724	broad.mit.edu	37	18	43534834	43534834	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr18:43534834A>T	ENST00000282041.5	-	2	568	c.534T>A	c.(532-534)agT>agA	p.S178R		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	178					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGTCTTCTTTACTATTCTGAG	0.428																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(532-534)agT>agA		ectopic P-granules autophagy protein 5 homolog (C. elegans)							54.0	53.0	53.0					18																	43534834		1908	4114	6022	SO:0001583	missense	57724				autophagy			g.chr18:43534834A>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.534T>A	18.37:g.43534834A>T	ENSP00000282041:p.Ser178Arg		Somatic					p.S178R	NM_020964.2	NP_066015.2	WXS	Illumina GAIIx	Phase_I	Q9HCE0	EPG5_HUMAN			2	568	-			178					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.534T>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.195915	0.00299	.	.	ENSG00000152223	ENST00000282041	T	0.08896	3.04	4.76	-0.146	0.13432	.	0.281634	0.33591	N	0.004757	T	0.01976	0.0062	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43589	-0.9382	10	0.02654	T	1	-3.6568	3.4338	0.07438	0.147:0.382:0.3603:0.1107	.	178;178	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	R	178	ENSP00000282041:S178R	ENSP00000282041:S178R	S	-	3	2	EPG5	41788832	0.002000	0.14202	0.205000	0.23548	0.183000	0.23260	0.031000	0.13710	0.121000	0.18284	-1.524000	0.00929	AGT		0.428	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		6	54	0	0	0	1	0	6	54				
ELK4	2005	broad.mit.edu	37	1	205589422	205589422	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:205589422G>C	ENST00000357992.4	-	3	1091	c.752C>G	c.(751-753)aCc>aGc	p.T251S	ELK4_ENST00000468523.1_5'Flank|ELK4_ENST00000289703.4_Missense_Mutation_p.T251S	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	251					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GGGTGGTGTGGTGGCAAAAGC	0.502			T	SLC45A3	prostate																																	ENST00000357992.4				Dom	yes		1	1q32	2005	T	"""ELK4, ETS-domain protein (SRF accessory protein 1)"""			E	SLC45A3		prostate	SLC45A3/ELK4(18)	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12						c.(751-753)aCc>aGc		ELK4, ETS-domain protein (SRF accessory protein 1)							150.0	156.0	154.0					1																	205589422		2203	4300	6503	SO:0001583	missense	2005							g.chr1:205589422G>C	M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.752C>G	1.37:g.205589422G>C	ENSP00000350681:p.Thr251Ser		Somatic				ELK4_ENST00000289703.4_Missense_Mutation_p.T251S	p.T251S	NM_001973.3	NP_001964.2	WXS	Illumina GAIIx	Phase_I			BRCA - Breast invasive adenocarcinoma(75;0.0908)		3	1091	-	Breast(84;0.07)							P28323|Q6GSJ2	Missense_Mutation	SNP	ENST00000357992.4	37	c.752C>G	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.568872	0.00133	.	.	ENSG00000158711	ENST00000539916;ENST00000357992;ENST00000289703	T;T	0.29397	1.83;1.57	5.64	1.4	0.22301	.	1.060270	0.07171	N	0.852441	T	0.14570	0.0352	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.0	T	0.20405	-1.0276	10	0.02654	T	1	.	10.7848	0.46398	0.0:0.4341:0.432:0.1339	.	251;251	P28324-2;P28324	.;ELK4_HUMAN	S	341;251;251	ENSP00000350681:T251S;ENSP00000289703:T251S	ENSP00000289703:T251S	T	-	2	0	ELK4	203856045	0.110000	0.22057	0.000000	0.03702	0.006000	0.05464	1.256000	0.32921	0.005000	0.14708	0.655000	0.94253	ACC		0.502	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1	NM_021795		13	566	0	0	0	1	0	13	566				
TRAV2	28691	broad.mit.edu	37	14	22180791	22180791	+	RNA	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr14:22180791A>T	ENST00000390424.2	+	0	74				AE000658.31_ENST00000542992.1_lincRNA					T cell receptor alpha variable 2																		TGTTTTCTGTAGTTGCAGAAA	0.418																																						ENST00000390424.2																			0																				81.0	76.0	77.0					14																	22180791		1864	4108	5972			28691							g.chr14:22180791A>T	AE000658		14q11.2	2012-02-07			ENSG00000211776	ENSG00000211776		"""T cell receptors / TRA locus"""	12116	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168980		14.37:g.22180791A>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	74	+									RNA	SNP	ENST00000390424.2	37																																																																																						0.418	TRAV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401875.1	NG_001332		8	158	0	0	0	1	0	8	158				
SHPRH	257218	broad.mit.edu	37	6	146244777	146244777	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr6:146244777A>T	ENST00000367505.2	-	18	3810		c.e18+1		SHPRH_ENST00000438092.2_Splice_Site|SHPRH_ENST00000275233.7_Splice_Site|SHPRH_ENST00000367503.3_Splice_Site			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase						DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTGTTTTCTTACTTCTCTGAC	0.323																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.e18+1		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							148.0	132.0	137.0					6																	146244777		1817	4085	5902	SO:0001630	splice_region_variant	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146244777A>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3545+1T>A	6.37:g.146244777A>T			Somatic				SHPRH_ENST00000438092.2_Splice_Site|SHPRH_ENST00000367505.2_Splice_Site|SHPRH_ENST00000275233.7_Splice_Site		NM_001042683.2	NP_001036148.2	WXS	Illumina GAIIx	Phase_I	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	18	3971	-		Ovarian(120;0.0365)						Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Splice_Site	SNP	ENST00000367505.2	37		CCDS43513.2	.	.	.	.	.	.	.	.	.	.	A	22.3	4.265911	0.80358	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8753	0.70491	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SHPRH	146286470	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.207000	0.95064	1.923000	0.55706	0.482000	0.46254	.		0.323	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	Intron	4	81	0	0	0	1	0	4	81				
IFT46	56912	broad.mit.edu	37	11	118428460	118428460	+	Intron	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr11:118428460T>C	ENST00000264021.3	-	4	464				IFT46_ENST00000264020.2_Missense_Mutation_p.H64R|IFT46_ENST00000530872.1_Missense_Mutation_p.H64R|IFT46_ENST00000527868.1_5'Flank	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46						cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TACCTTTCTGTGCTTCTGGCT	0.453																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(190-192)cAc>cGc		intraflagellar transport 46 homolog (Chlamydomonas)							166.0	154.0	158.0					11																	118428460		2200	4295	6495	SO:0001627	intron_variant	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118428460T>C	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"""Intraflagellar transport homologs"""	26146	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 32"""		"""chromosome 11 open reading frame 60"", ""intraflagellar transport 46 homolog (Chlamydomonas)"""	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.46-700A>G	11.37:g.118428460T>C			Somatic				IFT46_ENST00000530872.1_Missense_Mutation_p.H64R|IFT46_ENST00000264021.3_Intron	p.H64R	NM_020153.3	NP_064538.3	WXS	Illumina GAIIx	Phase_I	Q9NQC8	IFT46_HUMAN			4	568	-			15					A8K0F6|Q9H6V5	Missense_Mutation	SNP	ENST00000264021.3	37	c.191A>G	CCDS53718.1	.	.	.	.	.	.	.	.	.	.	T	6.489	0.458328	0.12342	.	.	ENSG00000118096	ENST00000264020;ENST00000530872;ENST00000534114	T;T;T	0.41400	1.0;2.42;2.42	4.71	-0.345	0.12624	.	1.521230	0.04008	N	0.297740	T	0.20333	0.0489	N	0.08118	0	0.21553	N	0.999648	B;B	0.14012	0.005;0.009	B;B	0.16722	0.011;0.016	T	0.11179	-1.0598	10	0.16420	T	0.52	-0.1114	2.6344	0.04954	0.44:0.0:0.1983:0.3617	.	64;64	E9PR06;Q9NQC8-2	.;.	R	64	ENSP00000264020:H64R;ENSP00000432384:H64R;ENSP00000432982:H64R	ENSP00000264020:H64R	H	-	2	0	IFT46	117933670	0.936000	0.31750	0.681000	0.30009	0.307000	0.27823	0.429000	0.21412	-0.223000	0.09943	-0.527000	0.04329	CAC		0.453	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		3	181	0	0	0	1	0	3	181				
CCDC57	284001	broad.mit.edu	37	17	80156290	80156290	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr17:80156290T>C	ENST00000389641.4	-	3	452	c.416A>G	c.(415-417)aAt>aGt	p.N139S	CCDC57_ENST00000392347.1_Missense_Mutation_p.N139S|CCDC57_ENST00000392343.3_Missense_Mutation_p.N139S			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	139										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AATCTCACCATTCTTGTCACT	0.413																																						ENST00000392347.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(415-417)aAt>aGt		coiled-coil domain containing 57							87.0	84.0	85.0					17																	80156290		1865	4104	5969	SO:0001583	missense	284001							g.chr17:80156290T>C	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.416A>G	17.37:g.80156290T>C	ENSP00000374292:p.Asn139Ser		Somatic				CCDC57_ENST00000392343.3_Missense_Mutation_p.N139S|CCDC57_ENST00000389641.4_Missense_Mutation_p.N139S	p.N139S	NM_198082.2	NP_932348.2	WXS	Illumina GAIIx	Phase_I	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		3	452	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		139					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37	c.416A>G		.	.	.	.	.	.	.	.	.	.	T	11.95	1.791993	0.31685	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.25579	2.97;2.97;1.79	4.96	3.89	0.44902	.	0.135877	0.48767	D	0.000179	T	0.29588	0.0738	L	0.59436	1.845	0.80722	D	1	P;P	0.52316	0.952;0.873	P;B	0.48488	0.579;0.412	T	0.02560	-1.1141	10	0.30078	T	0.28	-24.0588	8.7031	0.34338	0.0:0.0921:0.0:0.9079	.	139;139	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	S	139	ENSP00000374292:N139S;ENSP00000376158:N139S;ENSP00000376154:N139S	ENSP00000374292:N139S	N	-	2	0	CCDC57	77749579	0.832000	0.29368	0.728000	0.30774	0.855000	0.48748	1.290000	0.33319	0.746000	0.32786	0.459000	0.35465	AAT		0.413	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		9	35	0	0	0	1	0	9	35				
RNF17	56163	broad.mit.edu	37	13	25353868	25353868	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr13:25353868T>C	ENST00000255324.5	+	5	545	c.493T>C	c.(493-495)Tta>Cta	p.L165L	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.6_Silent_p.L165L|RNF17_ENST00000381921.1_Silent_p.L165L	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	165					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTTCGAACAGTTAAGCATTGC	0.363																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(493-495)Tta>Cta		ring finger protein 17							131.0	123.0	126.0					13																	25353868		2203	4300	6503	SO:0001819	synonymous_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25353868T>C	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.493T>C	13.37:g.25353868T>C			Somatic				RNF17_ENST00000255325.5_Silent_p.L165L|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Silent_p.L165L	p.L165L	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	WXS	Illumina GAIIx	Phase_I	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	5	545	+		Lung SC(185;0.0225)|Breast(139;0.077)	165					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	c.493T>C	CCDS9308.2																																																																																				0.363	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		53	128	0	0	0	1	0	53	128				
UBR5	51366	broad.mit.edu	37	8	103317335	103317335	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:103317335A>T	ENST00000520539.1	-	21	3411	c.2805T>A	c.(2803-2805)aaT>aaA	p.N935K	UBR5_ENST00000220959.4_Missense_Mutation_p.N935K|UBR5_ENST00000521922.1_Missense_Mutation_p.N929K	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	935					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TAGTTTCTTTATTGCTGGTTG	0.358																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(2803-2805)aaT>aaA		ubiquitin protein ligase E3 component n-recognin 5							137.0	133.0	135.0					8																	103317335		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103317335A>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.2805T>A	8.37:g.103317335A>T	ENSP00000429084:p.Asn935Lys		Somatic				UBR5_ENST00000521922.1_Missense_Mutation_p.N929K|UBR5_ENST00000220959.4_Missense_Mutation_p.N935K	p.N935K	NM_015902.5	NP_056986.2	WXS	Illumina GAIIx	Phase_I	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		21	3411	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		935					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.2805T>A	CCDS34933.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.2|23.2	4.387229|4.387229	0.82902|0.82902	.|.	.|.	ENSG00000104517|ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922|ENST00000520898;ENST00000519365	T;T;T|.	0.49432|.	0.78;0.78;0.78|.	5.41|5.41	3.07|3.07	0.35406|0.35406	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.60117|.	0.2244|.	M|M	0.66297|0.66297	2.02|2.02	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.57899|.	0.981;0.981|.	D;D|.	0.65140|.	0.932;0.932|.	T|.	0.56842|.	-0.7912|.	10|.	0.87932|.	D|.	0|.	.|.	5.8283|5.8283	0.18566|0.18566	0.6161:0.0:0.3839:0.0|0.6161:0.0:0.3839:0.0	.|.	929;935|.	E7EMW7;O95071|.	.;UBR5_HUMAN|.	K|K	935;935;929|26;51	ENSP00000429084:N935K;ENSP00000220959:N935K;ENSP00000427819:N929K|.	ENSP00000220959:N935K|.	N|X	-|-	3|1	2|0	UBR5|UBR5	103386511|103386511	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	3.437000|3.437000	0.52863|0.52863	0.906000|0.906000	0.36621|0.36621	0.254000|0.254000	0.18369|0.18369	AAT|TAA		0.358	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		7	303	0	0	0	1	0	7	303				
MEIS1	4211	broad.mit.edu	37	2	66795797	66795797	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:66795797A>T	ENST00000272369.9	+	11	1481		c.e11-1		MEIS1_ENST00000407092.2_Splice_Site|MEIS1_ENST00000409517.1_Splice_Site|MEIS1_ENST00000488550.1_Splice_Site|MEIS1_ENST00000444274.2_Splice_Site|MEIS1_ENST00000398506.2_Splice_Site|MEIS1_ENST00000495021.2_Splice_Site	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1						angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						GTACTTTTGTAGTAAGTCAAG	0.413																																						ENST00000488550.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						c.e11-1		Meis homeobox 1							199.0	189.0	192.0					2																	66795797		1854	4097	5951	SO:0001630	splice_region_variant	4211						sequence-specific DNA binding transcription factor activity	g.chr2:66795797A>T		CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.1025-1A>T	2.37:g.66795797A>T			Somatic				MEIS1_ENST00000444274.2_Splice_Site|MEIS1_ENST00000398506.2_Splice_Site|MEIS1_ENST00000407092.2_Splice_Site|MEIS1_ENST00000272369.9_Splice_Site|MEIS1_ENST00000495021.2_Splice_Site|MEIS1_ENST00000409517.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	O00470	MEIS1_HUMAN			11	1323	+								A8MV50	Splice_Site	SNP	ENST00000272369.9	37		CCDS46309.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.660542	0.88154	.	.	ENSG00000143995	ENST00000272369;ENST00000407092;ENST00000398506;ENST00000495021;ENST00000402908;ENST00000409517;ENST00000450027	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.692	0.77461	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEIS1	66649301	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.339000	0.96797	2.119000	0.64992	0.460000	0.39030	.		0.413	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398	Intron	6	425	0	0	0	1	0	6	425				
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					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)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52.0	62.0	59.0					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A			Somatic				NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	WXS	Illumina GAIIx	Phase_I	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		3	39	0	0	0	1	0	3	39				
MTM1	4534	broad.mit.edu	37	X	149814337	149814337	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chrX:149814337C>T	ENST00000370396.2	+	9	914	c.860C>T	c.(859-861)gCc>gTc	p.A287V	MTM1_ENST00000542741.1_Missense_Mutation_p.A192V|MTM1_ENST00000543350.1_Missense_Mutation_p.A172V|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.A250V	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	287	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					AATGCAGTGGCCAACAAGGTG	0.383																																						ENST00000370396.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(859-861)gCc>gTc		myotubularin 1							95.0	81.0	86.0					X																	149814337		2203	4300	6503	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149814337C>T	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.860C>T	X.37:g.149814337C>T	ENSP00000359423:p.Ala287Val		Somatic				MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.A172V|MTM1_ENST00000542741.1_Missense_Mutation_p.A192V|MTM1_ENST00000413012.2_Missense_Mutation_p.A250V	p.A287V	NM_000252.2	NP_000243.1	WXS	Illumina GAIIx	Phase_I	Q13496	MTM1_HUMAN			9	914	+	Acute lymphoblastic leukemia(192;6.56e-05)		287			Myotubularin phosphatase.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.860C>T	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707036	0.89018	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76	5.78	5.78	0.91487	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.049572	0.85682	N	0.000000	D	0.95449	0.8522	M	0.86573	2.825	0.80722	D	1	D;P	0.57257	0.979;0.769	P;B	0.60286	0.872;0.32	D	0.95044	0.8181	10	0.45353	T	0.12	.	19.0341	0.92970	0.0:1.0:0.0:0.0	.	250;287	B7Z491;Q13496	.;MTM1_HUMAN	V	287;192;172;250	ENSP00000359423:A287V;ENSP00000444015:A192V;ENSP00000439784:A172V;ENSP00000389157:A250V	ENSP00000359423:A287V	A	+	2	0	MTM1	149564995	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.782000	0.85680	2.444000	0.82710	0.594000	0.82650	GCC		0.383	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		4	504	0	0	0	1	0	4	504				
BTAF1	9044	broad.mit.edu	37	10	93757421	93757421	+	Silent	SNP	A	A	T	rs541583849		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr10:93757421A>T	ENST00000265990.6	+	25	3881	c.3573A>T	c.(3571-3573)gtA>gtT	p.V1191V	BTAF1_ENST00000544642.1_Silent_p.V19V	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1191					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTGTTCCTGTATTAGGAAGAA	0.388																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(3571-3573)gtA>gtT		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							162.0	131.0	141.0					10																	93757421		2203	4300	6503	SO:0001819	synonymous_variant	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93757421A>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3573A>T	10.37:g.93757421A>T			Somatic				BTAF1_ENST00000544642.1_Silent_p.V19V	p.V1191V	NM_003972.2	NP_003963.1	WXS	Illumina GAIIx	Phase_I	O14981	BTAF1_HUMAN			25	3881	+		Colorectal(252;0.0846)	1191					B4E0W6|O43578	Silent	SNP	ENST00000265990.6	37	c.3573A>T	CCDS7419.1																																																																																				0.388	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		4	99	0	0	0	1	0	4	99				
GNB3	2784	broad.mit.edu	37	12	6952544	6952544	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr12:6952544G>A	ENST00000229264.3	+	7	690	c.285G>A	c.(283-285)ctG>ctA	p.L95L	CDCA3_ENST00000604599.1_5'Flank|GNB3_ENST00000435982.2_Silent_p.L95L	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	95					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CCATCCCACTGCGCTCCTCCT	0.607																																						ENST00000229264.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.(283-285)ctG>ctA		guanine nucleotide binding protein (G protein), beta polypeptide 3							108.0	96.0	100.0					12																	6952544		2203	4300	6503	SO:0001819	synonymous_variant	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6952544G>A		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.285G>A	12.37:g.6952544G>A			Somatic				GNB3_ENST00000435982.2_Silent_p.L95L	p.L95L	NM_002075.2	NP_002066.1	WXS	Illumina GAIIx	Phase_I	P16520	GBB3_HUMAN			7	690	+			95					Q96B71|Q9BQC0	Silent	SNP	ENST00000229264.3	37	c.285G>A	CCDS8564.1																																																																																				0.607	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		4	279	0	0	0	1	0	4	279				
NCAPG2	54892	broad.mit.edu	37	7	158447321	158447321	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr7:158447321T>C	ENST00000409423.1	-	23	2884	c.2712A>G	c.(2710-2712)caA>caG	p.Q904Q	NCAPG2_ENST00000449727.2_Silent_p.Q904Q|NCAPG2_ENST00000275830.10_Silent_p.Q696Q|NCAPG2_ENST00000409339.3_Silent_p.Q904Q|NCAPG2_ENST00000541468.1_Silent_p.Q405Q|NCAPG2_ENST00000356309.3_Silent_p.Q904Q	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	904					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GCTGTAAGAGTTGCATCTGAA	0.463																																						ENST00000409339.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(2710-2712)caA>caG		non-SMC condensin II complex, subunit G2							184.0	178.0	180.0					7																	158447321		1944	4150	6094	SO:0001819	synonymous_variant	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158447321T>C	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2712A>G	7.37:g.158447321T>C			Somatic				NCAPG2_ENST00000275830.10_Silent_p.Q696Q|NCAPG2_ENST00000356309.3_Silent_p.Q904Q|NCAPG2_ENST00000409423.1_Silent_p.Q904Q|NCAPG2_ENST00000449727.2_Silent_p.Q904Q|NCAPG2_ENST00000541468.1_Silent_p.Q405Q	p.Q904Q			WXS	Illumina GAIIx	Phase_I	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	22	2825	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	904					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Silent	SNP	ENST00000409423.1	37	c.2712A>G	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	T	0.020	-1.438998	0.01098	.	.	ENSG00000146918	ENST00000441982	.	.	.	5.79	-4.61	0.03380	.	.	.	.	.	T	0.17831	0.0428	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25745	-1.0123	4	.	.	.	-4.8509	2.0956	0.03667	0.169:0.2884:0.1117:0.4309	.	.	.	.	S	706	.	.	N	-	2	0	NCAPG2	158140082	0.005000	0.15991	0.006000	0.13384	0.001000	0.01503	-1.762000	0.01803	-0.910000	0.03847	-0.366000	0.07423	AAC		0.463	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		77	269	0	0	0	1	0	77	269				
SH3RF3	344558	broad.mit.edu	37	2	109964318	109964318	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:109964318G>T	ENST00000309415.6	+	2	762	c.762G>T	c.(760-762)ttG>ttT	p.L254F		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	254							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCCAGCCCTTGCCACACGCCC	0.577																																						ENST00000309415.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						c.(760-762)ttG>ttT		SH3 domain containing ring finger 3							41.0	47.0	45.0					2																	109964318		2101	4221	6322	SO:0001583	missense	344558						zinc ion binding	g.chr2:109964318G>T	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.762G>T	2.37:g.109964318G>T	ENSP00000309186:p.Leu254Phe		Somatic					p.L254F	NM_001099289.1	NP_001092759.1	WXS	Illumina GAIIx	Phase_I	Q8TEJ3	SH3R3_HUMAN			2	762	+			254					A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37	c.762G>T		.	.	.	.	.	.	.	.	.	.	G	12.91	2.079323	0.36662	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.31769	1.48;1.48	5.06	3.97	0.46021	.	.	.	.	.	T	0.47192	0.1432	.	.	.	0.40062	D	0.975905	D	0.76494	0.999	D	0.76071	0.987	T	0.45411	-0.9263	8	0.48119	T	0.1	.	6.1418	0.20263	0.0883:0.1432:0.6383:0.1302	.	254	Q8TEJ3	SH3R3_HUMAN	F	254	ENSP00000414997:L254F;ENSP00000309186:L254F	ENSP00000309186:L254F	L	+	3	2	SH3RF3	109330750	0.989000	0.36119	0.953000	0.39169	0.175000	0.22909	1.114000	0.31196	2.335000	0.79485	0.555000	0.69702	TTG		0.577	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		6	68	1	0	1.11149e-13	1	1.19267e-13	6	68				
CHD6	84181	broad.mit.edu	37	20	40033458	40033458	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr20:40033458C>T	ENST00000373233.3	-	37	8100	c.7923G>A	c.(7921-7923)caG>caA	p.Q2641Q	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2641					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGTGTCTGGCCTGCTGCATGG	0.542																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(7921-7923)caG>caA		chromodomain helicase DNA binding protein 6							48.0	53.0	51.0					20																	40033458		2203	4300	6503	SO:0001819	synonymous_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40033458C>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7923G>A	20.37:g.40033458C>T			Somatic				CHD6_ENST00000480022.1_5'UTR	p.Q2641Q	NM_032221.3	NP_115597.3	WXS	Illumina GAIIx	Phase_I	Q8TD26	CHD6_HUMAN			37	8100	-		Myeloproliferative disorder(115;0.00425)	2641					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.7923G>A	CCDS13317.1																																																																																				0.542	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			36	66	0	0	0	1	0	36	66				
CT47B1	643311	broad.mit.edu	37	X	120009353	120009353	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chrX:120009353C>G	ENST00000371311.3	-	1	426	c.172G>C	c.(172-174)Gtg>Ctg	p.V58L		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	58										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						AGGCCTTCCACGGGCCCTGCG	0.751																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(172-174)Gtg>Ctg		cancer/testis antigen family 47, member B1							3.0	6.0	5.0					X																	120009353		621	1436	2057	SO:0001583	missense	643311							g.chrX:120009353C>G		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.172G>C	X.37:g.120009353C>G	ENSP00000360360:p.Val58Leu		Somatic					p.V58L	NM_001145718.1	NP_001139190.1	WXS	Illumina GAIIx	Phase_I	P0C2W7	CT47B_HUMAN			1	426	-			58					A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	c.172G>C	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	C	5.105	0.204985	0.09704	.	.	ENSG00000236446	ENST00000371311	.	.	.	2.34	-4.68	0.03309	.	7.540080	0.00447	N	0.000098	T	0.18635	0.0447	N	0.14661	0.345	0.09310	N	1	B	0.24651	0.108	B	0.20184	0.028	T	0.05699	-1.0869	9	0.36615	T	0.2	.	1.9792	0.03422	0.1586:0.4437:0.1584:0.2393	.	58	P0C2W7	CT47B_HUMAN	L	58	.	ENSP00000360360:V58L	V	-	1	0	CT47B1	119893381	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-1.264000	0.02847	-2.226000	0.00723	-1.607000	0.00807	GTG		0.751	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		3	14	0	0	0	1	0	3	14				
ST18	9705	broad.mit.edu	37	8	53077787	53077787	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:53077787T>A	ENST00000276480.7	-	12	1888		c.e12-2			NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGCAAGAACTAAGCACAAAA	0.428																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.e12-2		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							157.0	150.0	152.0					8																	53077787		2203	4300	6503	SO:0001630	splice_region_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53077787T>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1205-2A>T	8.37:g.53077787T>A			Somatic						NM_014682.2	NP_055497.1	WXS	Illumina GAIIx	Phase_I	O60284	ST18_HUMAN			12	1888	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)						Q17RY1	Splice_Site	SNP	ENST00000276480.7	37		CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.797320	0.90538	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3526	0.83220	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ST18	53240340	1.000000	0.71417	0.968000	0.41197	0.966000	0.64601	7.903000	0.87398	2.255000	0.74692	0.533000	0.62120	.		0.428	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		Intron	7	577	0	0	0	1	0	7	577				
RIF1	55183	broad.mit.edu	37	2	152324541	152324541	+	Missense_Mutation	SNP	A	A	C	rs375183072		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:152324541A>C	ENST00000243326.5	+	30	7111	c.6628A>C	c.(6628-6630)Ata>Cta	p.I2210L	RIF1_ENST00000453091.2_Missense_Mutation_p.I2210L|RIF1_ENST00000428287.2_Missense_Mutation_p.I2210L|RIF1_ENST00000444746.2_Missense_Mutation_p.I2210L|RIF1_ENST00000430328.2_Missense_Mutation_p.I2210L			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGCAGATCCAATATACCAAGC	0.353																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(6628-6630)Ata>Cta		RAP1 interacting factor homolog (yeast)							121.0	117.0	119.0					2																	152324541		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152324541A>C	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6628A>C	2.37:g.152324541A>C	ENSP00000243326:p.Ile2210Leu		Somatic				RIF1_ENST00000428287.2_Missense_Mutation_p.I2210L|RIF1_ENST00000430328.2_Missense_Mutation_p.I2210L|RIF1_ENST00000444746.2_Missense_Mutation_p.I2210L|RIF1_ENST00000453091.2_Missense_Mutation_p.I2210L	p.I2210L			WXS	Illumina GAIIx	Phase_I	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	30	7111	+			2210			Interaction with condensed chromosomes in telophase.		A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.6628A>C	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	31	5.095437	0.94197	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.14640	2.51;2.49;2.49;2.51;2.49	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	M	0.64997	1.995	0.80722	D	1	P;D	0.60160	0.928;0.987	P;D	0.71656	0.717;0.974	T	0.03184	-1.1063	10	0.56958	D	0.05	-22.0883	15.5077	0.75753	1.0:0.0:0.0:0.0	.	2210;2210	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	L	2210	ENSP00000390181:I2210L;ENSP00000414615:I2210L;ENSP00000415691:I2210L;ENSP00000243326:I2210L;ENSP00000416123:I2210L	ENSP00000243326:I2210L	I	+	1	0	RIF1	152032787	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.022000	0.70839	2.143000	0.66587	0.482000	0.46254	ATA		0.353	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			27	134	0	0	0	1	0	27	134				
LGALS17A	400696	broad.mit.edu	37	19	40172101	40172101	+	RNA	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr19:40172101C>A	ENST00000412609.1	+	0	90																											GTGTCCTTGTCTACTGGTTCT	0.552																																					Colon(98;189 2488 3678)	ENST00000412609.1																			0																				242.0	189.0	205.0					19																	40172101		692	1591	2283			400696							g.chr19:40172101C>A																													19.37:g.40172101C>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	90	+									RNA	SNP	ENST00000412609.1	37																																																																																						0.552	LGALS17A-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000280514.1			5	195	1	0	0.0215528	1	0.0218967	5	195				
ARRB2	409	broad.mit.edu	37	17	4624281	4624281	+	Missense_Mutation	SNP	C	C	T	rs550313289		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr17:4624281C>T	ENST00000269260.2	+	15	1410	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W	ARRB2_ENST00000572457.1_Missense_Mutation_p.R201W|ARRB2_ENST00000575877.1_3'UTR|ARRB2_ENST00000346341.2_Missense_Mutation_p.R390W|ARRB2_ENST00000412477.3_Missense_Mutation_p.R414W|ARRB2_ENST00000381488.6_Missense_Mutation_p.R378W|ARRB2_ENST00000574954.1_Missense_Mutation_p.R201W|ARRB2_ENST00000571206.1_Missense_Mutation_p.R201W	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	393	Interaction with AP2B1.|Interaction with TRAF6.				adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						GGACTTTGCCCGGCTTCGGCT	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		18519	0.0		0.0	False		,,,				2504	0.001					ENST00000269260.2																			0				large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						c.(1177-1179)Cgg>Tgg		arrestin, beta 2							205.0	165.0	179.0					17																	4624281		2203	4300	6503	SO:0001583	missense	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4624281C>T		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.1177C>T	17.37:g.4624281C>T	ENSP00000269260:p.Arg393Trp		Somatic				ARRB2_ENST00000381488.6_Missense_Mutation_p.R378W|ARRB2_ENST00000571206.1_Missense_Mutation_p.R201W|ARRB2_ENST00000412477.3_Missense_Mutation_p.R414W|ARRB2_ENST00000346341.2_Missense_Mutation_p.R390W|ARRB2_ENST00000574954.1_Missense_Mutation_p.R201W|ARRB2_ENST00000572457.1_Missense_Mutation_p.R201W|ARRB2_ENST00000575877.1_3'UTR	p.R393W	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	WXS	Illumina GAIIx	Phase_I	P32121	ARRB2_HUMAN			15	1410	+			393			Interaction with AP2B1.|Interaction with TRAF6.		B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	SNP	ENST00000269260.2	37	c.1177C>T	CCDS11050.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860644	0.71834	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T	0.22134	1.97	4.16	0.63	0.17693	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36054	0.0953	L	0.51422	1.61	0.58432	D	0.999998	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;0.999;0.999;0.997;0.998	T	0.14504	-1.0470	10	0.87932	D	0	-10.5342	11.3496	0.49579	0.4421:0.5579:0.0:0.0	.	414;390;405;378;393	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	W	405;393;378;394	ENSP00000269260:R393W	ENSP00000269260:R393W	R	+	1	2	ARRB2	4571030	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.426000	0.52778	0.481000	0.27557	0.551000	0.68910	CGG		0.557	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		5	739	0	0	0	1	0	5	739				
ADAM18	8749	broad.mit.edu	37	8	39550117	39550117	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:39550117A>T	ENST00000265707.5	+	17	1866		c.e17-1		ADAM18_ENST00000541111.1_Splice_Site|ADAM18_ENST00000379866.1_Splice_Site|ADAM18_ENST00000523755.1_Splice_Site	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GTTTTGTTTTAGTACTGTGTA	0.279																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.e17-1		ADAM metallopeptidase domain 18							49.0	52.0	51.0					8																	39550117		2203	4298	6501	SO:0001630	splice_region_variant	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39550117A>T	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1822-1A>T	8.37:g.39550117A>T			Somatic				ADAM18_ENST00000523755.1_Splice_Site|ADAM18_ENST00000541111.1_Splice_Site|ADAM18_ENST00000379866.1_Splice_Site		NM_014237.2	NP_055052.1	WXS	Illumina GAIIx	Phase_I	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		17	1866	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)						B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Splice_Site	SNP	ENST00000265707.5	37		CCDS6113.1	.	.	.	.	.	.	.	.	.	.	A	8.358	0.832375	0.16820	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000541111	.	.	.	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2602	0.37608	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM18	39669274	1.000000	0.71417	0.969000	0.41365	0.138000	0.21146	2.177000	0.42509	1.968000	0.57251	0.374000	0.22700	.		0.279	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	Intron	4	83	0	0	0	1	0	4	83				
BRCA1	672	broad.mit.edu	37	17	41246630	41246630	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr17:41246630A>T	ENST00000357654.3	-	10	1036	c.918T>A	c.(916-918)aaT>aaA	p.N306K	BRCA1_ENST00000354071.3_Missense_Mutation_p.N306K|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.N306K|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.N259K|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.N10K|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.N306K	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	306					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTTTGCTTTTATTACAGAATT	0.418			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 1			E		"""breast, ovarian"""	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(28-30)aaT>aaA	Homologous recombination	breast cancer 1, early onset							150.0	139.0	143.0					17																	41246630		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41246630A>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.918T>A	17.37:g.41246630A>T	ENSP00000350283:p.Asn306Lys	TCGA Ovarian(2;0.000030)	Somatic				BRCA1_ENST00000471181.2_Missense_Mutation_p.N306K|BRCA1_ENST00000354071.3_Missense_Mutation_p.N306K|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.N306K|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.N259K|BRCA1_ENST00000346315.3_Missense_Mutation_p.N306K|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Intron	p.N10K	NM_007297.3	NP_009228.2	WXS	Illumina GAIIx	Phase_I	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1057	-		Breast(137;0.000717)	306		E -> K (in BC and BROVCA1).			O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.30T>A	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.07|17.07	3.294775|3.294775	0.60086|0.60086	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000473961|ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152;ENST00000497488;ENST00000494123	.|D;D;D;D;D;D;D;D;D;D	.|0.90444	.|-2.2;-2.32;-2.3;-2.41;-2.2;-2.32;-1.59;-1.59;-2.67;-1.59	4.95|4.95	3.87|3.87	0.44632|0.44632	.|.	.|0.536286	.|0.18522	.|N	.|0.138754	D|D	0.93916|0.93916	0.8053|0.8053	M|M	0.91818|0.91818	3.245|3.245	0.31514|0.31514	N|N	0.663179|0.663179	.|P;P;P;P;P;P	.|0.49961	.|0.842;0.842;0.884;0.784;0.93;0.733	.|B;B;B;P;P;P	.|0.52031	.|0.321;0.257;0.41;0.54;0.688;0.623	D|D	0.93220|0.93220	0.6608|0.6608	5|10	.|0.72032	.|D	.|0.01	.|.	9.0569|9.0569	0.36412|0.36412	0.9161:0.0:0.0839:0.0|0.9161:0.0:0.0839:0.0	.|.	.|306;265;306;306;306;306	.|E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.|.;.;.;.;BRCA1_HUMAN;.	K|K	172|306;306;306;306;10;306;259;306;280;10;306	.|ENSP00000350283:N306K;ENSP00000326002:N306K;ENSP00000246907:N306K;ENSP00000310938:N10K;ENSP00000418960:N306K;ENSP00000418775:N259K;ENSP00000419274:N306K;ENSP00000419988:N280K;ENSP00000418986:N10K;ENSP00000419103:N306K	.|ENSP00000310938:N10K	I|N	-|-	2|3	0|2	BRCA1|BRCA1	38500156|38500156	0.924000|0.924000	0.31332|0.31332	0.985000|0.985000	0.45067|0.45067	0.997000|0.997000	0.91878|0.91878	1.890000|1.890000	0.39728|0.39728	1.005000|1.005000	0.39183|0.39183	0.533000|0.533000	0.62120|0.62120	ATA|AAT		0.418	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		5	182	0	0	0	1	0	5	182				
IQGAP1	8826	broad.mit.edu	37	15	91025444	91025444	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr15:91025444C>T	ENST00000268182.5	+	28	3610	c.3486C>T	c.(3484-3486)ttC>ttT	p.F1162F	IQGAP1_ENST00000560738.1_Silent_p.F590F	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1162	C1.|Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GGATGCGCTTCATTGCCAAAG	0.522											OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3484-3486)ttC>ttT		IQ motif containing GTPase activating protein 1							136.0	118.0	124.0					15																	91025444		2198	4298	6496	SO:0001819	synonymous_variant	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91025444C>T	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3486C>T	15.37:g.91025444C>T			Somatic	OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1279	IQGAP1_ENST00000560738.1_Silent_p.F590F	p.F1162F	NM_003870.3	NP_003861.1	WXS	Illumina GAIIx	Phase_I	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		28	3610	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1162			C1.|Ras-GAP.		A7MBM3	Silent	SNP	ENST00000268182.5	37	c.3486C>T	CCDS10362.1																																																																																				0.522	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		52	181	0	0	0	1	0	52	181				
ANKRD55	79722	broad.mit.edu	37	5	55407417	55407417	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr5:55407417A>G	ENST00000341048.4	-	10	1309	c.1158T>C	c.(1156-1158)gaT>gaC	p.D386D	ANKRD55_ENST00000434982.2_Silent_p.D98D|ANKRD55_ENST00000504958.2_Silent_p.D343D|ANKRD55_ENST00000505970.2_5'UTR	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	386										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CCACGATGCTATCAAAGGTGG	0.463																																						ENST00000341048.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34						c.(1156-1158)gaT>gaC		ankyrin repeat domain 55							298.0	287.0	291.0					5																	55407417		2203	4300	6503	SO:0001819	synonymous_variant	79722							g.chr5:55407417A>G	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1158T>C	5.37:g.55407417A>G			Somatic				ANKRD55_ENST00000434982.2_Silent_p.D98D|ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000504958.2_Silent_p.D343D	p.D386D	NM_024669.2	NP_078945.2	WXS	Illumina GAIIx	Phase_I	Q3KP44	ANR55_HUMAN			10	1309	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	385					B3KVT8|Q3KP45|Q9HAD3	Silent	SNP	ENST00000341048.4	37	c.1158T>C	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	.	9.437	1.087067	0.20390	.	.	ENSG00000164512	ENST00000505970	.	.	.	5.59	4.72	0.59763	.	.	.	.	.	T	0.65344	0.2682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68254	-0.5457	5	0.87932	D	0	.	8.683	0.34221	0.2478:0.0:0.7522:0.0	.	.	.	.	T	131	.	ENSP00000422370:I131T	I	-	2	0	ANKRD55	55443174	1.000000	0.71417	0.998000	0.56505	0.826000	0.46750	3.206000	0.51098	1.489000	0.48450	-0.248000	0.11899	ATA		0.463	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		128	678	0	0	0	1	0	128	678				
SLC25A11	8402	broad.mit.edu	37	17	4841809	4841809	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr17:4841809G>A	ENST00000225665.7	-	4	884	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	RNF167_ENST00000571816.1_5'Flank|RNF167_ENST00000262482.6_5'Flank|RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000572430.1_5'Flank|SLC25A11_ENST00000544061.2_Missense_Mutation_p.R131W	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	182					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						CCACTCACCCGCCACAGTGTG	0.602																																					Esophageal Squamous(144;1178 2388 18010 48797)	ENST00000225665.7																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						c.(544-546)Cgg>Tgg		solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11							88.0	101.0	97.0					17																	4841809		2203	4300	6503	SO:0001583	missense	8402				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity	g.chr17:4841809G>A	X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"""Solute carriers"""	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.544C>T	17.37:g.4841809G>A	ENSP00000225665:p.Arg182Trp		Somatic				SLC25A11_ENST00000544061.2_Missense_Mutation_p.R131W	p.R182W	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	WXS	Illumina GAIIx	Phase_I	Q02978	M2OM_HUMAN			4	884	-			182					F5GY65|O75537|Q969P7	Missense_Mutation	SNP	ENST00000225665.7	37	c.544C>T	CCDS11059.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.918039	0.52546	.	.	ENSG00000108528	ENST00000225665;ENST00000544061	D;D	0.82344	-1.6;-1.6	5.74	2.3	0.28687	Mitochondrial carrier domain (2);	0.043342	0.85682	D	0.000000	D	0.94026	0.8086	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94795	0.7965	10	0.87932	D	0	-22.9255	12.6839	0.56936	0.0:0.0:0.2428:0.7572	.	182;182	Q6IBH0;Q02978	.;M2OM_HUMAN	W	182;131	ENSP00000225665:R182W;ENSP00000440804:R131W	ENSP00000225665:R182W	R	-	1	2	SLC25A11	4782554	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	1.699000	0.37804	0.632000	0.30432	0.563000	0.77884	CGG		0.602	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216852.4	NM_003562		3	141	0	0	0	1	0	3	141				
CT83	203413	broad.mit.edu	37	X	115593103	115593103	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chrX:115593103A>T	ENST00000371894.4	-	2	293	c.147T>A	c.(145-147)atT>atA	p.I49I		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN		49						integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(3)|lung(8)	12						TATTGCTGTTAATTAACCCAG	0.393																																						ENST00000371894.4																			0				breast(1)|large_intestine(3)|lung(8)	12						c.(145-147)atT>atA		chromosome X open reading frame 61							127.0	112.0	117.0					X																	115593103		2203	4300	6503	SO:0001819	synonymous_variant	203413					integral to membrane|plasma membrane		g.chrX:115593103A>T																												ENST00000371894.4:c.147T>A	X.37:g.115593103A>T			Somatic					p.I49I	NM_001017978.2	NP_001017978.1	WXS	Illumina GAIIx	Phase_I	Q5H943	KKLC1_HUMAN			2	293	-			49						Silent	SNP	ENST00000371894.4	37	c.147T>A	CCDS35372.1																																																																																				0.393	CXorf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057985.1			5	338	0	0	0	1	0	5	338				
DOCK11	139818	broad.mit.edu	37	X	117742192	117742192	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chrX:117742192A>T	ENST00000276202.7	+	26	2814		c.e26-1		DOCK11_ENST00000276204.6_Splice_Site	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11						blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GTTTATTTGTAGTATAGCTTC	0.363																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.e26-1		dedicator of cytokinesis 11							55.0	54.0	54.0					X																	117742192		2203	4300	6503	SO:0001630	splice_region_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117742192A>T	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.2752-1A>T	X.37:g.117742192A>T			Somatic				DOCK11_ENST00000276202.7_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q5JSL3	DOC11_HUMAN			26	2825	+								A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Splice_Site	SNP	ENST00000276202.7	37		CCDS35373.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809442	0.70797	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5447	0.68020	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK11	117626220	1.000000	0.71417	0.997000	0.53966	0.679000	0.39708	8.473000	0.90410	2.034000	0.60081	0.486000	0.48141	.		0.363	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	Intron	4	142	0	0	0	1	0	4	142				
DCSTAMP	81501	broad.mit.edu	37	8	105360904	105360904	+	Missense_Mutation	SNP	A	A	T	rs201921514		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:105360904A>T	ENST00000297581.2	+	2	173	c.124A>T	c.(124-126)Att>Ttt	p.I42F	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.I42F	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	42					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											GGTTGCTCTTATTTCAGTGGG	0.507																																						ENST00000297581.2																			0											c.(124-126)Att>Ttt		dendrocyte expressed seven transmembrane protein							165.0	147.0	153.0					8																	105360904		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105360904A>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.124A>T	8.37:g.105360904A>T	ENSP00000297581:p.Ile42Phe		Somatic				DCSTAMP_ENST00000517991.1_Missense_Mutation_p.I42F|DPYS_ENST00000521601.1_Intron	p.I42F	NM_030788.3	NP_110415.1	WXS	Illumina GAIIx	Phase_I	Q9H295	TM7S4_HUMAN			2	173	+			42					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.124A>T	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.944527	0.53079	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.32023	1.47	5.51	-0.00361	0.14025	.	0.482837	0.21524	N	0.073180	T	0.24353	0.0590	M	0.67953	2.075	0.09310	N	0.999999	P	0.50272	0.933	B	0.39706	0.307	T	0.16928	-1.0386	9	.	.	.	-3.3922	4.1896	0.10414	0.3975:0.4141:0.0728:0.1155	.	42	Q9H295	TM7S4_HUMAN	F	42	ENSP00000297581:I42F	.	I	+	1	0	TM7SF4	105430080	0.001000	0.12720	0.025000	0.17156	0.896000	0.52359	-0.063000	0.11655	-0.217000	0.10033	0.533000	0.62120	ATT		0.507	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		7	532	0	0	0	1	0	7	532				
PPIL4	85313	broad.mit.edu	37	6	149838510	149838510	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr6:149838510A>C	ENST00000253329.2	-	11	1091	c.1059T>G	c.(1057-1059)gaT>gaG	p.D353E	RNU7-3P_ENST00000516435.1_RNA|PPIL4_ENST00000340881.2_5'UTR	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	353	Lys-rich.				protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		GCTTTACTTTATCTTTCAGAA	0.328																																						ENST00000253329.2																			0				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13						c.(1057-1059)gaT>gaG		peptidylprolyl isomerase (cyclophilin)-like 4							165.0	141.0	149.0					6																	149838510		2203	4299	6502	SO:0001583	missense	85313				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	g.chr6:149838510A>C		CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.1059T>G	6.37:g.149838510A>C	ENSP00000253329:p.Asp353Glu		Somatic				PPIL4_ENST00000340881.2_5'UTR	p.D353E	NM_139126.3	NP_624311.1	WXS	Illumina GAIIx	Phase_I	Q8WUA2	PPIL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)	11	1091	-		Ovarian(120;0.0164)	353			Lys-rich.		B2RD34|Q7Z3Q5	Missense_Mutation	SNP	ENST00000253329.2	37	c.1059T>G	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	A	7.960	0.746784	0.15710	.	.	ENSG00000131013	ENST00000253329	T	0.13196	2.61	5.83	1.84	0.25277	.	0.230580	0.50627	N	0.000103	T	0.01189	0.0039	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.41680	-0.9495	10	0.07482	T	0.82	.	0.2616	0.00219	0.3104:0.2145:0.1488:0.3263	.	353;353	B3KRR4;Q8WUA2	.;PPIL4_HUMAN	E	353	ENSP00000253329:D353E	ENSP00000253329:D353E	D	-	3	2	PPIL4	149880203	0.937000	0.31787	1.000000	0.80357	0.988000	0.76386	0.008000	0.13197	0.438000	0.26450	0.402000	0.26972	GAT		0.328	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			7	44	0	0	0	1	0	7	44				
TAF1	6872	broad.mit.edu	37	X	70643015	70643015	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chrX:70643015G>T	ENST00000373790.4	+	30	4549	c.4498G>T	c.(4498-4500)Gat>Tat	p.D1500Y	TAF1_ENST00000423759.1_Missense_Mutation_p.D1521Y|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000276072.3_Missense_Mutation_p.D1521Y|TAF1_ENST00000449580.1_Missense_Mutation_p.D1500Y	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1500	Interaction with ASF1A and ASF1B.|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CCCCTTGCTGGATGATGATGA	0.423																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(4498-4500)Gat>Tat		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							165.0	130.0	142.0					X																	70643015		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70643015G>T		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4498G>T	X.37:g.70643015G>T	ENSP00000362895:p.Asp1500Tyr		Somatic				TAF1_ENST00000276072.3_Missense_Mutation_p.D1521Y|TAF1_ENST00000423759.1_Missense_Mutation_p.D1521Y|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000373790.4_Missense_Mutation_p.D1500Y	p.D1500Y			WXS	Illumina GAIIx	Phase_I	P21675	TAF1_HUMAN			30	4549	+	Renal(35;0.156)	all_lung(315;0.000321)	1500			Interaction with ASF1A and ASF1B.|Protein kinase 2.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.4498G>T	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	21.6|21.6	4.175260|4.175260	0.78564|0.78564	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000538124;ENST00000276072|ENST00000437147	T;T;T;T|.	0.10860|.	2.84;2.92;2.89;2.83|.	4.65|4.65	4.65|4.65	0.58169|0.58169	Bromodomain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74351|0.74351	0.3705|0.3705	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.77004|.	0.989;0.968;0.978|.	T|T	0.75436|0.75436	-0.3318|-0.3318	10|5	0.87932|.	D|.	0|.	.|.	17.0501|17.0501	0.86516|0.86516	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1500;1500;1521|.	P21675-4;P21675;P21675-2|.	.;TAF1_HUMAN;.|.	Y|C	1500;1500;1521;206;206;1521|154	ENSP00000362895:D1500Y;ENSP00000389000:D1500Y;ENSP00000406549:D1521Y;ENSP00000276072:D1521Y|.	ENSP00000276072:D1521Y|.	D|W	+|+	1|3	0|0	TAF1|TAF1	70559740|70559740	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.420000|9.420000	0.97426|0.97426	2.033000|2.033000	0.60031|0.60031	0.544000|0.544000	0.68410|0.68410	GAT|TGG		0.423	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		33	140	1	0	8.16721e-17	1	8.86328e-17	33	140				
MACF1	23499	broad.mit.edu	37	1	39908161	39908161	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:39908161T>C	ENST00000372915.3	+	76	18810	c.18723T>C	c.(18721-18723)caT>caC	p.H6241H	MACF1_ENST00000567887.1_Silent_p.H6379H|MACF1_ENST00000564288.1_Silent_p.H6342H|MACF1_ENST00000289893.4_Silent_p.H4785H|MACF1_ENST00000539005.1_Silent_p.H4153H|MACF1_ENST00000317713.7_Silent_p.H4283H|MACF1_ENST00000545844.1_Silent_p.H4283H|MACF1_ENST00000361689.2_Silent_p.H4283H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6241					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCTGACTCATACCGAAGAGT	0.438																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(19024-19026)caT>caC		microtubule-actin crosslinking factor 1							66.0	67.0	66.0					1																	39908161		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39908161T>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18723T>C	1.37:g.39908161T>C			Somatic				MACF1_ENST00000567887.1_Silent_p.H6379H|MACF1_ENST00000545844.1_Silent_p.H4283H|MACF1_ENST00000289893.4_Silent_p.H4785H|MACF1_ENST00000361689.2_Silent_p.H4283H|MACF1_ENST00000317713.7_Silent_p.H4283H|MACF1_ENST00000539005.1_Silent_p.H4153H|MACF1_ENST00000372915.3_Silent_p.H6241H	p.H6342H			WXS	Illumina GAIIx	Phase_I	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		77	19803	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6350					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.19026T>C		.	.	.	.	.	.	.	.	.	.	T	7.388	0.630176	0.14257	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.03	3.07	0.35406	.	.	.	.	.	T	0.60495	0.2273	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56980	-0.7889	4	.	.	.	.	10.9178	0.47146	0.0:0.7977:0.0:0.2023	.	.	.	.	H	3287	.	.	Y	+	1	0	MACF1	39680748	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.727000	0.47311	0.876000	0.35872	-0.177000	0.13119	TAC		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		12	159	0	0	0	1	0	12	159				
HMCN1	83872	broad.mit.edu	37	1	186158774	186158774	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:186158774A>G	ENST00000271588.4	+	107	16901	c.16672A>G	c.(16672-16674)Aca>Gca	p.T5558A	HMCN1_ENST00000367492.2_Missense_Mutation_p.T5441A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5558					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGTTGCATACACACAGGATGG	0.468																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(16672-16674)Aca>Gca		hemicentin 1							82.0	70.0	74.0					1																	186158774		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186158774A>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16672A>G	1.37:g.186158774A>G	ENSP00000271588:p.Thr5558Ala		Somatic				HMCN1_ENST00000367492.2_Missense_Mutation_p.T5441A	p.T5558A	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			107	16901	+			5558					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.16672A>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.888503	0.91814	.	.	ENSG00000143341	ENST00000271588;ENST00000367492;ENST00000414277	T;T;T	0.75704	-0.1;-0.09;-0.96	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.83069	0.5174	L	0.56769	1.78	0.42764	D	0.993819	D	0.76494	0.999	D	0.78314	0.991	T	0.80362	-0.1414	10	0.23302	T	0.38	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	5558	Q96RW7	HMCN1_HUMAN	A	5558;5441;233	ENSP00000271588:T5558A;ENSP00000356462:T5441A;ENSP00000406205:T233A	ENSP00000271588:T5558A	T	+	1	0	HMCN1	184425397	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.240000	0.72363	2.254000	0.74563	0.533000	0.62120	ACA		0.468	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		37	111	0	0	0	1	0	37	111				
PPP1R7	5510	broad.mit.edu	37	2	242102749	242102749	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:242102749G>C	ENST00000234038.6	+	7	1121	c.647G>C	c.(646-648)gGg>gCg	p.G216A	PPP1R7_ENST00000406106.3_Missense_Mutation_p.G216A|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000407025.1_Missense_Mutation_p.G216A|PPP1R7_ENST00000402734.1_Missense_Mutation_p.G157A|PPP1R7_ENST00000404405.3_Missense_Mutation_p.G210A|PPP1R7_ENST00000272983.8_Missense_Mutation_p.G173A|PPP1R7_ENST00000401987.1_Missense_Mutation_p.G173A	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	216					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TTGTTTTTGGGGAAAAACAAA	0.493																																					NSCLC(62;446 1299 5417 11238 27640)	ENST00000234038.6																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23						c.(646-648)gGg>gCg		protein phosphatase 1, regulatory subunit 7							141.0	153.0	149.0					2																	242102749		2203	4300	6503	SO:0001583	missense	5510					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	g.chr2:242102749G>C	AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9295	protein-coding gene	gene with protein product		602877	"""protein phosphatase 1, regulatory (inhibitor) subunit 7"""			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.647G>C	2.37:g.242102749G>C	ENSP00000234038:p.Gly216Ala		Somatic				PPP1R7_ENST00000401987.1_Missense_Mutation_p.G173A|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000272983.8_Missense_Mutation_p.G173A|PPP1R7_ENST00000407025.1_Missense_Mutation_p.G216A|PPP1R7_ENST00000406106.3_Missense_Mutation_p.G216A|PPP1R7_ENST00000404405.3_Missense_Mutation_p.G210A|PPP1R7_ENST00000402734.1_Missense_Mutation_p.G157A	p.G216A	NM_002712.1	NP_002703.1	WXS	Illumina GAIIx	Phase_I	Q15435	PP1R7_HUMAN		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)	7	1121	+		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	216					B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Missense_Mutation	SNP	ENST00000234038.6	37	c.647G>C	CCDS2546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.927967|4.927967	0.92389|0.92389	.|.	.|.	ENSG00000115685|ENSG00000115685	ENST00000438799;ENST00000402734;ENST00000423280;ENST00000407025;ENST00000272983;ENST00000234038;ENST00000404405;ENST00000406106;ENST00000401987|ENST00000450367	T;T;T;T;T;T;T;T;T|T	0.23950|0.23754	1.88;1.88;1.88;1.88;1.88;1.88;2.26;1.88;1.88|1.89	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.25531|0.25531	0.0621|0.0621	N|N	0.10809|0.10809	0.05|0.05	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	1.0;1.0;0.999;1.0;0.996;1.0|.	T|T	0.21552|0.21552	-1.0242|-1.0242	10|8	0.51188|0.66056	T|D	0.08|0.02	-28.8491|-28.8491	18.7368|18.7368	0.91757|0.91757	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	200;157;173;216;216;210|.	C9JD73;C9J177;Q15435-2;Q15435;Q15435-3;B5MBZ8|.	.;.;.;PP1R7_HUMAN;.;.|.	A|R	200;157;157;216;173;216;210;216;173|191	ENSP00000396376:G200A;ENSP00000385012:G157A;ENSP00000412092:G157A;ENSP00000385657:G216A;ENSP00000272983:G173A;ENSP00000234038:G216A;ENSP00000385498:G210A;ENSP00000385022:G216A;ENSP00000385466:G173A|ENSP00000392373:G191R	ENSP00000234038:G216A|ENSP00000392373:G191R	G|G	+|+	2|1	0|0	PPP1R7|PPP1R7	241751422|241751422	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.503000|9.503000	0.97984|0.97984	2.488000|2.488000	0.83962|0.83962	0.655000|0.655000	0.94253|0.94253	GGG|GGA		0.493	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712		33	254	0	0	0	1	0	33	254				
TPT1	7178	broad.mit.edu	37	13	45914269	45914269	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr13:45914269A>G	ENST00000530705.1	-	3	453	c.153T>C	c.(151-153)aaT>aaC	p.N51N	TPT1-AS1_ENST00000517509.1_RNA|TPT1_ENST00000379055.1_Silent_p.N17N|TPT1_ENST00000379056.1_Silent_p.N17N|RP11-290D2.6_ENST00000610057.1_RNA|TPT1-AS1_ENST00000521336.1_RNA|TPT1-AS1_ENST00000520590.1_RNA|TPT1_ENST00000309246.5_Silent_p.N51N|TPT1-AS1_ENST00000520622.1_RNA|TPT1-AS1_ENST00000523506.1_RNA|TPT1_ENST00000379060.4_Silent_p.N39N|SNORA31_ENST00000362607.1_RNA|TPT1-AS1_ENST00000412946.2_RNA|TPT1-AS1_ENST00000520310.1_RNA|TPT1_ENST00000529421.1_5'UTR			P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	51					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ectoderm development (GO:2000384)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|regulation of apoptotic process (GO:0042981)|response to virus (GO:0009615)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|multivesicular body (GO:0005771)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		CAGCGGAGGCATTTCCACCAA	0.453																																						ENST00000379056.1																			0				lung(1)	1						c.(49-51)aaT>aaC		tumor protein, translationally-controlled 1							112.0	106.0	108.0					13																	45914269		2203	4300	6503	SO:0001819	synonymous_variant	7178				anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding	g.chr13:45914269A>G	X16064	CCDS9397.1, CCDS66538.1, CCDS73566.1	13q14	2010-08-18			ENSG00000133112	ENSG00000133112			12022	protein-coding gene	gene with protein product		600763				2813067, 10343127	Standard	NM_001286273		Approved	TCTP, fortilin	uc001uzy.1	P13693	OTTHUMG00000016845	ENST00000530705.1:c.153T>C	13.37:g.45914269A>G			Somatic				TPT1_ENST00000379060.4_Silent_p.N39N|TPT1_ENST00000379055.1_Silent_p.N17N|TPT1_ENST00000309246.5_Silent_p.N51N|TPT1_ENST00000529421.1_5'UTR|TPT1_ENST00000530705.1_Silent_p.N51N	p.N17N			WXS	Illumina GAIIx	Phase_I	P13693	TCTP_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)	2	221	-		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	51					B2R7E5|Q6YLS2|Q7Z4J4|Q8TBK7|Q96EE2|Q9UC70	Silent	SNP	ENST00000530705.1	37	c.51T>C	CCDS9397.1																																																																																				0.453	TPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044758.3			19	92	0	0	0	1	0	19	92				
OSBPL8	114882	broad.mit.edu	37	12	76750433	76750433	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr12:76750433A>T	ENST00000261183.3	-	23	2989	c.2510T>A	c.(2509-2511)aTa>aAa	p.I837K	OSBPL8_ENST00000393249.2_Missense_Mutation_p.I795K|OSBPL8_ENST00000393250.4_Missense_Mutation_p.I795K	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	837					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TGTTTGTTTTATAGATTCGAT	0.318																																						ENST00000261183.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						c.(2509-2511)aTa>aAa		oxysterol binding protein-like 8							179.0	176.0	177.0					12																	76750433		2202	4299	6501	SO:0001583	missense	114882				lipid transport		lipid binding	g.chr12:76750433A>T	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.2510T>A	12.37:g.76750433A>T	ENSP00000261183:p.Ile837Lys		Somatic				OSBPL8_ENST00000393249.2_Missense_Mutation_p.I795K|OSBPL8_ENST00000393250.4_Missense_Mutation_p.I795K	p.I837K	NM_020841.4	NP_065892.1	WXS	Illumina GAIIx	Phase_I	Q9BZF1	OSBL8_HUMAN			23	2989	-			837					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	c.2510T>A	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.696658	0.88830	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250	T;T;T	0.41065	1.05;1.01;1.05	5.87	5.87	0.94306	.	0.087185	0.85682	D	0.000000	T	0.52917	0.1764	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.68943	0.961	T	0.54964	-0.8214	10	0.62326	D	0.03	-21.2753	16.2377	0.82389	1.0:0.0:0.0:0.0	.	837	Q9BZF1	OSBL8_HUMAN	K	795;837;822;795	ENSP00000376939:I795K;ENSP00000261183:I837K;ENSP00000376940:I795K	ENSP00000261183:I837K	I	-	2	0	OSBPL8	75274564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.746000	0.74866	2.371000	0.80710	0.533000	0.62120	ATA		0.318	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		4	63	0	0	0	1	0	4	63				
WASL	8976	broad.mit.edu	37	7	123332672	123332672	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr7:123332672G>T	ENST00000223023.4	-	9	1408	c.1076C>A	c.(1075-1077)cCa>cAa	p.P359Q		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	359	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGTGGTGGTGGAGGCCCTGA	0.672																																						ENST00000223023.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1075-1077)cCa>cAa		Wiskott-Aldrich syndrome-like							76.0	80.0	78.0					7																	123332672		2203	4300	6503	SO:0001583	missense	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123332672G>T	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1076C>A	7.37:g.123332672G>T	ENSP00000223023:p.Pro359Gln		Somatic					p.P359Q	NM_003941.2	NP_003932.3	WXS	Illumina GAIIx	Phase_I	O00401	WASL_HUMAN			9	1408	-			359			Pro-rich.		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	c.1076C>A	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154489	0.57259	.	.	ENSG00000106299	ENST00000223023	D	0.92299	-3.01	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.95790	0.8630	M	0.82517	2.595	0.80722	D	1	D	0.65815	0.995	P	0.59221	0.854	D	0.95924	0.8933	10	0.62326	D	0.03	-12.2263	19.2285	0.93827	0.0:0.0:1.0:0.0	.	359	O00401	WASL_HUMAN	Q	359	ENSP00000223023:P359Q	ENSP00000223023:P359Q	P	-	2	0	WASL	123119908	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.283000	0.78640	2.532000	0.85374	0.650000	0.86243	CCA		0.672	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		31	83	1	0	1.36615e-20	1	1.49962e-20	31	83				
GJA10	84694	broad.mit.edu	37	6	90604653	90604653	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr6:90604653A>T	ENST00000369352.1	+	1	466	c.466A>T	c.(466-468)Act>Tct	p.T156S		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	156					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.T156A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCTGCTGCGTACTTATGTCTT	0.438																																						ENST00000369352.1																			1	Substitution - Missense(1)	p.T156A(1)	urinary_tract(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37						c.(466-468)Act>Tct		gap junction protein, alpha 10, 62kDa							133.0	128.0	130.0					6																	90604653		2203	4300	6503	SO:0001583	missense	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90604653A>T	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.466A>T	6.37:g.90604653A>T	ENSP00000358358:p.Thr156Ser		Somatic					p.T156S	NM_032602.1	NP_115991.1	WXS	Illumina GAIIx	Phase_I	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	466	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	156					B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	c.466A>T	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.824908	0.71143	.	.	ENSG00000135355	ENST00000369352	D	0.97941	-4.62	4.91	3.76	0.43208	.	0.000000	0.85682	D	0.000000	D	0.97832	0.9288	M	0.70595	2.14	0.47778	D	0.999518	D	0.89917	1.0	D	0.91635	0.999	D	0.97832	1.0263	10	0.56958	D	0.05	.	11.8107	0.52181	0.8436:0.1564:0.0:0.0	.	156	Q969M2	CXA10_HUMAN	S	156	ENSP00000358358:T156S	ENSP00000358358:T156S	T	+	1	0	GJA10	90661374	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	7.187000	0.77730	0.905000	0.36596	0.460000	0.39030	ACT		0.438	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		7	395	0	0	0	1	0	7	395				
DENND4A	10260	broad.mit.edu	37	15	65983659	65983659	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr15:65983659A>T	ENST00000431932.2	-	22	3349	c.3141T>A	c.(3139-3141)atT>atA	p.I1047I	DENND4A_ENST00000443035.3_Silent_p.I1090I|DENND4A_ENST00000567323.1_5'Flank	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1047					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTTCCTGGTTAATTCTATTGA	0.388																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(3268-3270)atT>atA		DENN/MADD domain containing 4A							75.0	65.0	68.0					15																	65983659		1808	4078	5886	SO:0001819	synonymous_variant	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65983659A>T	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.3141T>A	15.37:g.65983659A>T			Somatic				DENND4A_ENST00000431932.2_Silent_p.I1047I	p.I1090I	NM_001144823.1	NP_001138295.1	WXS	Illumina GAIIx	Phase_I	Q7Z401	MYCPP_HUMAN			23	3485	-			1047					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Silent	SNP	ENST00000431932.2	37	c.3270T>A	CCDS45285.1																																																																																				0.388	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		4	58	0	0	0	1	0	4	58				
ADAM22	53616	broad.mit.edu	37	7	87607649	87607649	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr7:87607649A>T	ENST00000265727.7	+	3	325		c.e3-1		ADAM22_ENST00000398209.3_Splice_Site|ADAM22_ENST00000315984.7_Splice_Site|ADAM22_ENST00000398204.4_Splice_Site|ADAM22_ENST00000398201.4_Splice_Site|ADAM22_ENST00000439864.1_Splice_Site			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22						adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TTGATATTGTAGTTGACTCAT	0.343																																						ENST00000398204.4																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.e3-1		ADAM metallopeptidase domain 22							174.0	153.0	160.0					7																	87607649		1867	4100	5967	SO:0001630	splice_region_variant	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87607649A>T	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.247-1A>T	7.37:g.87607649A>T			Somatic				ADAM22_ENST00000265727.7_Splice_Site|ADAM22_ENST00000398201.4_Splice_Site|ADAM22_ENST00000398209.3_Splice_Site|ADAM22_ENST00000439864.1_Splice_Site|ADAM22_ENST00000315984.7_Splice_Site		NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	WXS	Illumina GAIIx	Phase_I	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	569	+	Esophageal squamous(14;0.00202)							O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Splice_Site	SNP	ENST00000265727.7	37		CCDS47637.1	.	.	.	.	.	.	.	.	.	.	A	9.125	1.010021	0.19277	.	.	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000412441;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	.	.	.	5.43	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0263	0.36232	0.9148:0.0:0.0852:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM22	87445585	1.000000	0.71417	0.984000	0.44739	0.036000	0.12997	6.810000	0.75216	0.901000	0.36495	-0.467000	0.05162	.		0.343	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723	Intron	5	143	0	0	0	1	0	5	143				
RTN1	6252	broad.mit.edu	37	14	60074085	60074085	+	Missense_Mutation	SNP	C	C	T	rs562790436		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr14:60074085C>T	ENST00000267484.5	-	4	2226	c.1891G>A	c.(1891-1893)Gca>Aca	p.A631T	RTN1_ENST00000395090.1_Missense_Mutation_p.A48T|RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_Missense_Mutation_p.A63T	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	631	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCTGAGAGTGCGGCCAGGGCC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18987	0.001		0.0	False		,,,				2504	0.0					ENST00000267484.5																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(1891-1893)Gca>Aca		reticulon 1							81.0	71.0	75.0					14																	60074085		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60074085C>T	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1891G>A	14.37:g.60074085C>T	ENSP00000267484:p.Ala631Thr		Somatic				RTN1_ENST00000342503.4_Missense_Mutation_p.A63T|RTN1_ENST00000395090.1_Missense_Mutation_p.A48T|RTN1_ENST00000557422.1_5'UTR	p.A631T	NM_021136.2	NP_066959.1	WXS	Illumina GAIIx	Phase_I	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	4	2226	-			631			Reticulon.		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.1891G>A	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036110	0.75617	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000395090;ENST00000342503;ENST00000433623	T;T;T	0.45276	0.9;0.9;0.9	5.99	5.99	0.97316	.	0.145349	0.64402	D	0.000009	T	0.61652	0.2364	L	0.49350	1.555	0.54753	D	0.999983	P;D;B	0.89917	0.508;1.0;0.452	B;D;B	0.72075	0.212;0.976;0.135	T	0.56565	-0.7958	10	0.48119	T	0.1	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	48;631;63	A8MT72;Q16799;Q16799-3	.;RTN1_HUMAN;.	T	211;631;48;63;557	ENSP00000267484:A631T;ENSP00000378525:A48T;ENSP00000340716:A63T	ENSP00000267484:A631T	A	-	1	0	RTN1	59143838	1.000000	0.71417	0.276000	0.24689	0.937000	0.57800	4.837000	0.62796	2.840000	0.97914	0.655000	0.94253	GCA		0.567	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			3	143	0	0	0	1	0	3	143				
EFCAB5	374786	broad.mit.edu	37	17	28378134	28378134	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr17:28378134A>T	ENST00000394835.3	+	9	1392		c.e9-1		EFCAB5_ENST00000394832.2_Splice_Site|EFCAB5_ENST00000541045.1_Splice_Site|EFCAB5_ENST00000378738.3_Splice_Site|EFCAB5_ENST00000320856.5_Splice_Site|EFCAB5_ENST00000536908.2_Splice_Site	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5								calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTCTTTGCTTAGGTAGGGTTT	0.398																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.e9-1		EF-hand calcium binding domain 5							94.0	82.0	86.0					17																	28378134		1856	4092	5948	SO:0001630	splice_region_variant	374786						calcium ion binding	g.chr17:28378134A>T	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1201-1A>T	17.37:g.28378134A>T			Somatic				EFCAB5_ENST00000394832.2_Splice_Site|EFCAB5_ENST00000536908.2_Splice_Site|EFCAB5_ENST00000541045.1_Splice_Site|EFCAB5_ENST00000378738.3_Splice_Site|EFCAB5_ENST00000320856.5_Splice_Site		NM_198529.3	NP_940931.2	WXS	Illumina GAIIx	Phase_I	A4FU69	EFCB5_HUMAN			9	1392	+								B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Splice_Site	SNP	ENST00000394835.3	37		CCDS11254.2	.	.	.	.	.	.	.	.	.	.	A	15.61	2.883708	0.51908	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5373	0.61653	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EFCAB5	25402260	1.000000	0.71417	0.951000	0.38953	0.477000	0.33069	5.798000	0.69095	2.068000	0.61886	0.533000	0.62120	.		0.398	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529	Intron	4	118	0	0	0	1	0	4	118				
APEH	327	broad.mit.edu	37	3	49719983	49719983	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:49719983C>T	ENST00000296456.5	+	19	2097	c.1697C>T	c.(1696-1698)gCa>gTa	p.A566V	AC099668.5_ENST00000563780.1_RNA|APEH_ENST00000438011.1_Missense_Mutation_p.A566V	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	566					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTGCAGTTTGCAGTGGAACAG	0.577																																						ENST00000296456.5																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(1696-1698)gCa>gTa		acylaminoacyl-peptide hydrolase							179.0	171.0	174.0					3																	49719983		2203	4300	6503	SO:0001583	missense	327				proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	g.chr3:49719983C>T	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.1697C>T	3.37:g.49719983C>T	ENSP00000296456:p.Ala566Val		Somatic				APEH_ENST00000438011.1_Missense_Mutation_p.A566V	p.A566V	NM_001640.3	NP_001631.3	WXS	Illumina GAIIx	Phase_I	P13798	ACPH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	19	2097	+			566					Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1697C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609965	0.66558	.	.	ENSG00000164062	ENST00000296456;ENST00000438011	T;T	0.30448	1.53;1.53	5.48	5.48	0.80851	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.045893	0.85682	D	0.000000	T	0.53753	0.1816	M	0.84219	2.685	0.80722	D	1	D;P	0.57257	0.979;0.923	P;P	0.57057	0.812;0.728	T	0.58434	-0.7637	10	0.54805	T	0.06	-33.4128	15.6847	0.77400	0.0:0.8629:0.137:0.0	.	566;566	C9JIF9;P13798	.;ACPH_HUMAN	V	566	ENSP00000296456:A566V;ENSP00000415862:A566V	ENSP00000296456:A566V	A	+	2	0	APEH	49694987	0.996000	0.38824	1.000000	0.80357	0.209000	0.24338	3.230000	0.51286	2.566000	0.86566	0.655000	0.94253	GCA		0.577	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			4	112	0	0	0	1	0	4	112				
HTR1A	3350	broad.mit.edu	37	5	63257288	63257288	+	Missense_Mutation	SNP	C	C	G	rs201675006		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr5:63257288C>G	ENST00000323865.3	-	1	492	c.259G>C	c.(259-261)Gtg>Ctg	p.V87L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	87					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AGCACCAACACCGACACCATG	0.602																																						ENST00000323865.3																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(259-261)Gtg>Ctg		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						47.0	50.0	49.0					5																	63257288		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257288C>G	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.259G>C	5.37:g.63257288C>G	ENSP00000316244:p.Val87Leu		Somatic				RP11-158J3.2_ENST00000502882.1_RNA	p.V87L	NM_000524.3	NP_000515.2	WXS	Illumina GAIIx	Phase_I	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	492	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	87					Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.259G>C	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598758	0.66332	.	.	ENSG00000178394	ENST00000323865	T	0.32753	1.44	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.27866	0.0686	L	0.39245	1.2	0.80722	D	1	B	0.33919	0.432	B	0.37047	0.24	T	0.04029	-1.0983	10	0.12430	T	0.62	.	16.6418	0.85128	0.0:1.0:0.0:0.0	.	87	P08908	5HT1A_HUMAN	L	87	ENSP00000316244:V87L	ENSP00000316244:V87L	V	-	1	0	HTR1A	63293044	0.992000	0.36948	0.998000	0.56505	0.965000	0.64279	2.755000	0.47540	2.170000	0.68504	0.561000	0.74099	GTG		0.602	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		10	54	0	0	0	1	0	10	54				
MMD	23531	broad.mit.edu	37	17	53471706	53471706	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr17:53471706G>A	ENST00000262065.3	-	7	1002	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	236					cytolysis (GO:0019835)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CATAAATGCCGCATAAAGTCC	0.458																																						ENST00000262065.3																			0				breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(706-708)Cgg>Tgg		monocyte to macrophage differentiation-associated							118.0	122.0	121.0					17																	53471706		2203	4300	6503	SO:0001583	missense	23531				cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity	g.chr17:53471706G>A	X85750	CCDS11586.1	17q	2008-05-02				ENSG00000108960			7153	protein-coding gene	gene with protein product		604467				7503749, 16044242	Standard	NM_012329		Approved	MMA, PAQR11	uc002iui.3	Q15546		ENST00000262065.3:c.706C>T	17.37:g.53471706G>A	ENSP00000262065:p.Arg236Trp		Somatic					p.R236W	NM_012329.2	NP_036461.2	WXS	Illumina GAIIx	Phase_I	Q15546	PAQRB_HUMAN			7	1002	-			236					B2R6X9|D3DTY6|Q8TAN7	Missense_Mutation	SNP	ENST00000262065.3	37	c.706C>T	CCDS11586.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647525	0.47258	.	.	ENSG00000108960	ENST00000262065	.	.	.	6.06	5.08	0.68730	.	0.916312	0.09275	N	0.824547	T	0.43233	0.1238	L	0.36672	1.1	0.47153	D	0.999337	D	0.56287	0.975	B	0.33521	0.165	T	0.49331	-0.8951	9	0.72032	D	0.01	-16.4287	15.9549	0.79880	0.0:0.0:0.8643:0.1357	.	236	Q15546	PAQRB_HUMAN	W	236	.	ENSP00000262065:R236W	R	-	1	2	MMD	50826705	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.503000	0.53340	1.558000	0.49541	0.643000	0.83706	CGG		0.458	MMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439214.1			5	760	0	0	0	1	0	5	760				
MCMBP	79892	broad.mit.edu	37	10	121587100	121587100	+	IGR	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr10:121587100T>A	ENST00000360003.3	-	0	4113				INPP5F_ENST00000361976.2_Silent_p.S1069S|INPP5F_ENST00000369080.3_Silent_p.S459S	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						GAGCAGTCTCTCCCTTTGCCA	0.478																																						ENST00000361976.2																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(3205-3207)tcT>tcA		inositol polyphosphate-5-phosphatase F							101.0	100.0	101.0					10																	121587100		2203	4300	6503	SO:0001628	intergenic_variant	22876						phosphoric ester hydrolase activity	g.chr10:121587100T>A	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121587100T>A			Somatic				INPP5F_ENST00000369080.3_Silent_p.S459S	p.S1069S	NM_014937.3	NP_055752.1	WXS	Illumina GAIIx	Phase_I	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	20	3373	+		Lung NSC(174;0.109)|all_lung(145;0.142)	1069					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Silent	SNP	ENST00000360003.3	37	c.3207T>A	CCDS7617.1																																																																																				0.478	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		53	161	0	0	0	1	0	53	161				
PRG3	10394	broad.mit.edu	37	11	57147060	57147060	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr11:57147060C>T	ENST00000287143.2	-	3	391	c.282G>A	c.(280-282)agG>agA	p.R94R		NM_006093.3	NP_006084.2	Q8TBJ4	LPPR1_HUMAN	proteoglycan 3	0					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						TGTCTTCTTCCCTGGGGCACT	0.517																																					Melanoma(154;1456 2519 19358 45229)	ENST00000287143.2																			0				large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						c.(280-282)agG>agA		proteoglycan 3							132.0	115.0	121.0					11																	57147060		2201	4296	6497	SO:0001819	synonymous_variant	10394				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding	g.chr11:57147060C>T	AF132209	CCDS7954.1	11q12.1	2008-02-05			ENSG00000156575	ENSG00000156575			9363	protein-coding gene	gene with protein product		606814				10318872, 11170744	Standard	NM_006093		Approved	MBPH	uc001njv.2	Q9Y2Y8	OTTHUMG00000167026	ENST00000287143.2:c.282G>A	11.37:g.57147060C>T			Somatic					p.R94R	NM_006093.3	NP_006084.2	WXS	Illumina GAIIx	Phase_I	Q9Y2Y8	PRG3_HUMAN			3	391	-			94					Q5VX23|Q9NXE2	Silent	SNP	ENST00000287143.2	37	c.282G>A	CCDS7954.1																																																																																				0.517	PRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392467.1	NM_006093		7	28	0	0	0	1	0	7	28				
PPAPDC1A	196051	broad.mit.edu	37	10	122334715	122334715	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr10:122334715G>A	ENST00000398250.1	+	6	870	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.R163Q|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.R110Q|PPAPDC1A_ENST00000496437.1_3'UTR|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.R173Q	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	173					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GAGAGTGGGCGGGGAAAGAGC	0.577																																						ENST00000398250.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20						c.(517-519)cGg>cAg		phosphatidic acid phosphatase type 2 domain containing 1A							95.0	98.0	97.0					10																	122334715		2120	4246	6366	SO:0001583	missense	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122334715G>A	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.518G>A	10.37:g.122334715G>A	ENSP00000381302:p.Arg173Gln		Somatic				PPAPDC1A_ENST00000496437.1_3'UTR|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.R110Q|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.R173Q|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.R163Q	p.R173Q	NM_001030059.1	NP_001025230.1	WXS	Illumina GAIIx	Phase_I	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	6	870	+		Lung NSC(174;0.1)|all_lung(145;0.132)	173					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	c.518G>A	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973800	0.74246	.	.	ENSG00000203805	ENST00000439221;ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073	T;T;T;T	0.51817	0.69;0.7;0.72;0.69	5.52	5.52	0.82312	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.057717	0.64402	D	0.000001	T	0.39759	0.1090	L	0.49640	1.575	0.80722	D	1	P;P;B	0.40909	0.732;0.591;0.212	B;B;B	0.34418	0.182;0.049;0.087	T	0.34204	-0.9838	10	0.42905	T	0.14	-18.4168	12.7432	0.57266	0.075:0.0:0.925:0.0	.	173;110;173	B7Z3R3;Q5VZY2-2;Q5VZY2	.;.;PPC1A_HUMAN	Q	110;173;173;173;163	ENSP00000381302:R173Q;ENSP00000407979:R173Q;ENSP00000440493:R173Q;ENSP00000358069:R163Q	ENSP00000358069:R163Q	R	+	2	0	PPAPDC1A	122324705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.740000	0.74832	2.603000	0.88011	0.655000	0.94253	CGG		0.577	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		5	325	0	0	0	1	0	5	325				
LMO7	4008	broad.mit.edu	37	13	76369561	76369561	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr13:76369561G>A	ENST00000341547.4	+	6	1758	c.498G>A	c.(496-498)gtG>gtA	p.V166V	LMO7_ENST00000377534.3_Silent_p.V166V|LMO7_ENST00000526202.1_Silent_p.V75V|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000357063.3_Silent_p.V166V	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	166	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ACAGGAGAGTGAAAAATGTAA	0.313																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(496-498)gtG>gtA		LIM domain 7							89.0	90.0	90.0					13																	76369561		2203	4295	6498	SO:0001819	synonymous_variant	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76369561G>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.498G>A	13.37:g.76369561G>A			Somatic				LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000526202.1_Silent_p.V75V|LMO7_ENST00000377534.3_Silent_p.V166V|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000341547.4_Silent_p.V166V|RP11-29G8.3_ENST00000563635.1_RNA	p.V166V			WXS	Illumina GAIIx	Phase_I	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	6	1758	+		Breast(118;0.0992)	166			CH.		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Silent	SNP	ENST00000341547.4	37	c.498G>A	CCDS9454.1																																																																																				0.313	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358		22	102	0	0	0	1	0	22	102				
ZNF814	730051	broad.mit.edu	37	19	58385748	58385748	+	Missense_Mutation	SNP	G	G	A	rs145250945		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr19:58385748G>A	ENST00000435989.2	-	3	1244	c.1010C>T	c.(1009-1011)gCt>gTt	p.A337V	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	337					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A337V(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACTGAAGCTAGCATATTTGCT	0.353																																						ENST00000435989.2																			2	Substitution - Missense(2)	p.A337V(2)	prostate(2)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1009-1011)gCt>gTt		zinc finger protein 814							58.0	51.0	53.0					19																	58385748		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385748G>A		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1010C>T	19.37:g.58385748G>A	ENSP00000410545:p.Ala337Val		Somatic				ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron	p.A337V	NM_001144989.1	NP_001138461.1	WXS	Illumina GAIIx	Phase_I	B7Z6K7	ZN814_HUMAN			3	1244	-			337					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1010C>T	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	3.777	-0.046344	0.07407	.	.	ENSG00000204514	ENST00000435989	T	0.15372	2.43	2.11	-4.21	0.03812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07728	0.0194	N	0.21142	0.635	0.09310	N	1	B	0.32781	0.384	B	0.18561	0.022	T	0.05649	-1.0872	9	0.66056	D	0.02	.	3.5015	0.07674	0.0936:0.1206:0.3016:0.4843	.	337	B7Z6K7	ZN814_HUMAN	V	337	ENSP00000410545:A337V	ENSP00000410545:A337V	A	-	2	0	ZNF814	63077560	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.230000	0.01207	-3.525000	0.00147	-3.867000	0.00017	GCT		0.353	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	13	0	0	0	1	0	3	13				
HERC3	8916	broad.mit.edu	37	4	89577156	89577156	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr4:89577156G>A	ENST00000402738.1	+	9	1278	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T	HERC3_ENST00000407637.1_Missense_Mutation_p.A347T|HERC3_ENST00000543130.1_5'Flank|HERC3_ENST00000264345.3_Missense_Mutation_p.A347T	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	347					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TTACTGGGCTGCCCACAGTGG	0.433																																						ENST00000402738.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45						c.(1039-1041)Gcc>Acc		HECT and RLD domain containing E3 ubiquitin protein ligase 3							104.0	97.0	99.0					4																	89577156		2203	4300	6503	SO:0001583	missense	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89577156G>A	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.1039G>A	4.37:g.89577156G>A	ENSP00000385684:p.Ala347Thr		Somatic				HERC3_ENST00000264345.3_Missense_Mutation_p.A347T|HERC3_ENST00000407637.1_Missense_Mutation_p.A347T	p.A347T	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	WXS	Illumina GAIIx	Phase_I	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	9	1278	+			347					A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	c.1039G>A	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279780	0.40294	.	.	ENSG00000138641	ENST00000402738;ENST00000407637;ENST00000264345	T;T;T	0.80123	-1.34;0.95;-1.34	4.77	4.77	0.60923	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.331843	0.32258	N	0.006352	T	0.52885	0.1762	N	0.01576	-0.805	0.80722	D	1	B;P	0.39809	0.002;0.689	B;B	0.26094	0.014;0.066	T	0.62338	-0.6875	10	0.24483	T	0.36	.	18.0029	0.89202	0.0:0.0:1.0:0.0	.	347;347	Q15034;Q8IXX3	HERC3_HUMAN;.	T	347	ENSP00000385684:A347T;ENSP00000384005:A347T;ENSP00000264345:A347T	ENSP00000264345:A347T	A	+	1	0	HERC3	89796179	1.000000	0.71417	0.987000	0.45799	0.985000	0.73830	6.245000	0.72398	2.489000	0.83994	0.655000	0.94253	GCC		0.433	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		5	161	0	0	0	1	0	5	161				
MUC16	94025	broad.mit.edu	37	19	9082937	9082937	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr19:9082937C>A	ENST00000397910.4	-	1	9081	c.8878G>T	c.(8878-8880)Gaa>Taa	p.E2960*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2961	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAGGGGTTTCAGTAAAACCT	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(8878-8880)Gaa>Taa		mucin 16, cell surface associated							114.0	111.0	112.0					19																	9082937		1991	4195	6186	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9082937C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8878G>T	19.37:g.9082937C>A	ENSP00000381008:p.Glu2960*		Somatic					p.E2960*	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			1	9081	-			2961			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.8878G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	50	16.325286	0.99860	.	.	ENSG00000181143	ENST00000397910	.	.	.	0.723	-0.501	0.12008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	2960	.	ENSP00000381008:E2960X	E	-	1	0	MUC16	8943937	0.002000	0.14202	0.008000	0.14137	0.273000	0.26683	-0.193000	0.09573	-0.124000	0.11724	-0.736000	0.03550	GAA		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	275	1	0	0.000442599	1	0.000459437	8	275				
ASPM	259266	broad.mit.edu	37	1	197093276	197093276	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:197093276A>T	ENST00000367409.4	-	13	3610	c.3354T>A	c.(3352-3354)gaT>gaA	p.D1118E	ASPM_ENST00000294732.7_Missense_Mutation_p.D1118E|ASPM_ENST00000367408.1_Missense_Mutation_p.D368E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1118	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CATTTACCCAATCCATCAATA	0.274																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(3352-3354)gaT>gaA		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							93.0	93.0	93.0					1																	197093276		2202	4288	6490	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197093276A>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3354T>A	1.37:g.197093276A>T	ENSP00000356379:p.Asp1118Glu		Somatic				ASPM_ENST00000367408.1_Missense_Mutation_p.D368E|ASPM_ENST00000294732.7_Missense_Mutation_p.D1118E	p.D1118E	NM_018136.4	NP_060606.3	WXS	Illumina GAIIx	Phase_I	Q8IZT6	ASPM_HUMAN			13	3610	-			1118			CH 2.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.3354T>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.217878	0.39201	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.58652	0.32;0.32;0.32	5.62	-11.2	0.00127	Calponin homology domain (4);	0.472699	0.21551	N	0.072723	T	0.22936	0.0554	N	0.21194	0.64	0.24000	N	0.99622	B;P	0.40660	0.022;0.726	B;B	0.32583	0.007;0.148	T	0.19257	-1.0311	10	0.26408	T	0.33	.	4.0278	0.09695	0.2166:0.3492:0.3133:0.1208	.	1118;1118	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	E	1118;1118;368	ENSP00000356379:D1118E;ENSP00000294732:D1118E;ENSP00000356378:D368E	ENSP00000294732:D1118E	D	-	3	2	ASPM	195359899	0.186000	0.23225	0.465000	0.27155	0.999000	0.98932	-0.405000	0.07196	-2.134000	0.00812	0.528000	0.53228	GAT		0.274	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		10	68	0	0	0	1	0	10	68				
MAP3K12	7786	broad.mit.edu	37	12	53880961	53880961	+	Intron	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr12:53880961G>T	ENST00000267079.2	-	3	363				MAP3K12_ENST00000547488.1_Missense_Mutation_p.P72H|MAP3K12_ENST00000547151.1_Intron|MAP3K12_ENST00000547035.1_Missense_Mutation_p.P72H	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AGGCTCAGGGGGCGGCTCTCC	0.647																																						ENST00000547035.1																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(214-216)cCc>cAc		mitogen-activated protein kinase kinase kinase 12							44.0	45.0	44.0					12																	53880961		2203	4300	6503	SO:0001627	intron_variant	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53880961G>T	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.138-22C>A	12.37:g.53880961G>T			Somatic				MAP3K12_ENST00000547151.1_Intron|MAP3K12_ENST00000267079.2_Intron|MAP3K12_ENST00000547488.1_Missense_Mutation_p.P72H	p.P72H			WXS	Illumina GAIIx	Phase_I	Q12852	M3K12_HUMAN			2	419	-			46					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.215C>A	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.086968	0.36855	.	.	ENSG00000139625	ENST00000547488;ENST00000547035	T;T	0.75704	-0.96;-0.96	5.14	5.14	0.70334	.	.	.	.	.	T	0.58235	0.2108	N	0.14661	0.345	0.25012	N	0.991393	P	0.45957	0.869	B	0.39217	0.294	T	0.53906	-0.8372	9	0.41790	T	0.15	.	12.8177	0.57675	0.0:0.0:0.8363:0.1637	.	72	G3V1Y2	.	H	72	ENSP00000449038:P72H;ENSP00000448689:P72H	ENSP00000448689:P72H	P	-	2	0	MAP3K12	52167228	1.000000	0.71417	0.994000	0.49952	0.945000	0.59286	2.995000	0.49441	2.584000	0.87258	0.462000	0.41574	CCC		0.647	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		6	54	1	0	1.33987e-11	1	1.42969e-11	6	54				
IL23R	149233	broad.mit.edu	37	1	67666418	67666418	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:67666418A>T	ENST00000347310.5	+	5	662		c.e5-1		C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Splice_Site	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor						defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)		p.?(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TTTTGTTTTAAGTTTAGAGAC	0.373																																						ENST00000347310.5																			1	Unknown(1)	p.?(1)	urinary_tract(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						c.e5-1		interleukin 23 receptor							67.0	68.0	68.0					1																	67666418		2203	4300	6503	SO:0001630	splice_region_variant	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67666418A>T	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.492-1A>T	1.37:g.67666418A>T			Somatic				C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Splice_Site		NM_144701.2	NP_653302.2	WXS	Illumina GAIIx	Phase_I	Q5VWK5	IL23R_HUMAN			5	662	+								C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Splice_Site	SNP	ENST00000347310.5	37		CCDS637.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336879	0.60963	.	.	ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000441823;ENST00000416525;ENST00000540911;ENST00000371002;ENST00000543799	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8155	0.57663	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL23R	67439006	0.997000	0.39634	0.966000	0.40874	0.749000	0.42624	4.736000	0.62059	2.279000	0.76181	0.533000	0.62120	.		0.373	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701	Intron	6	124	0	0	0	1	0	6	124				
COPA	1314	broad.mit.edu	37	1	160263026	160263026	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:160263026T>A	ENST00000241704.7	-	27	2984		c.e27-2		COPA_ENST00000368069.3_Splice_Site	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha						COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACACCAGATCTAACAAGAAAC	0.418																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.e27-2		coatomer protein complex, subunit alpha							70.0	73.0	72.0					1																	160263026		2203	4300	6503	SO:0001630	splice_region_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160263026T>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.2755-2A>T	1.37:g.160263026T>A			Somatic				COPA_ENST00000368069.3_Splice_Site		NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	WXS	Illumina GAIIx	Phase_I	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		27	2984	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)							Q5T201|Q8IXZ9	Splice_Site	SNP	ENST00000241704.7	37		CCDS1202.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176514	0.78564	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5724	0.68220	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COPA	158529650	1.000000	0.71417	0.991000	0.47740	0.894000	0.52154	5.914000	0.69964	2.367000	0.80283	0.528000	0.53228	.		0.418	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371	Intron	5	185	0	0	0	1	0	5	185				
TMEM209	84928	broad.mit.edu	37	7	129841933	129841933	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr7:129841933T>A	ENST00000397622.2	-	5	454		c.e5-2		TMEM209_ENST00000336804.8_Splice_Site|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_Splice_Site|TMEM209_ENST00000473456.1_Splice_Site	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209							integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					TCTGTACAACTAGAAGGAAAA	0.388																																						ENST00000397622.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12						c.e5-2		transmembrane protein 209							53.0	52.0	52.0					7																	129841933		1898	4122	6020	SO:0001630	splice_region_variant	84928					integral to membrane		g.chr7:129841933T>A		CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.332-2A>T	7.37:g.129841933T>A			Somatic				TMEM209_ENST00000473456.1_Splice_Site|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Splice_Site|TMEM209_ENST00000462753.1_Splice_Site		NM_032842.3	NP_116231.2	WXS	Illumina GAIIx	Phase_I	Q96SK2	TM209_HUMAN			5	454	-	Melanoma(18;0.0435)							A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Splice_Site	SNP	ENST00000397622.2	37		CCDS47712.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311125	0.60414	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804;ENST00000484249;ENST00000471985	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8362	0.63410	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM209	129629169	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	7.281000	0.78621	2.204000	0.70986	0.383000	0.25322	.		0.388	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349339.1	NM_032842	Intron	4	132	0	0	0	1	0	4	132				
DERL3	91319	broad.mit.edu	37	22	24179339	24179339	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr22:24179339T>C	ENST00000318109.7	-	6	542	c.526A>G	c.(526-528)Att>Gtt	p.I176V	DERL3_ENST00000406855.3_Missense_Mutation_p.I176V|DERL3_ENST00000404056.1_Missense_Mutation_p.I149V|DERL3_ENST00000464023.1_5'Flank|DERL3_ENST00000476077.1_Missense_Mutation_p.I176V			Q96Q80	DERL3_HUMAN	derlin 3	176					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)				ovary(1)|prostate(1)|skin(1)	3						CCCACCGCAATCCCTGTGAGA	0.632																																						ENST00000404056.1																			0				ovary(1)|prostate(1)|skin(1)	3						c.(445-447)Att>Gtt		derlin 3							60.0	55.0	56.0					22																	24179339		2203	4300	6503	SO:0001583	missense	91319				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding	g.chr22:24179339T>C	AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"""chromosome 22 open reading frame 14"", ""Der1-like domain family, member 3"""	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743	ENST00000318109.7:c.526A>G	22.37:g.24179339T>C	ENSP00000315303:p.Ile176Val		Somatic				DERL3_ENST00000318109.7_Missense_Mutation_p.I176V|DERL3_ENST00000406855.3_Missense_Mutation_p.I176V|DERL3_ENST00000476077.1_Missense_Mutation_p.I176V	p.I149V			WXS	Illumina GAIIx	Phase_I	Q96Q80	DERL3_HUMAN			5	463	-			176		F -> L (in dbSNP:rs3177243).			F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	Missense_Mutation	SNP	ENST00000318109.7	37	c.445A>G	CCDS33615.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.809669	0.31961	.	.	ENSG00000099958	ENST00000406855;ENST00000404056;ENST00000318109;ENST00000476077	T;T;T;T	0.34275	2.76;1.37;2.76;2.76	4.63	3.57	0.40892	.	0.293288	0.32836	N	0.005585	T	0.35913	0.0948	L	0.59912	1.85	0.50813	D	0.999899	B;B	0.30889	0.128;0.299	B;B	0.36186	0.098;0.219	T	0.10268	-1.0637	10	0.37606	T	0.19	.	9.7818	0.40653	0.0:0.0833:0.0:0.9167	.	176;176	Q96Q80-2;Q96Q80	.;DERL3_HUMAN	V	176;149;176;176	ENSP00000384744:I176V;ENSP00000384473:I149V;ENSP00000315303:I176V;ENSP00000419399:I176V	ENSP00000315303:I176V	I	-	1	0	DERL3	22509339	1.000000	0.71417	0.759000	0.31340	0.800000	0.45204	4.887000	0.63156	0.725000	0.32318	0.456000	0.33151	ATT		0.632	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319905.1	NM_198440		3	27	0	0	0	1	0	3	27				
CCDC163P	126661	broad.mit.edu	37	1	45962262	45962262	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:45962262G>C	ENST00000432082.1	-	4	660	c.296C>G	c.(295-297)gCt>gGt	p.A99G	CCDC163P_ENST00000502793.2_5'UTR|CCDC163P_ENST00000490551.3_Missense_Mutation_p.A99G|CCDC163P_ENST00000488405.2_Missense_Mutation_p.A99G					coiled-coil domain containing 163, pseudogene											cervix(1)|endometrium(1)	2						TCGTCCCTCAGCCAGCTGTTT	0.527																																						ENST00000490551.3																			0				cervix(1)|endometrium(1)	2						c.(295-297)gCt>gGt									57.0	63.0	61.0					1																	45962262		2004	4175	6179	SO:0001583	missense	126661							g.chr1:45962262G>C	BC047421		1p34.1	2010-06-14	2009-12-17	2009-12-17	ENSG00000236624	ENSG00000236624			27003	pseudogene	pseudogene			"""chromosome 1 open reading frame 231"""	C1orf231		18672041	Standard	NR_033296		Approved	LOC126661	uc001cnw.3		OTTHUMG00000007741	ENST00000432082.1:c.296C>G	1.37:g.45962262G>C	ENSP00000435596:p.Ala99Gly		Somatic				CCDC163P_ENST00000432082.1_Missense_Mutation_p.A99G|CCDC163P_ENST00000488405.2_Missense_Mutation_p.A99G|CCDC163P_ENST00000502793.2_5'UTR	p.A99G			WXS	Illumina GAIIx	Phase_I					4	660	-									Missense_Mutation	SNP	ENST00000432082.1	37	c.296C>G		.	.	.	.	.	.	.	.	.	.	G	15.70	2.909948	0.52439	.	.	ENSG00000236624	ENST00000490551;ENST00000432082;ENST00000488405	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.30675	N	0.752961	P;P	0.49961	0.93;0.93	P;P	0.52823	0.71;0.71	T	0.60219	-0.7306	7	0.56958	D	0.05	.	14.239	0.65945	0.0:0.0:1.0:0.0	.	99;99	E9PLD6;F2Z3K3	.;.	G	99	.	ENSP00000431736:A99G	A	-	2	0	CCDC163P	45734849	1.000000	0.71417	0.604000	0.28916	0.062000	0.15995	4.082000	0.57635	2.823000	0.97156	0.637000	0.83480	GCT		0.527	CCDC163P-006	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000349850.4	NM_001102601		14	38	0	0	0	1	0	14	38				
SENP6	26054	broad.mit.edu	37	6	76380267	76380267	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr6:76380267A>T	ENST00000447266.2	+	11	1702		c.e11-1		SENP6_ENST00000370014.3_Splice_Site|SENP6_ENST00000541192.1_Splice_Site|SENP6_ENST00000327284.8_Splice_Site|SENP6_ENST00000370010.2_Splice_Site	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6						protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTTCCTTTTTAGTTTGGCAAT	0.323																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.e11-1		SUMO1/sentrin specific peptidase 6							74.0	65.0	68.0					6																	76380267		1803	4074	5877	SO:0001630	splice_region_variant	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76380267A>T		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1225-1A>T	6.37:g.76380267A>T			Somatic				SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000541192.1_Splice_Site|SENP6_ENST00000327284.8_Splice_Site|SENP6_ENST00000447266.2_Splice_Site		NM_001100409.1	NP_001093879.1	WXS	Illumina GAIIx	Phase_I	Q9GZR1	SENP6_HUMAN			11	1843	+		all_hematologic(105;0.189)						A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Splice_Site	SNP	ENST00000447266.2	37		CCDS47454.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.921043	0.73213	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8735	0.79141	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SENP6	76436987	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.414000	0.73318	2.149000	0.67028	0.533000	0.62120	.		0.323	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571	Intron	8	68	0	0	0	1	0	8	68				
LRRN3	54674	broad.mit.edu	37	7	110764578	110764578	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr7:110764578A>G	ENST00000422987.3	+	2	2581	c.1750A>G	c.(1750-1752)Aat>Gat	p.N584D	IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.N584D|LRRN3_ENST00000451085.1_Missense_Mutation_p.N584D|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	584	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TACTCATCTGAATCCATCAAC	0.363																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(1750-1752)Aat>Gat		leucine rich repeat neuronal 3							51.0	48.0	49.0					7																	110764578		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110764578A>G	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1750A>G	7.37:g.110764578A>G	ENSP00000412417:p.Asn584Asp		Somatic				IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.N584D|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.N584D	p.N584D	NM_001099660.1	NP_001093130.1	WXS	Illumina GAIIx	Phase_I	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	2796	+			584			Fibronectin type-III.		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.1750A>G	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.383380	0.25031	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.56776	0.44;0.44;0.44	6.13	4.92	0.64577	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.582024	0.17040	N	0.189353	T	0.42675	0.1213	L	0.36672	1.1	0.28953	N	0.890317	B	0.17852	0.024	B	0.24701	0.055	T	0.26430	-1.0103	10	0.13470	T	0.59	.	13.2493	0.60041	0.8678:0.1322:0.0:0.0	.	584	Q9H3W5	LRRN3_HUMAN	D	584	ENSP00000312001:N584D;ENSP00000397312:N584D;ENSP00000412417:N584D	ENSP00000312001:N584D	N	+	1	0	LRRN3	110551814	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.659000	0.61504	2.367000	0.80283	0.529000	0.55759	AAT		0.363	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		8	46	0	0	0	1	0	8	46				
PTPN13	5783	broad.mit.edu	37	4	87703387	87703387	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr4:87703387C>T	ENST00000411767.2	+	37	6059	c.5996C>T	c.(5995-5997)gCc>gTc	p.A1999V	PTPN13_ENST00000316707.6_Missense_Mutation_p.A1808V|PTPN13_ENST00000436978.1_Missense_Mutation_p.A2004V|PTPN13_ENST00000511467.1_Missense_Mutation_p.A2004V|PTPN13_ENST00000427191.2_Missense_Mutation_p.A1980V			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1999					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGCCAGCCTGCCCTCACTCCT	0.453																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6010-6012)gCc>gTc		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							155.0	149.0	151.0					4																	87703387		1939	4121	6060	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87703387C>T		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5996C>T	4.37:g.87703387C>T	ENSP00000407249:p.Ala1999Val		Somatic				PTPN13_ENST00000316707.6_Missense_Mutation_p.A1808V|PTPN13_ENST00000511467.1_Missense_Mutation_p.A2004V|PTPN13_ENST00000411767.2_Missense_Mutation_p.A1999V|PTPN13_ENST00000427191.2_Missense_Mutation_p.A1980V	p.A2004V	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	WXS	Illumina GAIIx	Phase_I	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	37	6491	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1999					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.6011C>T	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.448102	0.26074	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.53423	0.62;0.65;0.73;0.63;0.65	4.98	2.15	0.27550	.	0.816569	0.10474	N	0.670388	T	0.38585	0.1046	L	0.28115	0.83	0.09310	N	1	B;B;B;B	0.22414	0.069;0.021;0.026;0.045	B;B;B;B	0.27715	0.082;0.014;0.014;0.019	T	0.37033	-0.9723	10	0.51188	T	0.08	.	12.9582	0.58442	0.0:0.4701:0.5299:0.0	.	1808;1980;1999;2004	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	V	1980;2004;1808;1999;2004;1948	ENSP00000408368:A1980V;ENSP00000394794:A2004V;ENSP00000322675:A1808V;ENSP00000407249:A1999V;ENSP00000426626:A2004V	ENSP00000322675:A1808V	A	+	2	0	PTPN13	87922411	0.000000	0.05858	0.010000	0.14722	0.243000	0.25628	-0.165000	0.09968	0.301000	0.22738	-0.182000	0.12963	GCC		0.453	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			5	254	0	0	0	1	0	5	254				
CASP9	842	broad.mit.edu	37	1	15844782	15844782	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:15844782C>A	ENST00000333868.5	-	2	335	c.241G>T	c.(241-243)Ggc>Tgc	p.G81C	CASP9_ENST00000469637.1_5'UTR|CASP9_ENST00000546424.1_Missense_Mutation_p.G81C|CASP9_ENST00000375890.4_De_novo_Start_OutOfFrame|CASP9_ENST00000348549.5_Missense_Mutation_p.G81C	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	81	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		ATGTCCTGGCCTGTGTCCTCT	0.542																																						ENST00000375890.4																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18								caspase 9, apoptosis-related cysteine peptidase							99.0	90.0	93.0					1																	15844782		2203	4300	6503	SO:0001583	missense	842				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding	g.chr1:15844782C>A	U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 56"""	602234	"""caspase 9, apoptosis-related cysteine protease"""			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.241G>T	1.37:g.15844782C>A	ENSP00000330237:p.Gly81Cys		Somatic				CASP9_ENST00000469637.1_5'UTR|CASP9_ENST00000546424.1_Missense_Mutation_p.G81C|CASP9_ENST00000333868.5_Missense_Mutation_p.G81C|CASP9_ENST00000348549.5_Missense_Mutation_p.G81C		NM_032996.2	NP_127463.2	WXS	Illumina GAIIx	Phase_I	P55211	CASP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)	0	252	-		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)						B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Translation_Start_Site	SNP	ENST00000333868.5	37		CCDS158.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420812	0.62622	.	.	ENSG00000132906	ENST00000546424;ENST00000333868;ENST00000348549;ENST00000440484	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.5	5.5	0.81552	DEATH-like (2);Caspase Recruitment (3);	0.149853	0.64402	D	0.000011	T	0.70202	0.3197	M	0.80847	2.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.996	T	0.74163	-0.3754	10	0.87932	D	0	.	14.8796	0.70522	0.0:1.0:0.0:0.0	.	81;81;81	P55211-2;P55211;F8VVS7	.;CASP9_HUMAN;.	C	81	ENSP00000449584:G81C;ENSP00000330237:G81C;ENSP00000255256:G81C;ENSP00000411304:G81C	ENSP00000330237:G81C	G	-	1	0	CASP9	15717369	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	4.876000	0.63079	2.587000	0.87381	0.563000	0.77884	GGC		0.542	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1	NM_032996		7	182	1	0	0.307466	1	0.307466	7	182				
ACSL1	2180	broad.mit.edu	37	4	185678806	185678806	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr4:185678806G>A	ENST00000515030.1	-	20	2264	c.1939C>T	c.(1939-1941)Ctg>Ttg	p.L647L	ACSL1_ENST00000281455.2_Silent_p.L647L|ACSL1_ENST00000513317.1_Silent_p.L647L|ACSL1_ENST00000504342.1_Silent_p.L647L|ACSL1_ENST00000437665.3_Silent_p.L476L|ACSL1_ENST00000507295.1_Silent_p.L613L|ACSL1_ENST00000454703.2_Silent_p.L476L			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	647					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AATGGTTTCAGACCAGAATCC	0.348																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(1939-1941)Ctg>Ttg		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						183.0	190.0	187.0					4																	185678806		2203	4300	6503	SO:0001819	synonymous_variant	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185678806G>A	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1939C>T	4.37:g.185678806G>A			Somatic				ACSL1_ENST00000281455.2_Silent_p.L647L|ACSL1_ENST00000504342.1_Silent_p.L647L|ACSL1_ENST00000507295.1_Silent_p.L613L|ACSL1_ENST00000513317.1_Silent_p.L647L|ACSL1_ENST00000454703.2_Silent_p.L476L|ACSL1_ENST00000437665.3_Silent_p.L476L	p.L647L			WXS	Illumina GAIIx	Phase_I	P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	20	2264	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	647					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Silent	SNP	ENST00000515030.1	37	c.1939C>T	CCDS3839.1																																																																																				0.348	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		7	917	0	0	0	1	0	7	917				
LILRB1	10859	broad.mit.edu	37	19	55144106	55144106	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr19:55144106G>A	ENST00000396331.1	+	7	1210	c.853G>A	c.(853-855)Ggc>Agc	p.G285S	LILRB1_ENST00000396315.1_Missense_Mutation_p.G285S|LILRB1_ENST00000396332.4_Missense_Mutation_p.G285S|LILRB1_ENST00000427581.2_Missense_Mutation_p.G321S|LILRB1_ENST00000418536.2_Missense_Mutation_p.G285S|LILRB1_ENST00000448689.1_Missense_Mutation_p.G285S|LILRB1_ENST00000434867.2_Missense_Mutation_p.G285S|LILRB1_ENST00000396327.3_Missense_Mutation_p.G285S|LILRB1_ENST00000324602.7_Missense_Mutation_p.G285S|LILRB1_ENST00000396317.1_Missense_Mutation_p.G285S|LILRB1_ENST00000396321.2_Missense_Mutation_p.G285S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	285	Ig-like C2-type 3.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTTCACCCTGGGCCCTGTGAG	0.622										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(853-855)Ggc>Agc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							52.0	56.0	55.0					19																	55144106		2203	4298	6501	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55144106G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.853G>A	19.37:g.55144106G>A	ENSP00000379622:p.Gly285Ser	HNSCC(37;0.09)	Somatic				LILRB1_ENST00000396321.2_Missense_Mutation_p.G285S|LILRB1_ENST00000396327.3_Missense_Mutation_p.G285S|LILRB1_ENST00000396332.4_Missense_Mutation_p.G285S|LILRB1_ENST00000434867.2_Missense_Mutation_p.G285S|LILRB1_ENST00000418536.2_Missense_Mutation_p.G285S|LILRB1_ENST00000324602.7_Missense_Mutation_p.G285S|LILRB1_ENST00000396317.1_Missense_Mutation_p.G285S|LILRB1_ENST00000448689.1_Missense_Mutation_p.G285S|LILRB1_ENST00000427581.2_Missense_Mutation_p.G321S|LILRB1_ENST00000396315.1_Missense_Mutation_p.G285S	p.G285S	NM_006669.3	NP_006660.3	WXS	Illumina GAIIx	Phase_I	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	7	1210	+			285			Ig-like C2-type 3.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.853G>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	9.997	1.232463	0.22626	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82	2.02	-3.41	0.04839	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.888970	0.02670	N	0.108431	T	0.07548	0.0190	N	0.25201	0.72	0.09310	N	1	B;B;P;B;B	0.39424	0.078;0.112;0.673;0.112;0.303	B;B;B;B;B	0.41619	0.074;0.108;0.361;0.108;0.252	T	0.16364	-1.0405	10	0.41790	T	0.15	.	0.5332	0.00632	0.1838:0.2429:0.3286:0.2447	.	285;285;285;285;285	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	S	285;285;285;285;285;285;285;285;321;285;285	ENSP00000379614:G285S;ENSP00000391514:G285S;ENSP00000409968:G285S;ENSP00000379622:G285S;ENSP00000379618:G285S;ENSP00000315997:G285S;ENSP00000405243:G285S;ENSP00000379623:G285S;ENSP00000395004:G321S;ENSP00000379610:G285S;ENSP00000379608:G285S	ENSP00000315997:G285S	G	+	1	0	LILRB1	59835918	0.000000	0.05858	0.001000	0.08648	0.067000	0.16453	-0.269000	0.08596	-0.254000	0.09500	0.184000	0.17185	GGC		0.622	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			3	52	0	0	0	1	0	3	52				
MRPS5	64969	broad.mit.edu	37	2	95775710	95775710	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:95775710A>T	ENST00000272418.2	-	4	562	c.354T>A	c.(352-354)acT>acA	p.T118T		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	118					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCTTCTTTTTAGTTCTTTTGC	0.393																																						ENST00000272418.2																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(352-354)acT>acA		mitochondrial ribosomal protein S5							83.0	86.0	85.0					2																	95775710		2203	4300	6503	SO:0001819	synonymous_variant	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95775710A>T	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.354T>A	2.37:g.95775710A>T			Somatic					p.T118T	NM_031902.3	NP_114108.1	WXS	Illumina GAIIx	Phase_I	P82675	RT05_HUMAN			4	562	-			118					Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Silent	SNP	ENST00000272418.2	37	c.354T>A	CCDS2010.1																																																																																				0.393	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		8	174	0	0	0	1	0	8	174				
CYP11A1	1583	broad.mit.edu	37	15	74630355	74630355	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr15:74630355G>A	ENST00000268053.6	-	9	1678	c.1524C>T	c.(1522-1524)tcC>tcT	p.S508S	CYP11A1_ENST00000419019.2_Silent_p.S350S|CYP11A1_ENST00000358632.4_Silent_p.S350S	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	508					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	AGAAGGTGAAGGAGATGGGCT	0.557																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000358632.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1048-1050)tcC>tcT		cytochrome P450, family 11, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						157.0	132.0	141.0					15																	74630355		2198	4297	6495	SO:0001819	synonymous_variant	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74630355G>A	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.1524C>T	15.37:g.74630355G>A			Somatic				CYP11A1_ENST00000419019.2_Silent_p.S350S|CYP11A1_ENST00000268053.6_Silent_p.S508S	p.S350S	NM_001099773.1	NP_001093243.1	WXS	Illumina GAIIx	Phase_I	P05108	CP11A_HUMAN			9	1745	-			508					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Silent	SNP	ENST00000268053.6	37	c.1050C>T	CCDS32291.1																																																																																				0.557	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			4	341	0	0	0	1	0	4	341				
CSMD3	114788	broad.mit.edu	37	8	113246594	113246594	+	Splice_Site	SNP	A	A	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:113246594A>C	ENST00000297405.5	-	68	10984	c.10740T>G	c.(10738-10740)ttT>ttG	p.F3580L	CSMD3_ENST00000343508.3_Splice_Site_p.F3540L|CSMD3_ENST00000455883.2_Splice_Site_p.F3411L|CSMD3_ENST00000352409.3_Splice_Site_p.F3510L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3580						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						CTATACTTACAAAGCCATCCA	0.343										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.e68+1		CUB and Sushi multiple domains 3							116.0	115.0	116.0					8																	113246594		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113246594A>C	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.10740+1T>G	8.37:g.113246594A>C		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_ENST00000352409.3_Splice_Site_p.F3510_splice|CSMD3_ENST00000455883.2_Splice_Site_p.F3411_splice|CSMD3_ENST00000343508.3_Splice_Site_p.F3540_splice	p.F3580_splice	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			68	10984	-			3580					Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.10740_splice	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.752970	0.69648	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.27256	1.98;1.98;2.03;1.68;2.02	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000001	T	0.41696	0.1170	L	0.51422	1.61	0.58432	D	0.999995	D;D;B	0.63046	0.992;0.987;0.411	P;P;B	0.61275	0.886;0.772;0.176	T	0.12811	-1.0533	9	.	.	.	.	15.1664	0.72828	1.0:0.0:0.0:0.0	.	3411;3580;3540	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	3540;3580;2850;3411;3510	ENSP00000345799:F3540L;ENSP00000297405:F3580L;ENSP00000341558:F2850L;ENSP00000412263:F3411L;ENSP00000343124:F3510L	.	F	-	3	2	CSMD3	113315770	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	6.877000	0.75562	2.173000	0.68751	0.533000	0.62120	TTT		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	82	132	0	0	0	1	0	82	132				
BRCA2	675	broad.mit.edu	37	13	32944606	32944606	+	Missense_Mutation	SNP	C	C	G	rs80359087		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr13:32944606C>G	ENST00000380152.3	+	19	8632	c.8399C>G	c.(8398-8400)cCt>cGt	p.P2800R	BRCA2_ENST00000544455.1_Missense_Mutation_p.P2800R			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2800					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GACCCTAGACCTTTTCCTCTG	0.383			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(8398-8400)cCt>cGt	Homologous recombination	breast cancer 2, early onset							174.0	162.0	166.0					13																	32944606		2203	4300	6503	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32944606C>G	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8399C>G	13.37:g.32944606C>G	ENSP00000369497:p.Pro2800Arg	TCGA Ovarian(8;0.087)	Somatic				BRCA2_ENST00000380152.3_Missense_Mutation_p.P2800R	p.P2800R	NM_000059.3	NP_000050.2	WXS	Illumina GAIIx	Phase_I	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	19	8626	+		Lung SC(185;0.0262)	2800					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.8399C>G	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740779	0.89573	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.80909	-1.43;-1.43	5.19	5.19	0.71726	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	D	0.90995	0.7168	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92372	0.5906	10	0.87932	D	0	.	18.729	0.91728	0.0:1.0:0.0:0.0	.	2800	P51587	BRCA2_HUMAN	R	2800	ENSP00000369497:P2800R;ENSP00000439902:P2800R	ENSP00000369497:P2800R	P	+	2	0	BRCA2	31842606	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	7.767000	0.85331	2.421000	0.82119	0.555000	0.69702	CCT		0.383	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		26	294	0	0	0	1	0	26	294				
IL17RB	55540	broad.mit.edu	37	3	53898830	53898830	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:53898830T>A	ENST00000288167.3	+	11	1013	c.1004T>A	c.(1003-1005)cTt>cAt	p.L335H		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	335	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		ATTAAGGTTCTTGTGGTTTAC	0.398																																						ENST00000288167.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13						c.(1003-1005)cTt>cAt		interleukin 17 receptor B							145.0	140.0	142.0					3																	53898830		2203	4300	6503	SO:0001583	missense	55540				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr3:53898830T>A	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.1004T>A	3.37:g.53898830T>A	ENSP00000288167:p.Leu335His		Somatic					p.L335H	NM_018725.3	NP_061195.2	WXS	Illumina GAIIx	Phase_I	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	11	1013	+			335			SEFIR.		Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	ENST00000288167.3	37	c.1004T>A	CCDS2874.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174050	0.78452	.	.	ENSG00000056736	ENST00000288167;ENST00000494338	T;T	0.38722	1.12;1.12	5.84	5.84	0.93424	SEFIR (1);	0.194871	0.33217	N	0.005157	T	0.62380	0.2423	M	0.68317	2.08	0.41071	D	0.985459	D	0.89917	1.0	D	0.77557	0.99	T	0.66048	-0.6020	10	0.72032	D	0.01	-8.8097	13.7374	0.62827	0.0:0.0:0.0:1.0	.	335	Q9NRM6	I17RB_HUMAN	H	335;319	ENSP00000288167:L335H;ENSP00000418638:L319H	ENSP00000288167:L335H	L	+	2	0	IL17RB	53873870	0.998000	0.40836	0.976000	0.42696	0.964000	0.63967	5.163000	0.64948	2.230000	0.72887	0.528000	0.53228	CTT		0.398	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		105	292	0	0	0	1	0	105	292				
OR1I1	126370	broad.mit.edu	37	19	15198108	15198108	+	Missense_Mutation	SNP	G	G	A	rs146090785	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr19:15198108G>A	ENST00000209540.2	+	1	318	c.232G>A	c.(232-234)Gtc>Atc	p.V78I		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CTCCACCACCGTCCCCAAGAT	0.542													G|||	2	0.000399361	0.0015	0.0	5008	,	,		22262	0.0		0.0	False		,,,				2504	0.0					ENST00000209540.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						c.(232-234)Gtc>Atc		olfactory receptor, family 1, subfamily I, member 1		G	ILE/VAL	8,4398	14.3+/-33.2	0,8,2195	225.0	151.0	176.0		232	2.6	1.0	19	dbSNP_134	176	0,8600		0,0,4300	yes	missense	OR1I1	NM_001004713.1	29	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	benign	78/356	15198108	8,12998	2203	4300	6503	SO:0001583	missense	126370				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15198108G>A	AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"""GPCR / Class A : Olfactory receptors"""	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.232G>A	19.37:g.15198108G>A	ENSP00000209540:p.Val78Ile		Somatic					p.V78I	NM_001004713.1	NP_001004713.1	WXS	Illumina GAIIx	Phase_I	O60431	OR1I1_HUMAN			1	318	+			78					Q96R92	Missense_Mutation	SNP	ENST00000209540.2	37	c.232G>A	CCDS32937.1	.	.	.	.	.	.	.	.	.	.	g	8.568	0.879384	0.17467	0.001816	0.0	ENSG00000094661	ENST00000209540	T	0.02787	4.16	4.84	2.61	0.31194	GPCR, rhodopsin-like superfamily (1);	0.385935	0.15654	U	0.251234	T	0.02083	0.0065	L	0.28400	0.85	0.25990	N	0.982257	B	0.22800	0.075	B	0.23150	0.044	T	0.46020	-0.9221	10	0.15499	T	0.54	.	4.0416	0.09753	0.2181:0.1973:0.5846:0.0	.	78	O60431	OR1I1_HUMAN	I	78	ENSP00000209540:V78I	ENSP00000209540:V78I	V	+	1	0	OR1I1	15059108	0.000000	0.05858	0.980000	0.43619	0.659000	0.38960	-1.063000	0.03465	1.273000	0.44346	-0.258000	0.10820	GTC		0.542	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465665.1			52	109	0	0	0	1	0	52	109				
TRIM67	440730	broad.mit.edu	37	1	231298765	231298765	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:231298765C>T	ENST00000366653.5	+	1	50	c.50C>T	c.(49-51)cCt>cTt	p.P17L	TRIM67_ENST00000366652.2_Missense_Mutation_p.P17L|TRIM67_ENST00000444294.3_Missense_Mutation_p.P17L|TRIM67_ENST00000449018.3_Missense_Mutation_p.P17L			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	17					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TTTCGGGAGCCTATCATCCTG	0.672																																						ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(49-51)cCt>cTt		tripartite motif containing 67							37.0	41.0	39.0					1																	231298765		2075	4217	6292	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231298765C>T	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.50C>T	1.37:g.231298765C>T	ENSP00000355613:p.Pro17Leu		Somatic				TRIM67_ENST00000449018.3_Missense_Mutation_p.P17L|TRIM67_ENST00000366653.5_Missense_Mutation_p.P17L|TRIM67_ENST00000366652.2_Missense_Mutation_p.P17L	p.P17L	NM_001004342.3	NP_001004342.3	WXS	Illumina GAIIx	Phase_I	Q6ZTA4	TRI67_HUMAN			1	908	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	17					Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.50C>T	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935581	0.92458	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.05	5.05	0.67936	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, C3HC4 RING-type (1);	0.063957	0.64402	D	0.000006	D	0.94909	0.8354	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95878	0.8896	10	0.87932	D	0	.	17.5247	0.87796	0.0:1.0:0.0:0.0	.	17	Q6ZTA4	TRI67_HUMAN	L	17	ENSP00000412124:P17L;ENSP00000355612:P17L;ENSP00000400163:P17L;ENSP00000355613:P17L	ENSP00000355612:P17L	P	+	2	0	TRIM67	229365388	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.217000	0.77982	2.499000	0.84300	0.462000	0.41574	CCT		0.672	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		5	14	0	0	0	1	0	5	14				
EPS8	2059	broad.mit.edu	37	12	15822749	15822749	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr12:15822749G>A	ENST00000281172.5	-	5	651	c.215C>T	c.(214-216)aCc>aTc	p.T72I	EPS8_ENST00000543612.1_Missense_Mutation_p.T72I|RNU6-251P_ENST00000363235.1_RNA|EPS8_ENST00000543523.1_Missense_Mutation_p.T72I	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	72	PH; first part.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CAGGACAAAGGTAGTCAAGTG	0.348																																						ENST00000281172.5																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(214-216)aCc>aTc		epidermal growth factor receptor pathway substrate 8							83.0	69.0	74.0					12																	15822749		2203	4300	6503	SO:0001583	missense	2059				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15822749G>A	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.215C>T	12.37:g.15822749G>A	ENSP00000281172:p.Thr72Ile		Somatic				EPS8_ENST00000543523.1_Missense_Mutation_p.T72I|EPS8_ENST00000543612.1_Missense_Mutation_p.T72I	p.T72I	NM_004447.5	NP_004438.3	WXS	Illumina GAIIx	Phase_I	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	5	651	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	72			PH; first part.		A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	c.215C>T	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564205	0.65651	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000543223;ENST00000546311;ENST00000535752	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	4.84	4.84	0.62591	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	M	0.86864	2.845	0.80722	D	1	D	0.54397	0.966	D	0.64687	0.928	T	0.76206	-0.3044	10	0.87932	D	0	-16.115	18.3073	0.90187	0.0:0.0:1.0:0.0	.	72	Q12929	EPS8_HUMAN	I	72	ENSP00000441867:T72I;ENSP00000281172:T72I;ENSP00000442388:T72I;ENSP00000445235:T72I;ENSP00000440591:T72I	ENSP00000281172:T72I	T	-	2	0	EPS8	15714016	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	9.807000	0.99171	2.383000	0.81215	0.650000	0.86243	ACC		0.348	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			14	57	0	0	0	1	0	14	57				
PHF2	5253	broad.mit.edu	37	9	96415638	96415638	+	Silent	SNP	C	C	T	rs539206245	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr9:96415638C>T	ENST00000359246.4	+	6	1147	c.780C>T	c.(778-780)caC>caT	p.H260H	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	260	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCTGGTACCACGTGCTCAAGG	0.602													C|||	2	0.000399361	0.0	0.0	5008	,	,		19530	0.0		0.0	False		,,,				2504	0.002					ENST00000359246.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(778-780)caC>caT		PHD finger protein 2							98.0	79.0	85.0					9																	96415638		2203	4300	6503	SO:0001819	synonymous_variant	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96415638C>T	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.780C>T	9.37:g.96415638C>T			Somatic				PHF2_ENST00000375376.4_Intron	p.H260H	NM_005392.3	NP_005383.3	WXS	Illumina GAIIx	Phase_I	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	6	1147	+		Myeloproliferative disorder(762;0.0255)	260			JmjC.		Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	37	c.780C>T	CCDS35069.1																																																																																				0.602	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		17	54	0	0	0	1	0	17	54				
RCC1	1104	broad.mit.edu	37	1	28858360	28858360	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:28858360T>A	ENST00000373833.6	+	6	404	c.119T>A	c.(118-120)cTa>cAa	p.L40Q	RCC1_ENST00000373831.3_Missense_Mutation_p.L71Q|RCC1_ENST00000398958.2_Missense_Mutation_p.L40Q|RCC1_ENST00000373832.1_Missense_Mutation_p.L40Q			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	40					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GTGCTGACACTAGGCCAGGGC	0.592																																						ENST00000373833.6																			0				breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14						c.(118-120)cTa>cAa		regulator of chromosome condensation 1							56.0	57.0	57.0					1																	28858360		2203	4300	6503	SO:0001583	missense	1104				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	g.chr1:28858360T>A	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.119T>A	1.37:g.28858360T>A	ENSP00000362939:p.Leu40Gln		Somatic				RCC1_ENST00000398958.2_Missense_Mutation_p.L40Q|RCC1_ENST00000373831.3_Missense_Mutation_p.L71Q|RCC1_ENST00000373832.1_Missense_Mutation_p.L40Q	p.L40Q			WXS	Illumina GAIIx	Phase_I	P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	6	404	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	40					Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	c.119T>A	CCDS323.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683774	0.88639	.	.	ENSG00000180198	ENST00000398958;ENST00000427469;ENST00000434290;ENST00000373833;ENST00000419074;ENST00000373832;ENST00000373831;ENST00000411533;ENST00000430407	D;D;D;D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	5.86	5.86	0.93980	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.92648	0.7664	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.984;0.997;0.973	D	0.93410	0.6768	10	0.66056	D	0.02	-10.2256	15.1337	0.72545	0.0:0.0:0.0:1.0	.	71;57;40	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	Q	40;40;48;40;40;40;71;57;40	ENSP00000381931:L40Q;ENSP00000402740:L40Q;ENSP00000405258:L48Q;ENSP00000362939:L40Q;ENSP00000402260:L40Q;ENSP00000362938:L40Q;ENSP00000362937:L71Q;ENSP00000413644:L57Q;ENSP00000394650:L40Q	ENSP00000362937:L71Q	L	+	2	0	RCC1	28730947	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.019000	0.88732	2.246000	0.74042	0.529000	0.55759	CTA		0.592	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269		6	33	0	0	0	1	0	6	33				
TEP1	7011	broad.mit.edu	37	14	20837555	20837555	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr14:20837555G>T	ENST00000262715.5	-	53	7644	c.7604C>A	c.(7603-7605)gCc>gAc	p.A2535D	TEP1_ENST00000556935.1_Missense_Mutation_p.A2427D	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2535					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ATCCATGCTGGCATCACTATC	0.507																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(7603-7605)gCc>gAc		telomerase-associated protein 1							201.0	174.0	183.0					14																	20837555		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20837555G>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.7604C>A	14.37:g.20837555G>T	ENSP00000262715:p.Ala2535Asp		Somatic				TEP1_ENST00000556935.1_Missense_Mutation_p.A2427D	p.A2535D	NM_007110.4	NP_009041.2	WXS	Illumina GAIIx	Phase_I	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	53	7644	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2535					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.7604C>A	CCDS9548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.018|0.018	-1.475709|-1.475709	0.01035|0.01035	.|.	.|.	ENSG00000129566|ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935|ENST00000553984	T;T|.	0.49139|.	0.83;0.79|.	0.0465|0.0465	0.0465|0.0465	0.14256|0.14256	.|.	0.277804|.	0.13023|.	U|.	0.419909|.	T|.	0.15869|.	0.0382|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P;B;B|.	0.51449|.	0.945;0.0;0.0|.	P;B;B|.	0.57425|.	0.82;0.0;0.0|.	T|.	0.29119|.	-1.0022|.	9|.	0.19147|.	T|.	0.46|.	.|.	.|.	.|.	.|.	.|.	2427;1878;2535|.	G3V5X7;G3V2A4;Q99973|.	.;.;TEP1_HUMAN|.	D|X	2535;2527;2427|191	ENSP00000262715:A2535D;ENSP00000452574:A2427D|.	ENSP00000262715:A2535D|.	A|C	-|-	2|3	0|2	TEP1|TEP1	19907395|19907395	0.012000|0.012000	0.17670|0.17670	0.011000|0.011000	0.14972|0.14972	0.012000|0.012000	0.07955|0.07955	0.170000|0.170000	0.16663|0.16663	0.132000|0.132000	0.18615|0.18615	0.134000|0.134000	0.15878|0.15878	GCC|TGC		0.507	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		4	225	1	0	0.000602214	1	0.000618403	4	225				
PTPRZ1	5803	broad.mit.edu	37	7	121668608	121668608	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr7:121668608A>T	ENST00000393386.2	+	14	5402	c.4991A>T	c.(4990-4992)aAa>aTa	p.K1664I	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.K804I	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1664					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATTTCCAGGAAATGCTTCCAG	0.353																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(4990-4992)aAa>aTa		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							142.0	124.0	130.0					7																	121668608		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121668608A>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4991A>T	7.37:g.121668608A>T	ENSP00000377047:p.Lys1664Ile		Somatic				PTPRZ1_ENST00000449182.1_Missense_Mutation_p.K804I	p.K1664I	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	WXS	Illumina GAIIx	Phase_I	P23471	PTPRZ_HUMAN			14	5402	+			1664					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.4991A>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.560131	0.65538	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.78246	0.65;-1.16	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	D	0.84009	0.5378	L	0.43152	1.355	0.58432	D	0.999992	D;P;D	0.89917	1.0;0.864;0.992	D;P;P	0.71656	0.974;0.598;0.855	D	0.85668	0.1293	10	0.87932	D	0	.	16.1547	0.81649	1.0:0.0:0.0:0.0	.	803;804;1664	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	I	1664;804	ENSP00000377047:K1664I;ENSP00000410000:K804I	ENSP00000377047:K1664I	K	+	2	0	PTPRZ1	121455844	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	4.199000	0.58426	2.221000	0.72209	0.528000	0.53228	AAA		0.353	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		44	147	0	0	0	1	0	44	147				
MYO1D	4642	broad.mit.edu	37	17	30986144	30986144	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr17:30986144C>T	ENST00000318217.5	-	17	2638	c.2334G>A	c.(2332-2334)acG>acA	p.T778T	RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Silent_p.T778T|MYO1D_ENST00000394649.4_Silent_p.T690T	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	778					early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TATTGAAAATCGTCTGCAGGG	0.498											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2332-2334)acG>acA		myosin ID							98.0	84.0	89.0					17																	30986144		2203	4300	6503	SO:0001819	synonymous_variant	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:30986144C>T	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2334G>A	17.37:g.30986144C>T			Somatic	OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821	MYO1D_ENST00000579584.1_Silent_p.T778T|MYO1D_ENST00000394649.4_Silent_p.T690T|RP11-220C2.1_ENST00000582272.1_RNA	p.T778T	NM_015194.1	NP_056009.1	WXS	Illumina GAIIx	Phase_I	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		17	2638	-			778					A6H8V3|Q8NHP9	Silent	SNP	ENST00000318217.5	37	c.2334G>A	CCDS32615.1																																																																																				0.498	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			44	218	0	0	0	1	0	44	218				
GPR137C	283554	broad.mit.edu	37	14	53101774	53101774	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr14:53101774A>T	ENST00000321662.6	+	7	1231	c.1231A>T	c.(1231-1233)Act>Tct	p.T411S		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	411						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					TTTGCTCTTTACTTGTAGTAA	0.418																																						ENST00000321662.6																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8						c.(1231-1233)Act>Tct		G protein-coupled receptor 137C							126.0	125.0	125.0					14																	53101774		1953	4145	6098	SO:0001583	missense	283554					integral to membrane		g.chr14:53101774A>T	BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.1231A>T	14.37:g.53101774A>T	ENSP00000315106:p.Thr411Ser		Somatic					p.T411S	NM_001099652.1	NP_001093122.1	WXS	Illumina GAIIx	Phase_I	Q8N3F9	G137C_HUMAN			7	1231	+	Breast(41;0.0716)		411					Q86SM2	Missense_Mutation	SNP	ENST00000321662.6	37	c.1231A>T	CCDS45106.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.139|8.139	0.784899|0.784899	0.16189|0.16189	.|.	.|.	ENSG00000180998|ENSG00000180998	ENST00000321662|ENST00000542169	T|.	0.40476|.	1.03|.	5.82|5.82	3.33|3.33	0.38152|0.38152	.|.	0.207947|.	0.50627|.	D|.	0.000103|.	T|T	0.19087|0.19087	0.0458|0.0458	N|N	0.02539|0.02539	-0.55|-0.55	0.40691|0.40691	D|D	0.982395|0.982395	B;B|.	0.20052|.	0.017;0.041|.	B;B|.	0.18561|.	0.015;0.022|.	T|T	0.09997|0.09997	-1.0649|-1.0649	10|5	0.09590|.	T|.	0.72|.	-13.4472|-13.4472	4.0477|4.0477	0.09781|0.09781	0.6904:0.0:0.1258:0.1837|0.6904:0.0:0.1258:0.1837	.|.	411;240|.	Q8N3F9;B3KW22|.	G137C_HUMAN;.|.	S|F	411|380	ENSP00000315106:T411S|.	ENSP00000315106:T411S|.	T|Y	+|+	1|2	0|0	GPR137C|GPR137C	52171524|52171524	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	2.176000|2.176000	0.42500|0.42500	2.218000|2.218000	0.71995|0.71995	0.482000|0.482000	0.46254|0.46254	ACT|TAC		0.418	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411685.1	XM_290615		5	123	0	0	0	1	0	5	123				
STRN4	29888	broad.mit.edu	37	19	47234001	47234001	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr19:47234001C>A	ENST00000263280.6	-	6	916	c.867G>T	c.(865-867)aaG>aaT	p.K289N	CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000594357.2_5'Flank|STRN4_ENST00000539396.1_Missense_Mutation_p.K170N|STRN4_ENST00000391910.3_Missense_Mutation_p.K289N	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	289						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TCACACGCTGCTTCTTGTGCT	0.637																																						ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(865-867)aaG>aaT		striatin, calmodulin binding protein 4							267.0	164.0	199.0					19																	47234001		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47234001C>A	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.867G>T	19.37:g.47234001C>A	ENSP00000263280:p.Lys289Asn		Somatic				CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Missense_Mutation_p.K170N|STRN4_ENST00000263280.6_Missense_Mutation_p.K289N	p.K289N			WXS	Illumina GAIIx	Phase_I	Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	6	1317	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	289					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.867G>T	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318204	0.81469	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396;ENST00000435164	T;T;T	0.67345	-0.25;-0.26;-0.13	5.0	2.9	0.33743	.	0.000000	0.64402	D	0.000001	T	0.74344	0.3704	M	0.62723	1.935	0.45930	D	0.998767	B;D	0.71674	0.087;0.998	B;D	0.76071	0.091;0.987	T	0.69665	-0.5084	10	0.27082	T	0.32	-29.8727	8.4177	0.32681	0.0:0.8186:0.0:0.1814	.	289;289	F8VYA6;Q9NRL3	.;STRN4_HUMAN	N	289;289;170;170	ENSP00000375777:K289N;ENSP00000263280:K289N;ENSP00000440901:K170N	ENSP00000263280:K289N	K	-	3	2	STRN4	51925841	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.952000	0.40343	0.704000	0.31869	0.561000	0.74099	AAG		0.637	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			5	354	1	0	0.014758	1	0.0150737	5	354				
IGKV2-24	28923	broad.mit.edu	37	2	89475811	89475811	+	RNA	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:89475811G>A	ENST00000484817.1	-	0	390									immunoglobulin kappa variable 2-24																		ACCACTGTGTGAGGAAATTGT	0.507																																						ENST00000484817.1																			0																				98.0	103.0	101.0					2																	89475811		1889	4111	6000			28923							g.chr2:89475811G>A	X12684		2p11.2	2012-02-08			ENSG00000241294	ENSG00000241294		"""Immunoglobulins / IGK locus"""	5781	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151655		2.37:g.89475811G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	390	-									RNA	SNP	ENST00000484817.1	37																																																																																						0.507	IGKV2-24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323404.1	NG_000834		26	192	0	0	0	1	0	26	192				
GABPB2	126626	broad.mit.edu	37	1	151089911	151089911	+	Silent	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:151089911T>A	ENST00000368918.3	+	8	1297	c.966T>A	c.(964-966)atT>atA	p.I322I	GABPB2_ENST00000368916.1_Silent_p.I284I|GABPB2_ENST00000467551.1_Intron|GABPB2_ENST00000368917.1_Silent_p.I284I	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	322					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AGACTGTAATTAAAGAGGAAG	0.398																																						ENST00000368918.3																			0				breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15						c.(964-966)atT>atA		GA binding protein transcription factor, beta subunit 2							122.0	114.0	117.0					1																	151089911		2203	4300	6503	SO:0001819	synonymous_variant	126626				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding	g.chr1:151089911T>A		CCDS983.1	1q21.2	2013-01-10			ENSG00000143458	ENSG00000143458		"""Ankyrin repeat domain containing"""	28441	protein-coding gene	gene with protein product						7958862	Standard	NM_144618		Approved	MGC29891	uc001ewr.2	Q8TAK5	OTTHUMG00000012193	ENST00000368918.3:c.966T>A	1.37:g.151089911T>A			Somatic				GABPB2_ENST00000368917.1_Silent_p.I284I|GABPB2_ENST00000467551.1_Intron|GABPB2_ENST00000368916.1_Silent_p.I284I	p.I322I	NM_144618.2	NP_653219.1	WXS	Illumina GAIIx	Phase_I	Q8TAK5	GABP2_HUMAN		all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)	8	1297	+			322					B1AVJ8|D3DV14|Q8NAR5	Silent	SNP	ENST00000368918.3	37	c.966T>A	CCDS983.1																																																																																				0.398	GABPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033700.2	NM_144618		4	97	0	0	0	1	0	4	97				
OR5H2	79310	broad.mit.edu	37	3	98001737	98001737	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:98001737G>A	ENST00000355273.2	+	1	6	c.6G>A	c.(4-6)tcG>tcA	p.S2S	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CAGGGATGTCGAATGAGGACA	0.398																																						ENST00000355273.2																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(4-6)tcG>tcA		olfactory receptor, family 5, subfamily H, member 2							149.0	142.0	144.0					3																	98001737		2203	4300	6503	SO:0001819	synonymous_variant	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98001737G>A		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.6G>A	3.37:g.98001737G>A			Somatic				RP11-325B23.2_ENST00000508616.1_lincRNA	p.S2S	NM_001005482.1	NP_001005482.1	WXS	Illumina GAIIx	Phase_I	Q8NGV7	OR5H2_HUMAN			1	6	+			2					Q6IF87	Silent	SNP	ENST00000355273.2	37	c.6G>A	CCDS33801.1																																																																																				0.398	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			47	218	0	0	0	1	0	47	218				
NYNRIN	57523	broad.mit.edu	37	14	24878537	24878537	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr14:24878537G>A	ENST00000382554.3	+	4	1855	c.1537G>A	c.(1537-1539)Gct>Act	p.A513T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	513					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGAGGGACCCGCTCCAGTGCT	0.572																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(1537-1539)Gct>Act		NYN domain and retroviral integrase containing							39.0	42.0	41.0					14																	24878537		1934	4128	6062	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24878537G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.1537G>A	14.37:g.24878537G>A	ENSP00000371994:p.Ala513Thr		Somatic					p.A513T	NM_025081.2	NP_079357.2	WXS	Illumina GAIIx	Phase_I	Q9P2P1	NYNRI_HUMAN			4	1855	+			513					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.1537G>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	g	7.747	0.702554	0.15172	.	.	ENSG00000205978	ENST00000382554	T	0.09817	2.94	4.63	-3.59	0.04583	.	.	.	.	.	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.44314	-0.9336	9	0.07990	T	0.79	.	2.4094	0.04420	0.2503:0.0823:0.4134:0.2539	.	513	Q9P2P1	NYNRI_HUMAN	T	513	ENSP00000371994:A513T	ENSP00000371994:A513T	A	+	1	0	NYNRIN	23948377	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.413000	0.07123	-0.640000	0.05495	-2.194000	0.00310	GCT		0.572	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			15	82	0	0	0	1	0	15	82				
LRIT1	26103	broad.mit.edu	37	10	85991773	85991773	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr10:85991773C>T	ENST00000372105.3	-	4	1803	c.1782G>A	c.(1780-1782)gaG>gaA	p.E594E		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	594						integral component of endoplasmic reticulum membrane (GO:0030176)		p.E594D(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCCTGTCAGCCTCGCTGACAC	0.562																																						ENST00000372105.3																			1	Substitution - Missense(1)	p.E594D(1)	lung(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						c.(1780-1782)gaG>gaA		leucine-rich repeat, immunoglobulin-like and transmembrane domains 1							84.0	67.0	73.0					10																	85991773		2203	4300	6503	SO:0001819	synonymous_variant	26103					integral to endoplasmic reticulum membrane		g.chr10:85991773C>T	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1782G>A	10.37:g.85991773C>T			Somatic					p.E594E	NM_015613.2	NP_056428.1	WXS	Illumina GAIIx	Phase_I	Q9P2V4	LRIT1_HUMAN			4	1803	-			594					Q0QD41|Q9Y4N7	Silent	SNP	ENST00000372105.3	37	c.1782G>A	CCDS7373.1																																																																																				0.562	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		6	43	0	0	0	1	0	6	43				
USH2A	7399	broad.mit.edu	37	1	215955404	215955404	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:215955404C>G	ENST00000307340.3	-	54	11106	c.10720G>C	c.(10720-10722)Ggc>Cgc	p.G3574R	USH2A_ENST00000366943.2_Missense_Mutation_p.G3574R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3574	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGGCACAGCCAGCAACCGTG	0.438										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(10720-10722)Ggc>Cgc		Usher syndrome 2A (autosomal recessive, mild)							96.0	96.0	96.0					1																	215955404		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215955404C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10720G>C	1.37:g.215955404C>G	ENSP00000305941:p.Gly3574Arg	HNSCC(13;0.011)	Somatic				USH2A_ENST00000307340.3_Missense_Mutation_p.G3574R	p.G3574R			WXS	Illumina GAIIx	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	54	11106	-			3574			Fibronectin type-III 20.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10720G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780264	0.70222	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53423	0.62;0.62	5.66	4.62	0.57501	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.148471	0.30820	N	0.008813	T	0.55609	0.1931	M	0.91510	3.215	0.54753	D	0.999983	P	0.42161	0.772	B	0.36922	0.236	T	0.66858	-0.5817	10	0.87932	D	0	.	12.57	0.56331	0.0:0.9026:0.0:0.0974	.	3574	O75445	USH2A_HUMAN	R	3574	ENSP00000305941:G3574R;ENSP00000355910:G3574R	ENSP00000305941:G3574R	G	-	1	0	USH2A	214022027	0.998000	0.40836	0.699000	0.30290	0.619000	0.37552	3.847000	0.55895	1.275000	0.44379	0.650000	0.86243	GGC		0.438	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		36	166	0	0	0	1	0	36	166				
FBXO7	25793	broad.mit.edu	37	22	32879882	32879882	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr22:32879882A>T	ENST00000266087.7	+	3	744		c.e3-1		FBXO7_ENST00000382058.3_Splice_Site|FBXO7_ENST00000397426.1_Splice_Site	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7						cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCTTTTTCAGTTAGGGCCT	0.353																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e3-1		F-box protein 7							64.0	65.0	64.0					22																	32879882		2203	4300	6503	SO:0001630	splice_region_variant	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32879882A>T	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.418-1A>T	22.37:g.32879882A>T			Somatic				FBXO7_ENST00000382058.3_Splice_Site|FBXO7_ENST00000397426.1_Splice_Site		NM_012179.3	NP_036311.3	WXS	Illumina GAIIx	Phase_I	Q9Y3I1	FBX7_HUMAN			3	744	+								B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Splice_Site	SNP	ENST00000266087.7	37		CCDS13907.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.854895	0.71719	.	.	ENSG00000100225	ENST00000266087;ENST00000452138;ENST00000382058;ENST00000397426;ENST00000444207	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5387	0.67979	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBXO7	31209882	1.000000	0.71417	0.940000	0.37924	0.950000	0.60333	6.046000	0.71029	2.174000	0.68829	0.528000	0.53228	.		0.353	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1		Intron	5	89	0	0	0	1	0	5	89				
ASB10	136371	broad.mit.edu	37	7	150873237	150873237	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr7:150873237G>A	ENST00000420175.2	-	5	1390	c.1366C>T	c.(1366-1368)Cgc>Tgc	p.R456C	GBX1_ENST00000475831.1_5'Flank|ASB10_ENST00000377867.3_Missense_Mutation_p.R441C|ASB10_ENST00000275838.1_Missense_Mutation_p.R418C|ASB10_ENST00000434669.1_Missense_Mutation_p.R463C|ASB10_ENST00000422024.1_Missense_Mutation_p.R501C			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	456	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCAGGTAGCGGAGCAGGCGC	0.667																																						ENST00000422024.1																			0				NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(1501-1503)Cgc>Tgc		ankyrin repeat and SOCS box containing 10							24.0	26.0	26.0					7																	150873237		2198	4291	6489	SO:0001583	missense	136371				intracellular signal transduction			g.chr7:150873237G>A	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.1366C>T	7.37:g.150873237G>A	ENSP00000391137:p.Arg456Cys		Somatic				ASB10_ENST00000377867.3_Missense_Mutation_p.R441C|ASB10_ENST00000434669.1_Missense_Mutation_p.R463C|ASB10_ENST00000275838.1_Missense_Mutation_p.R418C|ASB10_ENST00000420175.2_Missense_Mutation_p.R456C	p.R501C	NM_001142459.1	NP_001135931.2	WXS	Illumina GAIIx	Phase_I	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	1626	-			456					A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.1501C>T	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797970	0.70567	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	4.73	3.81	0.43845	SOCS protein, C-terminal (3);	0.176792	0.50627	D	0.000110	T	0.67906	0.2943	M	0.80982	2.52	0.48185	D	0.999601	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.972;0.986;0.98	T	0.73113	-0.4085	10	0.72032	D	0.01	-11.9059	12.7469	0.57285	0.0:0.3111:0.6889:0.0	.	441;456;463	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	C	418;441;501;463;456	ENSP00000275838:R418C;ENSP00000367098:R441C;ENSP00000401369:R501C;ENSP00000398247:R463C;ENSP00000391137:R456C	ENSP00000275838:R418C	R	-	1	0	ASB10	150504170	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	2.684000	0.46951	2.176000	0.68965	0.655000	0.94253	CGC		0.667	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		7	25	0	0	0	1	0	7	25				
GFM1	85476	broad.mit.edu	37	3	158376782	158376782	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:158376782T>A	ENST00000486715.1	+	9	1512	c.1155T>A	c.(1153-1155)taT>taA	p.Y385*	GFM1_ENST00000478576.1_Nonsense_Mutation_p.Y385*|GFM1_ENST00000264263.5_Nonsense_Mutation_p.Y404*	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			ACACCATCTATAACACAAGGA	0.453																																						ENST00000486715.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22						c.(1153-1155)taT>taA		G elongation factor, mitochondrial 1							133.0	122.0	126.0					3																	158376782		2203	4300	6503	SO:0001587	stop_gained	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158376782T>A	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.1155T>A	3.37:g.158376782T>A	ENSP00000419038:p.Tyr385*		Somatic				GFM1_ENST00000264263.5_Nonsense_Mutation_p.Y404*|GFM1_ENST00000478576.1_Nonsense_Mutation_p.Y385*	p.Y385*	NM_024996.5	NP_079272.4	WXS	Illumina GAIIx	Phase_I	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		9	1512	+			385						Nonsense_Mutation	SNP	ENST00000486715.1	37	c.1155T>A	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	T	31	5.098747	0.94197	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	.	.	.	5.81	-9.29	0.00653	.	0.330369	0.33553	N	0.004787	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5045	15.5209	0.75866	0.0:0.6346:0.0726:0.2928	.	.	.	.	X	385;385;404	.	ENSP00000264263:Y404X	Y	+	3	2	GFM1	159859476	0.069000	0.21087	0.319000	0.25293	0.815000	0.46073	-0.679000	0.05203	-2.009000	0.00954	-0.274000	0.10170	TAT		0.453	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		5	137	0	0	0	1	0	5	137				
USP30	84749	broad.mit.edu	37	12	109494485	109494485	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr12:109494485A>T	ENST00000257548.5	+	2	176		c.e2-1		USP30-AS1_ENST00000478808.2_RNA|USP30_ENST00000392784.2_Splice_Site	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30						mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						TTTCTTTTTTAGATATAAAGT	0.348																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.e2-1		ubiquitin specific peptidase 30							136.0	153.0	147.0					12																	109494485		2203	4300	6503	SO:0001630	splice_region_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109494485A>T	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.84-1A>T	12.37:g.109494485A>T			Somatic				USP30_ENST00000392784.2_Splice_Site		NM_032663.3	NP_116052.2	WXS	Illumina GAIIx	Phase_I	Q70CQ3	UBP30_HUMAN			2	176	+								Q8WTU7|Q96JX4|Q9BSS3	Splice_Site	SNP	ENST00000257548.5	37		CCDS9123.2	.	.	.	.	.	.	.	.	.	.	A	22.7	4.326043	0.81580	.	.	ENSG00000135093	ENST00000257548;ENST00000536393;ENST00000539121	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4941	0.67674	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP30	107978868	1.000000	0.71417	0.949000	0.38748	0.977000	0.68977	8.276000	0.89894	2.304000	0.77564	0.528000	0.53228	.		0.348	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663	Intron	5	211	0	0	0	1	0	5	211				
C16orf62	57020	broad.mit.edu	37	16	19603110	19603110	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr16:19603110A>T	ENST00000251143.5	+	8	651		c.e8-1		C16orf62_ENST00000417362.2_Splice_Site|C16orf62_ENST00000538853.1_Splice_Site|C16orf62_ENST00000448695.1_Intron|C16orf62_ENST00000543152.1_Intron|C16orf62_ENST00000542263.1_Splice_Site|C16orf62_ENST00000438132.3_Splice_Site			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62							integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CTCTTTTTTTAGTGTTCAAAG	0.358																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.e8-1		chromosome 16 open reading frame 62							98.0	95.0	96.0					16																	19603110		2196	4300	6496	SO:0001630	splice_region_variant	57020					integral to membrane		g.chr16:19603110A>T		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.640-1A>T	16.37:g.19603110A>T			Somatic				C16orf62_ENST00000417362.2_Splice_Site|C16orf62_ENST00000448695.1_Intron|C16orf62_ENST00000251143.5_Splice_Site|C16orf62_ENST00000543152.1_Intron|C16orf62_ENST00000542263.1_Splice_Site|C16orf62_ENST00000538853.1_Splice_Site		NM_020314.5	NP_064710.4	WXS	Illumina GAIIx	Phase_I	Q7Z3J2	CP062_HUMAN			8	954	+								A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Splice_Site	SNP	ENST00000251143.5	37			.	.	.	.	.	.	.	.	.	.	A	20.2	3.949372	0.73787	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0998	0.65046	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C16orf62	19510611	1.000000	0.71417	0.988000	0.46212	0.976000	0.68499	7.615000	0.83006	2.145000	0.66743	0.533000	0.62120	.		0.358	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314	Intron	4	140	0	0	0	1	0	4	140				
SEC24D	9871	broad.mit.edu	37	4	119686074	119686074	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr4:119686074T>A	ENST00000280551.6	-	10	1419		c.e10-2		SEC24D_ENST00000379735.5_Splice_Site|SEC24D_ENST00000419654.2_Splice_Site|SEC24D_ENST00000511481.1_Splice_Site|SEC24D_ENST00000505134.1_Splice_Site			O94855	SC24D_HUMAN	SEC24 family member D						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ATGGTGGAACTAATAAAAACA	0.323																																						ENST00000379735.5																			0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.e10-2		SEC24 family member D							78.0	80.0	79.0					4																	119686074		2203	4300	6503	SO:0001630	splice_region_variant	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119686074T>A	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.1181-2A>T	4.37:g.119686074T>A			Somatic				SEC24D_ENST00000419654.2_Splice_Site|SEC24D_ENST00000280551.6_Splice_Site|SEC24D_ENST00000511481.1_Splice_Site|SEC24D_ENST00000505134.1_Splice_Site		NM_014822.2	NP_055637.2	WXS	Illumina GAIIx	Phase_I	O94855	SC24D_HUMAN			10	1455	-								Q8IYI7	Splice_Site	SNP	ENST00000280551.6	37		CCDS3710.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274498	0.80580	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000511481	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0154	0.80434	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEC24D	119905522	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.941000	0.87700	2.244000	0.73946	0.477000	0.44152	.		0.323	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4		Intron	4	113	0	0	0	1	0	4	113				
PRDM9	56979	broad.mit.edu	37	5	23527693	23527693	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr5:23527693T>C	ENST00000296682.3	+	11	2678	c.2496T>C	c.(2494-2496)taT>taC	p.Y832Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	832					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.Y832Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGCCCTATGTCTGCAGGG	0.587										HNSCC(3;0.000094)																												ENST00000296682.3																			1	Substitution - coding silent(1)	p.Y832Y(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2494-2496)taT>taC		PR domain containing 9							48.0	60.0	56.0					5																	23527693		2166	4285	6451	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527693T>C	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2496T>C	5.37:g.23527693T>C		HNSCC(3;0.000094)	Somatic					p.Y832Y	NM_020227.2	NP_064612.2	WXS	Illumina GAIIx	Phase_I	Q9NQV7	PRDM9_HUMAN			11	2678	+			832					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.2496T>C	CCDS43307.1																																																																																				0.587	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		5	355	0	0	0	1	0	5	355				
UBE2W	55284	broad.mit.edu	37	8	74742650	74742650	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:74742650A>G	ENST00000602593.1	-	2	125	c.73T>C	c.(73-75)Tta>Cta	p.L25L	RP11-463D19.2_ENST00000358757.5_Silent_p.L25L|UBE2W_ENST00000517608.1_Silent_p.L54L|UBE2W_ENST00000602969.1_Silent_p.L36L|UBE2W_ENST00000419880.3_Silent_p.L65L|UBE2W_ENST00000453587.2_Silent_p.L25L			Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	25					cellular response to misfolded protein (GO:0071218)|DNA repair (GO:0006281)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein monoubiquitination (GO:0006513)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			TTCTCATTTAAGGTCATTCCA	0.328																																					Pancreas(14;490 592 20090 21022 23311)	ENST00000517608.1																			0				kidney(1)|lung(1)	2						c.(160-162)Tta>Cta		ubiquitin-conjugating enzyme E2W (putative)							132.0	126.0	128.0					8																	74742650		1819	4075	5894	SO:0001819	synonymous_variant	55284				protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr8:74742650A>G	AK001873	CCDS47874.1, CCDS47875.1, CCDS47874.2, CCDS47875.2	8q21.11	2010-07-07			ENSG00000104343	ENSG00000104343		"""Ubiquitin-conjugating enzymes E2"""	25616	protein-coding gene	gene with protein product		614277				12477932	Standard	NM_001001481		Approved	FLJ11011	uc003xzu.4	Q96B02	OTTHUMG00000164517	ENST00000602593.1:c.73T>C	8.37:g.74742650A>G			Somatic				UBE2W_ENST00000453587.2_Silent_p.L25L|UBE2W_ENST00000602969.1_Silent_p.L36L|UBE2W_ENST00000419880.3_Silent_p.L65L|UBE2W_ENST00000602593.1_Silent_p.L25L|RP11-463D19.2_ENST00000358757.5_Silent_p.L25L	p.L54L			WXS	Illumina GAIIx	Phase_I	Q96B02	UBE2W_HUMAN	Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)		2	160	-	Breast(64;0.0311)		25					B4DIV1|Q1XBE0|Q9H823|Q9HAG6|Q9NV07	Silent	SNP	ENST00000602593.1	37	c.160T>C																																																																																					0.328	UBE2W-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001481		4	255	0	0	0	1	0	4	255				
NUTM1	256646	broad.mit.edu	37	15	34649099	34649099	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr15:34649099G>T	ENST00000333756.4	+	7	2961	c.2806G>T	c.(2806-2808)Gtg>Ttg	p.V936L	NUTM1_ENST00000537011.1_Missense_Mutation_p.V964L|NUTM1_ENST00000438749.3_Missense_Mutation_p.V954L	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	936						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGAAGGCAGGGTGGATCCTGA	0.493																																						ENST00000537011.1																			0											c.(2890-2892)Gtg>Ttg		NUT midline carcinoma, family member 1							71.0	64.0	67.0					15																	34649099		2201	4298	6499	SO:0001583	missense	256646							g.chr15:34649099G>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2806G>T	15.37:g.34649099G>T	ENSP00000329448:p.Val936Leu		Somatic				NUTM1_ENST00000438749.3_Missense_Mutation_p.V954L|NUTM1_ENST00000333756.4_Missense_Mutation_p.V936L	p.V964L			WXS	Illumina GAIIx	Phase_I					8	3272	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.2890G>T	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237893	0.39598	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.08193	3.12;3.12;3.12	5.09	4.18	0.49190	.	0.540277	0.18199	N	0.148581	T	0.08670	0.0215	L	0.34521	1.04	0.09310	N	0.999999	B;B;B	0.24920	0.07;0.114;0.033	B;B;B	0.33196	0.076;0.159;0.019	T	0.25779	-1.0122	10	0.45353	T	0.12	.	9.3306	0.38018	0.0965:0.0:0.9035:0.0	.	954;964;936	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	L	964;954;936	ENSP00000444896:V964L;ENSP00000407031:V954L;ENSP00000329448:V936L	ENSP00000329448:V936L	V	+	1	0	C15orf55	32436391	0.999000	0.42202	0.283000	0.24790	0.007000	0.05969	1.270000	0.33086	1.384000	0.46424	-0.136000	0.14681	GTG		0.493	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		4	289	1	0	0.000602214	1	0.000618403	4	289				
TNFSF10	8743	broad.mit.edu	37	3	172224541	172224541	+	Missense_Mutation	SNP	A	A	T	rs142608031		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:172224541A>T	ENST00000241261.2	-	5	709	c.587T>A	c.(586-588)aTa>aAa	p.I196K	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	196					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)	p.I196K(1)		breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GTTTTCTTTTATTTCCTCCTG	0.348																																						ENST00000241261.2																			1	Substitution - Missense(1)	p.I196K(1)	skin(1)	breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15						c.(586-588)aTa>aAa		tumor necrosis factor (ligand) superfamily, member 10							224.0	217.0	220.0					3																	172224541		2203	4300	6503	SO:0001583	missense	8743				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	g.chr3:172224541A>T	U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.587T>A	3.37:g.172224541A>T	ENSP00000241261:p.Ile196Lys		Somatic				TNFSF10_ENST00000420541.2_3'UTR	p.I196K	NM_003810.3	NP_003801.1	WXS	Illumina GAIIx	Phase_I	P50591	TNF10_HUMAN	Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		5	709	-	Ovarian(172;0.00197)|Breast(254;0.158)		196					A1Y9B3	Missense_Mutation	SNP	ENST00000241261.2	37	c.587T>A	CCDS3219.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.783508	0.00628	.	.	ENSG00000121858	ENST00000241261	D	0.93859	-3.3	4.84	-4.97	0.03029	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	1.453300	0.03511	N	0.219532	T	0.77308	0.4111	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.75897	-0.3155	10	0.06099	T	0.92	0.3419	4.9333	0.13928	0.1886:0.176:0.5401:0.0953	.	196	P50591	TNF10_HUMAN	K	196	ENSP00000241261:I196K	ENSP00000241261:I196K	I	-	2	0	TNFSF10	173707235	0.000000	0.05858	0.000000	0.03702	0.305000	0.27757	-0.689000	0.05144	-0.680000	0.05211	-0.256000	0.11100	ATA		0.348	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1			4	152	0	0	0	1	0	4	152				
GOLT1A	127845	broad.mit.edu	37	1	204170871	204170871	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:204170871C>T	ENST00000308302.3	-	3	371	c.186G>A	c.(184-186)cgG>cgA	p.R62R	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A									p.R62R(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGAGTTTGTGCCGTTGGAAGA	0.567																																						ENST00000308302.3																			1	Substitution - coding silent(1)	p.R62R(1)	urinary_tract(1)	kidney(1)|lung(2)|urinary_tract(1)	4						c.(184-186)cgG>cgA		golgi transport 1A							140.0	147.0	145.0					1																	204170871		2203	4300	6503	SO:0001819	synonymous_variant	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170871C>T	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"""golgi transport 1 homolog A (S. cerevisiae)"""			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.186G>A	1.37:g.204170871C>T			Somatic					p.R62R	NM_198447.1	NP_940849.1	WXS	Illumina GAIIx	Phase_I	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	371	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		62						Silent	SNP	ENST00000308302.3	37	c.186G>A	CCDS1443.1																																																																																				0.567	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		5	538	0	0	0	1	0	5	538				
KMT2D	8085	broad.mit.edu	37	12	49442951	49442951	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr12:49442951A>T	ENST00000301067.7	-	12	3956	c.3957T>A	c.(3955-3957)caT>caA	p.H1319Q		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1319	Arg-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CACGTCCTCCATGGGCTCCTC	0.572																																						ENST00000301067.7																			0											c.(3955-3957)caT>caA		lysine (K)-specific methyltransferase 2D							48.0	51.0	50.0					12																	49442951		1980	4146	6126	SO:0001583	missense	8085							g.chr12:49442951A>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3957T>A	12.37:g.49442951A>T	ENSP00000301067:p.His1319Gln		Somatic					p.H1319Q	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					12	3956	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.3957T>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.028464	0.35797	.	.	ENSG00000167548	ENST00000301067	T	0.79033	-1.23	5.78	0.768	0.18487	.	0.000000	0.36555	N	0.002535	T	0.61110	0.2321	N	0.22421	0.69	0.24821	N	0.992582	D	0.54601	0.967	B	0.41036	0.346	T	0.59032	-0.7530	10	0.87932	D	0	.	9.1674	0.37060	0.555:0.0:0.445:0.0	.	1319	O14686	MLL2_HUMAN	Q	1319	ENSP00000301067:H1319Q	ENSP00000301067:H1319Q	H	-	3	2	MLL2	47729218	0.003000	0.15002	0.997000	0.53966	0.963000	0.63663	-0.555000	0.05999	0.106000	0.17784	0.260000	0.18958	CAT		0.572	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			6	21	0	0	0	1	0	6	21				
ATP1A4	480	broad.mit.edu	37	1	160143468	160143468	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:160143468C>G	ENST00000368081.4	+	13	2423	c.1952C>G	c.(1951-1953)gCt>gGt	p.A651G	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	651					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGGAAGTCGCTGCCCGGCTT	0.547																																						ENST00000368081.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(1951-1953)gCt>gGt		ATPase, Na+/K+ transporting, alpha 4 polypeptide							104.0	83.0	91.0					1																	160143468		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160143468C>G	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1952C>G	1.37:g.160143468C>G	ENSP00000357060:p.Ala651Gly		Somatic				ATP1A4_ENST00000418334.1_3'UTR	p.A651G	NM_144699.3	NP_653300.2	WXS	Illumina GAIIx	Phase_I	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		13	2423	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		651					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.1952C>G	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557012	0.65425	.	.	ENSG00000132681	ENST00000368081	D	0.97352	-4.35	4.34	4.34	0.51931	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.053389	0.64402	D	0.000001	D	0.97383	0.9144	M	0.67517	2.055	0.80722	D	1	P	0.42039	0.769	P	0.57468	0.821	D	0.98389	1.0562	10	0.87932	D	0	.	14.7398	0.69445	0.0:1.0:0.0:0.0	.	651	Q13733	AT1A4_HUMAN	G	651	ENSP00000357060:A651G	ENSP00000357060:A651G	A	+	2	0	ATP1A4	158410092	1.000000	0.71417	0.912000	0.35992	0.107000	0.19398	7.625000	0.83145	2.407000	0.81776	0.655000	0.94253	GCT		0.547	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		43	179	0	0	0	1	0	43	179				
TTN	7273	broad.mit.edu	37	2	179584416	179584416	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:179584416G>A	ENST00000591111.1	-	80	23076	c.22852C>T	c.(22852-22854)Cat>Tat	p.H7618Y	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.H6691Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.H7935Y			Q8WZ42	TITIN_HUMAN	titin	13168	Ig-like 58.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAATGTGATGTTTGCTGTCT	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(23803-23805)Cat>Tat		titin							172.0	161.0	165.0					2																	179584416		1900	4117	6017	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584416G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22852C>T	2.37:g.179584416G>A	ENSP00000465570:p.His7618Tyr		Somatic				TTN_ENST00000342992.6_Missense_Mutation_p.H6691Y|TTN_ENST00000591111.1_Missense_Mutation_p.H7618Y|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	p.H7935Y	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		82	24027	-			7618			Ig-like 61.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.23803C>T		.	.	.	.	.	.	.	.	.	.	G	8.460	0.855189	0.17106	.	.	ENSG00000155657	ENST00000342992	T	0.64438	-0.1	6.08	6.08	0.98989	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37433	0.1003	N	0.02225	-0.63	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.33343	-0.9872	9	0.87932	D	0	.	10.5846	0.45275	0.1457:0.0:0.8543:0.0	.	7618	Q8WZ42	TITIN_HUMAN	Y	6691	ENSP00000343764:H6691Y	ENSP00000343764:H6691Y	H	-	1	0	TTN	179292661	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	1.580000	0.36547	2.894000	0.99253	0.655000	0.94253	CAT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	151	0	0	0	1	0	11	151				
ACTC1	70	broad.mit.edu	37	15	35083383	35083383	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr15:35083383A>G	ENST00000290378.4	-	6	1577	c.922T>C	c.(922-924)Tac>Cac	p.Y308H	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	308					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ATACCAGGGTACATAGTGGTG	0.448																																						ENST00000290378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31						c.(922-924)Tac>Cac		actin, alpha, cardiac muscle 1							327.0	289.0	302.0					15																	35083383		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35083383A>G	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.922T>C	15.37:g.35083383A>G	ENSP00000290378:p.Tyr308His		Somatic				ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000503496.1_RNA	p.Y308H	NM_005159.4	NP_005150.1	WXS	Illumina GAIIx	Phase_I	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	6	1577	-		all_lung(180;2.3e-08)	308					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.922T>C	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.752343	0.69533	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.97505	-4.41	5.49	5.49	0.81192	.	0.000000	0.49916	U	0.000139	D	0.98614	0.9536	M	0.86864	2.845	0.58432	D	0.999996	P	0.45634	0.863	D	0.74674	0.984	D	0.99723	1.1010	10	0.87932	D	0	.	15.8884	0.79273	1.0:0.0:0.0:0.0	.	308	P68032	ACTC_HUMAN	H	308;273	ENSP00000290378:Y308H	ENSP00000290378:Y308H	Y	-	1	0	ACTC1	32870675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.105000	0.94246	2.209000	0.71365	0.533000	0.62120	TAC		0.448	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		4	705	0	0	0	1	0	4	705				
MYOM1	8736	broad.mit.edu	37	18	3155065	3155065	+	Missense_Mutation	SNP	C	C	T	rs570677625		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr18:3155065C>T	ENST00000356443.4	-	11	1856	c.1523G>A	c.(1522-1524)gGa>gAa	p.G508E	MYOM1_ENST00000400569.3_Missense_Mutation_p.G508E|MYOM1_ENST00000261606.7_Missense_Mutation_p.G508E	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	508					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.G508E(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGCTGGGGCTCCTTCAATCTC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		17634	0.0		0.0	False		,,,				2504	0.001					ENST00000400569.3																			1	Substitution - Missense(1)	p.G508E(1)	lung(1)	NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1522-1524)gGa>gAa		myomesin 1							48.0	48.0	48.0					18																	3155065		1986	4158	6144	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3155065C>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1523G>A	18.37:g.3155065C>T	ENSP00000348821:p.Gly508Glu		Somatic				MYOM1_ENST00000356443.4_Missense_Mutation_p.G508E|MYOM1_ENST00000261606.7_Missense_Mutation_p.G508E	p.G508E			WXS	Illumina GAIIx	Phase_I	P52179	MYOM1_HUMAN			11	1856	-			508					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.1523G>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601352	0.87055	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.60299	0.2;0.2;0.2	4.88	4.88	0.63580	Fibronectin, type III (1);	0.055744	0.64402	D	0.000001	T	0.73171	0.3553	M	0.67700	2.07	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.988	T	0.68569	-0.5374	10	0.21540	T	0.41	.	18.2214	0.89903	0.0:1.0:0.0:0.0	.	508;508	P52179-2;P52179	.;MYOM1_HUMAN	E	508	ENSP00000348821:G508E;ENSP00000383413:G508E;ENSP00000261606:G508E	ENSP00000261606:G508E	G	-	2	0	MYOM1	3145065	1.000000	0.71417	0.998000	0.56505	0.850000	0.48378	7.577000	0.82486	2.528000	0.85240	0.650000	0.86243	GGA		0.527	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		22	118	0	0	0	1	0	22	118				
RHOA	387	broad.mit.edu	37	3	49395482	49395482	+	IGR	SNP	G	G	C	rs201944086	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:49395482G>C	ENST00000418115.1	-	0	2031				GPX1_ENST00000419783.1_Missense_Mutation_p.P77R|GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGGTTGCACGGGAAGCCGAG	0.726																																						ENST00000419783.1																			0				breast(1)|large_intestine(2)|lung(1)	4						c.(229-231)cCg>cGg		glutathione peroxidase 1	Glutathione(DB00143)						11.0	14.0	13.0					3																	49395482		1848	4061	5909	SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49395482G>C	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395482G>C			Somatic				GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Missense_Mutation_p.P77R	p.P77R	NM_000581.2	NP_000572.2	WXS	Illumina GAIIx	Phase_I	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	551	-			77					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.230C>G	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	G	36	5.745728	0.96882	.	.	ENSG00000233276	ENST00000419783;ENST00000419349	T;T	0.25085	1.82;1.82	5.88	5.88	0.94601	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	M	0.93150	3.385	0.80722	D	1	D;D	0.71674	0.998;0.988	D;P	0.68483	0.958;0.891	T	0.72279	-0.4340	10	0.87932	D	0	.	18.8152	0.92075	0.0:0.0:1.0:0.0	.	77;77	E9PAS1;P07203	.;GPX1_HUMAN	R	77	ENSP00000407375:P77R;ENSP00000391316:P77R	ENSP00000391316:P77R	P	-	2	0	GPX1	49370486	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.875000	0.87205	2.788000	0.95919	0.555000	0.69702	CCG		0.726	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		3	6	0	0	0	1	0	3	6				
MSR1	4481	broad.mit.edu	37	8	15967631	15967631	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:15967631G>T	ENST00000262101.5	-	10	1440	c.1319C>A	c.(1318-1320)tCa>tAa	p.S440*	MSR1_ENST00000445506.2_Nonsense_Mutation_p.S458*|MSR1_ENST00000350896.3_Nonsense_Mutation_p.S377*|MSR1_ENST00000355282.2_Nonsense_Mutation_p.S377*			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	440	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTCAGAATGTGAACAGGCTCT	0.378																																						ENST00000350896.3																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1129-1131)tCa>tAa		macrophage scavenger receptor 1							94.0	95.0	95.0					8																	15967631		2203	4300	6503	SO:0001587	stop_gained	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:15967631G>T	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.1319C>A	8.37:g.15967631G>T	ENSP00000262101:p.Ser440*		Somatic				MSR1_ENST00000262101.5_Nonsense_Mutation_p.S440*|MSR1_ENST00000355282.2_Nonsense_Mutation_p.S377*|MSR1_ENST00000445506.2_Nonsense_Mutation_p.S458*	p.S377*	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	WXS	Illumina GAIIx	Phase_I	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	9	1327	-			440			SRCR.		D3DSP3|O60505|P21759|Q45F10	Nonsense_Mutation	SNP	ENST00000262101.5	37	c.1130C>A	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614835	0.87359	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282	.	.	.	5.08	3.17	0.36434	.	0.947166	0.08646	N	0.914733	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	7.351	0.26691	0.0:0.1823:0.6291:0.1886	.	.	.	.	X	377;440;458;377	.	ENSP00000262101:S440X	S	-	2	0	MSR1	16012002	0.883000	0.30277	0.400000	0.26346	0.391000	0.30476	1.658000	0.37376	2.515000	0.84797	0.650000	0.86243	TCA		0.378	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			21	93	1	0	3.8784e-16	1	4.18517e-16	21	93				
SLC25A32	81034	broad.mit.edu	37	8	104427735	104427735	+	5'Flank	SNP	T	T	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:104427735T>G	ENST00000297578.4	-	0	0				DCAF13_ENST00000519682.1_Missense_Mutation_p.L17V|SLC25A32_ENST00000543107.1_5'Flank|DCAF13_ENST00000521999.1_3'UTR|DCAF13_ENST00000521716.1_Missense_Mutation_p.L17V|DCAF13_ENST00000521971.1_Missense_Mutation_p.L17V|DCAF13_ENST00000297579.5_Missense_Mutation_p.L173V	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32						folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	CAAGTTGGACTTACAGAGAGG	0.567																																						ENST00000297579.5																			0				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(517-519)Tta>Gta		DDB1 and CUL4 associated factor 13							25.0	28.0	27.0					8																	104427735		2201	4300	6501	SO:0001631	upstream_gene_variant	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104427735T>G	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790		8.37:g.104427735T>G	Exception_encountered		Somatic				DCAF13_ENST00000519682.1_Missense_Mutation_p.L17V|DCAF13_ENST00000521716.1_Missense_Mutation_p.L17V|DCAF13_ENST00000521971.1_Missense_Mutation_p.L17V|DCAF13_ENST00000521999.1_3'UTR	p.L173V	NM_015420.6	NP_056235.4	WXS	Illumina GAIIx	Phase_I	Q9NV06	DCA13_HUMAN			1	794	+			21					Q96JZ6|Q96SU7	Missense_Mutation	SNP	ENST00000297578.4	37	c.517T>G	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.930983	0.34096	.	.	ENSG00000164934	ENST00000297579;ENST00000521716;ENST00000521971;ENST00000388778;ENST00000519682	T;T;T;T	0.01359	4.98;4.98;4.98;4.98	4.67	-0.596	0.11657	.	0.374067	0.26390	N	0.024658	T	0.00815	0.0027	N	0.13043	0.29	0.30899	N	0.729525	B	0.15719	0.014	B	0.14023	0.01	T	0.42531	-0.9446	10	0.19590	T	0.45	-3.1328	3.1866	0.06603	0.3548:0.2512:0.0:0.394	.	21	B3KME9	.	V	173;17;17;21;17	ENSP00000297579:L173V;ENSP00000430645:L17V;ENSP00000430883:L17V;ENSP00000430411:L17V	ENSP00000297579:L173V	L	+	1	2	DCAF13	104496911	0.998000	0.40836	0.997000	0.53966	0.988000	0.76386	1.178000	0.31981	0.032000	0.15435	0.533000	0.62120	TTA		0.567	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		44	39	0	0	0	1	0	44	39				
WDHD1	11169	broad.mit.edu	37	14	55448374	55448374	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr14:55448374C>G	ENST00000360586.3	-	16	2012	c.1947G>C	c.(1945-1947)atG>atC	p.M649I	WDHD1_ENST00000421192.1_Missense_Mutation_p.M526I|WDHD1_ENST00000359167.4_Missense_Mutation_p.M167I|WDHD1_ENST00000420358.2_Missense_Mutation_p.M526I	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	649					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CTCTGTTAAGCATTCGAACAA	0.403																																						ENST00000360586.3																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.(1945-1947)atG>atC		WD repeat and HMG-box DNA binding protein 1							115.0	100.0	105.0					14																	55448374		2203	4300	6503	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55448374C>G	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.1947G>C	14.37:g.55448374C>G	ENSP00000353793:p.Met649Ile		Somatic				WDHD1_ENST00000421192.1_Missense_Mutation_p.M526I|WDHD1_ENST00000359167.4_Missense_Mutation_p.M167I|WDHD1_ENST00000420358.2_Missense_Mutation_p.M526I	p.M649I	NM_007086.3	NP_009017.1	WXS	Illumina GAIIx	Phase_I	O75717	WDHD1_HUMAN			16	2012	-			649					C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.1947G>C	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627379	0.46944	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.61392	0.5;0.93;0.11	5.71	4.82	0.62117	.	0.173980	0.64402	D	0.000011	T	0.44829	0.1312	L	0.31371	0.925	0.49389	D	0.999781	B;B	0.12013	0.005;0.0	B;B	0.15870	0.014;0.003	T	0.27571	-1.0070	10	0.19147	T	0.46	-15.1354	15.0405	0.71788	0.0:0.931:0.0:0.069	.	167;649	F8W7P7;O75717	.;WDHD1_HUMAN	I	649;167;526	ENSP00000353793:M649I;ENSP00000352085:M167I;ENSP00000391049:M526I	ENSP00000352085:M167I	M	-	3	0	WDHD1	54518124	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.708000	0.61859	2.708000	0.92522	0.585000	0.79938	ATG		0.403	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		23	84	0	0	0	1	0	23	84				
U2SURP	23350	broad.mit.edu	37	3	142740313	142740313	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:142740313A>T	ENST00000473835.2	+	10	859		c.e10-1		U2SURP_ENST00000397933.2_Splice_Site|U2SURP_ENST00000493598.2_Splice_Site	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing						RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TTTCTGCCCTAGTTCTTGATG	0.328																																						ENST00000397933.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.e10-1		U2 snRNP-associated SURP domain containing							79.0	70.0	73.0					3																	142740313		1821	4084	5905	SO:0001630	splice_region_variant	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142740313A>T	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.770-1A>T	3.37:g.142740313A>T			Somatic				U2SURP_ENST00000493598.2_Splice_Site|U2SURP_ENST00000473835.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	O15042	SR140_HUMAN			10	868	+								A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Splice_Site	SNP	ENST00000473835.2	37		CCDS46928.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.340030	0.60963	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000493598	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7038	0.77563	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	U2SURP	144223003	1.000000	0.71417	0.956000	0.39512	0.601000	0.36947	8.962000	0.93254	2.105000	0.64084	0.383000	0.25322	.		0.328	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415	Intron	3	52	0	0	0	1	0	3	52				
GEMIN8	54960	broad.mit.edu	37	X	14038511	14038511	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chrX:14038511G>C	ENST00000380523.4	-	4	476	c.158C>G	c.(157-159)cCa>cGa	p.P53R	GEMIN8_ENST00000398355.3_Missense_Mutation_p.P53R|GEMIN8_ENST00000460203.1_5'UTR	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	53					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						TAAGTACCATGGAAGATTGAA	0.473																																						ENST00000380523.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						c.(157-159)cCa>cGa		gem (nuclear organelle) associated protein 8							131.0	116.0	121.0					X																	14038511		2203	4300	6503	SO:0001583	missense	54960				spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding	g.chrX:14038511G>C	BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"""family with sequence similarity 51, member A1"""	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.158C>G	X.37:g.14038511G>C	ENSP00000369895:p.Pro53Arg		Somatic				GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.P53R	p.P53R	NM_017856.2	NP_060326.1	WXS	Illumina GAIIx	Phase_I	Q9NWZ8	GEMI8_HUMAN			4	476	-			53					C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	37	c.158C>G	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	g	13.98	2.399687	0.42512	.	.	ENSG00000046647	ENST00000380523;ENST00000398355;ENST00000332885	T;T;T	0.43688	0.94;0.94;0.94	4.98	2.25	0.28309	.	0.520319	0.20818	N	0.085113	T	0.55924	0.1951	M	0.72894	2.215	0.09310	N	1	D	0.63046	0.992	P	0.62298	0.9	T	0.48681	-0.9014	10	0.72032	D	0.01	.	8.5531	0.33465	0.2582:0.0:0.7418:0.0	.	53	Q9NWZ8	GEMI8_HUMAN	R	53	ENSP00000369895:P53R;ENSP00000381398:P53R;ENSP00000369894:P53R	ENSP00000369894:P53R	P	-	2	0	GEMIN8	13948432	0.012000	0.17670	0.001000	0.08648	0.024000	0.10985	1.582000	0.36568	0.057000	0.16193	0.523000	0.50628	CCA		0.473	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055815.1	NM_017856		7	266	0	0	0	1	0	7	266				
CDCP2	200008	broad.mit.edu	37	1	54610216	54610216	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:54610216G>A	ENST00000371330.1	-	2	1197	c.350C>T	c.(349-351)tCc>tTc	p.S117F	RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_Intron	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	117	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GACATGCCAGGAGGAGGTGAA	0.602																																						ENST00000371330.1																			0				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						c.(349-351)tCc>tTc		CUB domain containing protein 2							58.0	57.0	57.0					1																	54610216		2203	4300	6503	SO:0001583	missense	200008					extracellular region		g.chr1:54610216G>A		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.350C>T	1.37:g.54610216G>A	ENSP00000360381:p.Ser117Phe		Somatic				RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_Intron	p.S117F	NM_201546.2	NP_963840.2	WXS	Illumina GAIIx	Phase_I	Q5VXM1	CDCP2_HUMAN			2	1197	-			117			CUB 1.		Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	c.350C>T	CCDS588.2	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011482	0.93346	.	.	ENSG00000157211	ENST00000371330	T	0.19532	2.14	5.36	5.36	0.76844	CUB (5);	0.144256	0.47852	D	0.000210	T	0.48295	0.1492	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.45512	-0.9256	10	0.56958	D	0.05	-35.5995	19.0949	0.93246	0.0:0.0:1.0:0.0	.	117	Q5VXM1	CDCP2_HUMAN	F	117	ENSP00000360381:S117F	ENSP00000360381:S117F	S	-	2	0	CDCP2	54382804	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	9.802000	0.99131	2.508000	0.84585	0.591000	0.81541	TCC		0.602	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		23	68	0	0	0	1	0	23	68				
ARMC8	25852	broad.mit.edu	37	3	137947854	137947854	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:137947854T>A	ENST00000469044.1	+	6	799		c.e6+2		ARMC8_ENST00000538260.1_Intron|ARMC8_ENST00000491704.1_Splice_Site|ARMC8_ENST00000461822.1_Splice_Site|ARMC8_ENST00000470821.1_Splice_Site|ARMC8_ENST00000481646.1_Splice_Site|ARMC8_ENST00000471453.1_Splice_Site|ARMC8_ENST00000485396.1_Intron|ARMC8_ENST00000489213.1_Splice_Site|ARMC8_ENST00000358441.2_Splice_Site|ARMC8_ENST00000393058.3_Splice_Site	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8											endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TGCTGTAAAGTAAGAACCAGA	0.418																																						ENST00000469044.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.e6+2		armadillo repeat containing 8							63.0	57.0	59.0					3																	137947854		2203	4300	6503	SO:0001630	splice_region_variant	25852						binding	g.chr3:137947854T>A		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.528+2T>A	3.37:g.137947854T>A			Somatic				ARMC8_ENST00000358441.2_Splice_Site|ARMC8_ENST00000538260.1_Intron|ARMC8_ENST00000461822.1_Splice_Site|ARMC8_ENST00000491704.1_Splice_Site|ARMC8_ENST00000489213.1_Splice_Site|ARMC8_ENST00000393058.3_Splice_Site|ARMC8_ENST00000485396.1_Intron|ARMC8_ENST00000481646.1_Splice_Site|ARMC8_ENST00000471453.1_Splice_Site|ARMC8_ENST00000470821.1_Splice_Site		NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	WXS	Illumina GAIIx	Phase_I	Q8IUR7	ARMC8_HUMAN			6	799	+								A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Splice_Site	SNP	ENST00000469044.1	37			.	.	.	.	.	.	.	.	.	.	T	20.4	3.990917	0.74703	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000461600;ENST00000358441;ENST00000489213;ENST00000461822;ENST00000471453;ENST00000470821;ENST00000393058;ENST00000463485;ENST00000539459	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2629	0.60115	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARMC8	139430544	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.930000	0.87610	2.034000	0.60081	0.454000	0.30748	.		0.418	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396	Intron	4	64	0	0	0	1	0	4	64				
VDAC3	7419	broad.mit.edu	37	8	42260890	42260890	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:42260890T>C	ENST00000022615.4	+	8	681	c.613T>C	c.(613-615)Tcc>Ccc	p.S205P	VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000521158.1_Missense_Mutation_p.S206P|VDAC3_ENST00000392935.3_Missense_Mutation_p.S206P			Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	205					adenine transport (GO:0015853)	extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	GATTGAAACATCCATAAACCT	0.398																																						ENST00000392935.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						c.(616-618)Tcc>Ccc		voltage-dependent anion channel 3	Dihydroxyaluminium(DB01375)						196.0	172.0	180.0					8																	42260890		2203	4300	6503	SO:0001583	missense	7419				adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	g.chr8:42260890T>C	AF038962	CCDS6131.1, CCDS47850.1	8p11.21	2011-11-15			ENSG00000078668	ENSG00000078668		"""Voltage-dependent anion channels"""	12674	protein-coding gene	gene with protein product		610029				9653160, 9781040	Standard	NM_001135694		Approved	HD-VDAC3	uc003xpc.3	Q9Y277	OTTHUMG00000164168	ENST00000022615.4:c.613T>C	8.37:g.42260890T>C	ENSP00000022615:p.Ser205Pro		Somatic				VDAC3_ENST00000521158.1_Missense_Mutation_p.S206P|VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000022615.4_Missense_Mutation_p.S205P	p.S206P	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	WXS	Illumina GAIIx	Phase_I	Q9Y277	VDAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		8	759	+	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	205					Q9UIS0	Missense_Mutation	SNP	ENST00000022615.4	37	c.616T>C	CCDS6131.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.441316	0.83993	.	.	ENSG00000078668	ENST00000392935;ENST00000521158;ENST00000022615	T;T;T	0.42900	0.96;0.96;0.96	5.73	5.73	0.89815	.	0.058092	0.64402	D	0.000001	T	0.54255	0.1847	M	0.68952	2.095	0.58432	D	0.999998	D	0.55172	0.97	P	0.52386	0.697	T	0.59300	-0.7480	10	0.87932	D	0	-8.5242	14.2659	0.66118	0.0:0.0:0.0:1.0	.	205	Q9Y277	VDAC3_HUMAN	P	206;206;205	ENSP00000442811:S206P;ENSP00000428845:S206P;ENSP00000022615:S205P	ENSP00000022615:S205P	S	+	1	0	VDAC3	42380047	1.000000	0.71417	0.933000	0.37362	0.979000	0.70002	4.279000	0.58953	2.302000	0.77476	0.533000	0.62120	TCC		0.398	VDAC3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377574.1			7	252	0	0	0	1	0	7	252				
PARP8	79668	broad.mit.edu	37	5	49962953	49962953	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr5:49962953G>C	ENST00000281631.5	+	1	182	c.24G>C	c.(22-24)gaG>gaC	p.E8D	PARP8_ENST00000513738.1_Missense_Mutation_p.E8D|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.E8D|PARP8_ENST00000503665.1_Missense_Mutation_p.E8D|PARP8_ENST00000503750.2_Missense_Mutation_p.E8D|PARP8_ENST00000505697.2_Missense_Mutation_p.E8D|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000505554.1_5'Flank	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	8						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAAGGCAAGAGCGAATTCAGA	0.517																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(22-24)gaG>gaC		poly (ADP-ribose) polymerase family, member 8							123.0	131.0	128.0					5																	49962953		1368	2329	3697	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:49962953G>C	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.24G>C	5.37:g.49962953G>C	ENSP00000281631:p.Glu8Asp		Somatic				PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.E8D|PARP8_ENST00000513738.1_Missense_Mutation_p.E8D|PARP8_ENST00000505697.2_Missense_Mutation_p.E8D|PARP8_ENST00000514067.2_Missense_Mutation_p.E8D|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000503665.1_Missense_Mutation_p.E8D	p.E8D	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	WXS	Illumina GAIIx	Phase_I	Q8N3A8	PARP8_HUMAN			1	182	+		Lung NSC(810;0.0305)|Breast(144;0.222)	8					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.24G>C	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746053	0.30955	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000503888;ENST00000502524;ENST00000515175;ENST00000281631;ENST00000513738;ENST00000503665;ENST00000514067;ENST00000503046;ENST00000503193	.	.	.	4.23	3.35	0.38373	.	0.000000	0.64402	D	0.000001	T	0.48040	0.1478	N	0.08118	0	0.80722	D	1	P;B	0.49696	0.927;0.007	D;B	0.67725	0.953;0.014	T	0.41734	-0.9492	8	.	.	.	-15.5843	11.0701	0.47997	0.0924:0.0:0.9076:0.0	.	8;8	Q8N3A8-2;Q8N3A8	.;PARP8_HUMAN	D	8	.	.	E	+	3	2	PARP8	49998710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.399000	0.59703	0.978000	0.38470	0.556000	0.70494	GAG		0.517	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		4	186	0	0	0	1	0	4	186				
ASPM	259266	broad.mit.edu	37	1	197111787	197111787	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:197111787A>T	ENST00000367409.4	-	3	1851	c.1595T>A	c.(1594-1596)aTa>aAa	p.I532K	ASPM_ENST00000294732.7_Missense_Mutation_p.I532K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	532					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGATTATTTATTACTTTTTC	0.318																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(1594-1596)aTa>aAa		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							127.0	134.0	132.0					1																	197111787		2201	4300	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197111787A>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1595T>A	1.37:g.197111787A>T	ENSP00000356379:p.Ile532Lys		Somatic				ASPM_ENST00000294732.7_Missense_Mutation_p.I532K	p.I532K	NM_018136.4	NP_060606.3	WXS	Illumina GAIIx	Phase_I	Q8IZT6	ASPM_HUMAN			3	1851	-			532					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.1595T>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.562113	0.45590	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.57436	0.4;1.66	4.86	1.23	0.21249	.	1.450460	0.04216	N	0.332719	T	0.37489	0.1005	N	0.19112	0.55	0.09310	N	1	B;B	0.16802	0.019;0.0	B;B	0.14578	0.011;0.0	T	0.31138	-0.9954	10	0.66056	D	0.02	.	4.1549	0.10256	0.5084:0.1761:0.3155:0.0	.	532;532	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	K	532	ENSP00000356379:I532K;ENSP00000294732:I532K	ENSP00000294732:I532K	I	-	2	0	ASPM	195378410	0.001000	0.12720	0.000000	0.03702	0.544000	0.35116	1.239000	0.32719	0.118000	0.18165	0.523000	0.50628	ATA		0.318	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		4	101	0	0	0	1	0	4	101				
PTK2B	2185	broad.mit.edu	37	8	27301762	27301762	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:27301762C>T	ENST00000397501.1	+	28	2996	c.2188C>T	c.(2188-2190)Ctc>Ttc	p.L730F	PTK2B_ENST00000338238.4_Missense_Mutation_p.L730F|PTK2B_ENST00000517339.1_Missense_Mutation_p.L730F|PTK2B_ENST00000420218.2_Missense_Mutation_p.L730F|PTK2B_ENST00000346049.5_Missense_Mutation_p.L730F|PTK2B_ENST00000544172.1_Missense_Mutation_p.L730F|PTK2B_ENST00000397497.4_Missense_Mutation_p.L476F	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	730	Pro-rich.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	GCAAACCAACCTCCTGGCTCC	0.537																																						ENST00000397501.1																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(2188-2190)Ctc>Ttc		protein tyrosine kinase 2 beta							119.0	105.0	110.0					8																	27301762		2203	4300	6503	SO:0001583	missense	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27301762C>T	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2188C>T	8.37:g.27301762C>T	ENSP00000380638:p.Leu730Phe		Somatic				PTK2B_ENST00000420218.2_Missense_Mutation_p.L730F|PTK2B_ENST00000346049.5_Missense_Mutation_p.L730F|PTK2B_ENST00000397497.4_Missense_Mutation_p.L476F|PTK2B_ENST00000544172.1_Missense_Mutation_p.L730F|PTK2B_ENST00000338238.4_Missense_Mutation_p.L730F|PTK2B_ENST00000517339.1_Missense_Mutation_p.L730F	p.L730F	NM_173174.2	NP_775266.1	WXS	Illumina GAIIx	Phase_I	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	28	2996	+		Ovarian(32;2.72e-05)	730			Pro-rich.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	c.2188C>T	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931154	0.34096	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	T;T;T;T;T;T;T	0.75260	-0.88;-0.92;-0.88;-0.88;-0.92;-0.92;-0.91	4.93	4.93	0.64822	.	0.112164	0.64402	D	0.000009	T	0.61337	0.2339	L	0.29908	0.895	0.47037	D	0.999297	B;B;B	0.32467	0.372;0.028;0.004	B;B;B	0.29267	0.1;0.032;0.005	T	0.58781	-0.7576	10	0.16896	T	0.51	.	15.6928	0.77469	0.0:1.0:0.0:0.0	.	476;730;730	E9PBI4;Q14289-2;Q14289	.;.;FAK2_HUMAN	F	730;735;730;730;730;730;730;476	ENSP00000380638:L730F;ENSP00000342242:L730F;ENSP00000440926:L730F;ENSP00000332816:L730F;ENSP00000391995:L730F;ENSP00000427931:L730F;ENSP00000380634:L476F	ENSP00000342242:L730F	L	+	1	0	PTK2B	27357679	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	3.298000	0.51818	2.542000	0.85734	0.655000	0.94253	CTC		0.537	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		15	96	0	0	0	1	0	15	96				
PGBD3	267004	broad.mit.edu	37	10	50725150	50725150	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr10:50725150G>T	ENST00000374127.3	-	2	212	c.11C>A	c.(10-12)aCa>aAa	p.T4K	PGBD3_ENST00000603152.1_Missense_Mutation_p.T472K|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.T472K|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.T472K|PGBD3_ENST00000508005.2_Missense_Mutation_p.T4K	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	4										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						TAAACTTAGTGTTCGAGGCAT	0.378																																						ENST00000515869.1																			0											c.(1414-1416)aCa>aAa									93.0	95.0	94.0					10																	50725150		2202	4300	6502	SO:0001583	missense	101243544							g.chr10:50725150G>T	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.11C>A	10.37:g.50725150G>T	ENSP00000363242:p.Thr4Lys		Somatic				ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000374127.3_Missense_Mutation_p.T4K|PGBD3_ENST00000508005.2_Missense_Mutation_p.T4K|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.T472K|PGBD3_ENST00000603152.1_Missense_Mutation_p.T472K	p.T472K	NM_001277059.1	NP_001263988.1	WXS	Illumina GAIIx	Phase_I					6	1535	-								B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	ENST00000374127.3	37	c.1415C>A	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542141	0.45280	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.13196	2.61;2.61;3.5;3.5	0.468	0.468	0.16732	.	.	.	.	.	T	0.11410	0.0278	N	0.08118	0	0.22081	N	0.999372	P;P	0.51653	0.947;0.947	P;P	0.55965	0.788;0.788	T	0.31724	-0.9933	8	0.31617	T	0.26	-24.3006	.	.	.	.	472;4	E7EV46;Q8N328	.;PGBD3_HUMAN	K	4;4;472;472	ENSP00000363242:T4K;ENSP00000426963:T4K;ENSP00000423550:T472K;ENSP00000387966:T472K	ENSP00000387966:T472K	T	-	2	0	PGBD3;RP11-123B3.6	50395156	0.048000	0.20356	0.948000	0.38648	0.945000	0.59286	0.186000	0.16978	0.488000	0.27723	0.491000	0.48974	ACA		0.378	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			7	308	1	0	8.12818e-05	1	8.48351e-05	7	308				
HS6ST2	90161	broad.mit.edu	37	X	131762617	131762617	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chrX:131762617A>G	ENST00000370836.2	-	4	1867	c.1452T>C	c.(1450-1452)gaT>gaC	p.D484D	HS6ST2_ENST00000521489.1_Silent_p.D524D|HS6ST2_ENST00000370833.2_Silent_p.D378D|HS6ST2_ENST00000406696.3_Silent_p.D210D	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	484					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ACAACTCCATATCCAGAAAAT	0.428																																						ENST00000370836.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9						c.(1450-1452)gaT>gaC		heparan sulfate 6-O-sulfotransferase 2							186.0	177.0	180.0					X																	131762617		1895	4105	6000	SO:0001819	synonymous_variant	90161					integral to membrane	sulfotransferase activity	g.chrX:131762617A>G	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1452T>C	X.37:g.131762617A>G			Somatic				HS6ST2_ENST00000406696.3_Silent_p.D210D|HS6ST2_ENST00000521489.1_Silent_p.D524D|HS6ST2_ENST00000370837.1_Silent_p.D338D|HS6ST2_ENST00000370833.2_Silent_p.D378D	p.D484D	NM_147175.3	NP_671704.3	WXS	Illumina GAIIx	Phase_I	Q96MM7	H6ST2_HUMAN			4	1867	-	Acute lymphoblastic leukemia(192;0.000127)		484					B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Silent	SNP	ENST00000370836.2	37	c.1452T>C	CCDS48169.1																																																																																				0.428	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174		6	563	0	0	0	1	0	6	563				
RSL1D1	26156	broad.mit.edu	37	16	11935564	11935564	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr16:11935564A>T	ENST00000571133.1	-	7	915	c.843T>A	c.(841-843)aaT>aaA	p.N281K	RSL1D1_ENST00000542106.1_Missense_Mutation_p.N61K	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	281					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTTTCTTCTTATTAAGCAAAG	0.383																																						ENST00000571133.1																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						c.(841-843)aaT>aaA		ribosomal L1 domain containing 1							53.0	55.0	54.0					16																	11935564		2197	4300	6497	SO:0001583	missense	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11935564A>T	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.843T>A	16.37:g.11935564A>T	ENSP00000460871:p.Asn281Lys		Somatic				RSL1D1_ENST00000542106.1_Missense_Mutation_p.N61K	p.N281K	NM_015659.2	NP_056474.2	WXS	Illumina GAIIx	Phase_I	O76021	RL1D1_HUMAN			7	915	-			281					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Missense_Mutation	SNP	ENST00000571133.1	37	c.843T>A	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	A	0.981	-0.697172	0.03279	.	.	ENSG00000171490	ENST00000355674;ENST00000396503;ENST00000542106	T	0.41065	1.01	4.72	-9.44	0.00603	.	3.319120	0.00998	N	0.003628	T	0.18045	0.0433	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.38045	-0.9679	10	0.06099	T	0.92	12.8272	0.7955	0.01065	0.169:0.2047:0.2225:0.4037	.	281;281	Q32Q62;O76021	.;RL1D1_HUMAN	K	280;281;61	ENSP00000347897:N280K	ENSP00000347897:N280K	N	-	3	2	RSL1D1	11843065	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.582000	0.00424	-2.522000	0.00497	-0.619000	0.04042	AAT		0.383	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659		4	54	0	0	0	1	0	4	54				
ZNF302	55900	broad.mit.edu	37	19	35173795	35173795	+	Silent	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr19:35173795C>A	ENST00000446502.2	+	4	463	c.255C>A	c.(253-255)gtC>gtA	p.V85V	ZNF302_ENST00000509528.1_Intron|ZNF302_ENST00000423823.2_Silent_p.V41V|ZNF302_ENST00000507959.1_Silent_p.V41V|ZNF302_ENST00000505365.2_Silent_p.V41V|ZNF302_ENST00000457781.2_Silent_p.V41V|ZNF302_ENST00000505242.1_Silent_p.V41V			Q9NR11	ZN302_HUMAN	zinc finger protein 302	41					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)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGAACCTGGTCTCTGTAGGTA	0.453																																						ENST00000505365.2																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(121-123)gtC>gtA		zinc finger protein 302							177.0	153.0	161.0					19																	35173795		1979	4147	6126	SO:0001819	synonymous_variant	55900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35173795C>A	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.255C>A	19.37:g.35173795C>A			Somatic				ZNF302_ENST00000505242.1_Silent_p.V41V|ZNF302_ENST00000446502.2_Silent_p.V85V|ZNF302_ENST00000423823.2_Silent_p.V41V|ZNF302_ENST00000507959.1_Silent_p.V41V|ZNF302_ENST00000509528.1_Intron|ZNF302_ENST00000457781.2_Silent_p.V41V	p.V41V			WXS	Illumina GAIIx	Phase_I	Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		3	459	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		41			KRAB.		Q658J3|Q9BZD8|Q9P0J4	Silent	SNP	ENST00000446502.2	37	c.123C>A																																																																																					0.453	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1			6	263	1	0	0.217242	1	0.218386	6	263				
SCN3A	6328	broad.mit.edu	37	2	165946662	165946662	+	Nonstop_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:165946662A>T	ENST00000360093.3	-	28	6492	c.6001T>A	c.(6001-6003)Taa>Aaa	p.*2001K	AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Nonstop_Mutation_p.*2001K|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000409101.3_Nonstop_Mutation_p.*1952K|SCN3A_ENST00000540861.1_Nonstop_Mutation_p.*484K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	0					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTTCTTTTTACTTTTGATTT	0.348																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(6001-6003)Taa>Aaa		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						53.0	52.0	52.0					2																	165946662		2201	4296	6497	SO:0001578	stop_lost	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165946662A>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.6001T>A	2.37:g.165946662A>T			Somatic				SCN3A_ENST00000540861.1_Nonstop_Mutation_p.*484K|SCN3A_ENST00000409101.3_Nonstop_Mutation_p.*1952K|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Nonstop_Mutation_p.*2001K	p.*2001K	NM_001081677.1	NP_001075146.1	WXS	Illumina GAIIx	Phase_I	Q9NY46	SCN3A_HUMAN			28	6492	-			0					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Nonstop_Mutation	SNP	ENST00000360093.3	37	c.6001T>A		.	.	.	.	.	.	.	.	.	.	A	15.06	2.721842	0.48728	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1292	0.72507	1.0:0.0:0.0:0.0	.	.	.	.	K	2001;2001;1952;484	.	.	X	-	1	0	SCN3A	165654908	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.401000	0.66326	2.308000	0.77769	0.533000	0.62120	TAA		0.348	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		3	9	0	0	0	1	0	3	9				
TMEM92	162461	broad.mit.edu	37	17	48351884	48351884	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr17:48351884G>A	ENST00000300433.3	+	2	132	c.22G>A	c.(22-24)Ggc>Agc	p.G8S	TMEM92_ENST00000507382.1_Missense_Mutation_p.G8S	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	8						integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						TTGGGTCCCCGGCCTCGCGCC	0.612																																						ENST00000300433.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						c.(22-24)Ggc>Agc		transmembrane protein 92							42.0	40.0	41.0					17																	48351884		2203	4300	6503	SO:0001583	missense	162461					integral to membrane		g.chr17:48351884G>A		CCDS11562.1	17q21.33	2005-12-13							26579	protein-coding gene	gene with protein product						12975309	Standard	NM_153229		Approved	FLJ33318	uc002iqn.2	Q6UXU6		ENST00000300433.3:c.22G>A	17.37:g.48351884G>A	ENSP00000300433:p.Gly8Ser		Somatic				TMEM92_ENST00000507382.1_Missense_Mutation_p.G8S	p.G8S	NM_001168215.1	NP_001161687.1	WXS	Illumina GAIIx	Phase_I	Q6UXU6	TMM92_HUMAN			2	132	+			8					Q8NBF0	Missense_Mutation	SNP	ENST00000300433.3	37	c.22G>A	CCDS11562.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810601	0.32053	.	.	ENSG00000167105	ENST00000300433;ENST00000507382	T;T	0.08458	3.09;3.09	4.33	0.856	0.19019	.	1.383730	0.04871	N	0.445972	T	0.05686	0.0149	L	0.41236	1.265	0.09310	N	1	P	0.42961	0.795	B	0.29176	0.099	T	0.35798	-0.9774	10	0.66056	D	0.02	-4.001	1.4057	0.02280	0.1314:0.1906:0.4205:0.2576	.	8	Q6UXU6	TMM92_HUMAN	S	8	ENSP00000300433:G8S;ENSP00000425144:G8S	ENSP00000300433:G8S	G	+	1	0	TMEM92	45706883	0.000000	0.05858	0.259000	0.24435	0.509000	0.34042	0.183000	0.16919	0.395000	0.25257	0.491000	0.48974	GGC		0.612	TMEM92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367053.2	NM_153229		3	51	0	0	0	1	0	3	51				
DGKG	1608	broad.mit.edu	37	3	185906162	185906162	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:185906162C>T	ENST00000265022.3	-	22	2463	c.1924G>A	c.(1924-1926)Ggg>Agg	p.G642R	DGKG_ENST00000544847.1_Missense_Mutation_p.G583R|DGKG_ENST00000344484.4_Missense_Mutation_p.G617R|DGKG_ENST00000382164.4_Missense_Mutation_p.G603R	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	642					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ACCCCAACCCCATCACACTGG	0.527																																						ENST00000265022.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(1924-1926)Ggg>Agg		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						108.0	86.0	93.0					3																	185906162		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185906162C>T	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1924G>A	3.37:g.185906162C>T	ENSP00000265022:p.Gly642Arg		Somatic				DGKG_ENST00000344484.4_Missense_Mutation_p.G617R|DGKG_ENST00000382164.4_Missense_Mutation_p.G603R|DGKG_ENST00000544847.1_Missense_Mutation_p.G583R	p.G642R	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	WXS	Illumina GAIIx	Phase_I	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	22	2463	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		642					B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.1924G>A	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.510935	0.85389	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847	T;T;T;T	0.55588	0.52;0.51;0.52;0.52	4.44	4.44	0.53790	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.81555	0.4847	H	0.96943	3.91	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.996;0.998;0.999	D	0.88317	0.2960	10	0.87932	D	0	.	16.0055	0.80359	0.0:1.0:0.0:0.0	.	583;617;603;642	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	R	642;617;603;583	ENSP00000265022:G642R;ENSP00000339777:G617R;ENSP00000371599:G603R;ENSP00000440507:G583R	ENSP00000265022:G642R	G	-	1	0	DGKG	187388856	1.000000	0.71417	0.882000	0.34594	0.955000	0.61496	7.408000	0.80041	2.307000	0.77673	0.313000	0.20887	GGG		0.527	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			5	501	0	0	0	1	0	5	501				
CCDC60	160777	broad.mit.edu	37	12	119909965	119909965	+	Silent	SNP	T	T	C	rs139079166	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr12:119909965T>C	ENST00000327554.2	+	3	802	c.337T>C	c.(337-339)Ttg>Ctg	p.L113L	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	113										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGACACCTTATTGAGGTAAGT	0.458																																						ENST00000327554.2																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(337-339)Ttg>Ctg		coiled-coil domain containing 60		T		6,4400	11.4+/-27.6	0,6,2197	172.0	177.0	175.0		337	-6.1	0.0	12	dbSNP_134	175	0,8600		0,0,4300	no	coding-synonymous	CCDC60	NM_178499.3		0,6,6497	CC,CT,TT		0.0,0.1362,0.0461		113/551	119909965	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	160777							g.chr12:119909965T>C	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.337T>C	12.37:g.119909965T>C			Somatic				CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	p.L113L	NM_178499.3	NP_848594.2	WXS	Illumina GAIIx	Phase_I	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	3	802	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		113						Silent	SNP	ENST00000327554.2	37	c.337T>C	CCDS9190.1																																																																																				0.458	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		168	552	0	0	0	1	0	168	552				
ADH6	130	broad.mit.edu	37	4	100137322	100137322	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr4:100137322A>T	ENST00000237653.7	-	2	500	c.116T>A	c.(115-117)aTa>aAa	p.I39K	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_5'UTR|ADH6_ENST00000394897.1_Missense_Mutation_p.I39K|ADH6_ENST00000394899.2_Missense_Mutation_p.I39K|RP11-696N14.1_ENST00000506454.1_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	39					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	ttttACCTTTATGCGAACTTC	0.393																																						ENST00000394897.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20						c.(115-117)aTa>aAa		alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)|NADH(DB00157)						47.0	50.0	49.0					4																	100137322		2203	4300	6503	SO:0001583	missense	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100137322A>T	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.116T>A	4.37:g.100137322A>T	ENSP00000237653:p.Ile39Lys		Somatic				RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_5'UTR|ADH6_ENST00000394899.2_Missense_Mutation_p.I39K|ADH6_ENST00000237653.7_Missense_Mutation_p.I39K	p.I39K			WXS	Illumina GAIIx	Phase_I	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	2	198	-			39					B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	c.116T>A	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.166985	0.57476	.	.	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000237653;ENST00000508558	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	3.43	3.43	0.39272	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.051702	0.85682	D	0.000000	T	0.43188	0.1236	H	0.95043	3.615	0.80722	D	1	P;P;P	0.48089	0.905;0.774;0.875	D;P;P	0.70016	0.967;0.771;0.813	T	0.56613	-0.7950	10	0.87932	D	0	-11.0733	11.9069	0.52717	1.0:0.0:0.0:0.0	.	39;39;39	E9PBI1;P28332;P28332-2	.;ADH6_HUMAN;.	K	39	ENSP00000378358:I39K;ENSP00000378359:I39K;ENSP00000237653:I39K;ENSP00000426187:I39K	ENSP00000237653:I39K	I	-	2	0	ADH6	100356345	0.847000	0.29606	0.061000	0.19648	0.481000	0.33189	7.692000	0.84203	1.328000	0.45358	0.165000	0.16767	ATA		0.393	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		4	74	0	0	0	1	0	4	74				
RPE65	6121	broad.mit.edu	37	1	68906539	68906539	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:68906539C>A	ENST00000262340.5	-	6	693	c.640G>T	c.(640-642)Gca>Tca	p.A214S		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	214					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AACTCACCTGCTTGCAGTGGT	0.348																																						ENST00000262340.5																			0				central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						c.(640-642)Gca>Tca		retinal pigment epithelium-specific protein 65kDa							84.0	87.0	86.0					1																	68906539		2203	4300	6503	SO:0001583	missense	6121				visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	g.chr1:68906539C>A	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.640G>T	1.37:g.68906539C>A	ENSP00000262340:p.Ala214Ser		Somatic					p.A214S	NM_000329.2	NP_000320.1	WXS	Illumina GAIIx	Phase_I	Q16518	RPE65_HUMAN			6	693	-			214					A8K1L0|Q5T9U3	Missense_Mutation	SNP	ENST00000262340.5	37	c.640G>T	CCDS643.1	.	.	.	.	.	.	.	.	.	.	C	8.879	0.951215	0.18431	.	.	ENSG00000116745	ENST00000262340	D	0.95342	-3.68	4.71	4.71	0.59529	.	0.097154	0.64402	D	0.000001	D	0.86306	0.5901	L	0.39898	1.24	0.43835	D	0.996417	B	0.02656	0.0	B	0.04013	0.001	T	0.83281	-0.0038	10	0.09084	T	0.74	.	18.5396	0.91023	0.0:1.0:0.0:0.0	.	214	Q16518	RPE65_HUMAN	S	214	ENSP00000262340:A214S	ENSP00000262340:A214S	A	-	1	0	RPE65	68679127	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.868000	0.39509	2.542000	0.85734	0.591000	0.81541	GCA		0.348	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329		21	116	1	0	2.27525e-19	1	2.48328e-19	21	116				
EFCC1	79825	broad.mit.edu	37	3	128757716	128757716	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:128757716C>T	ENST00000480450.1	+	7	1633	c.1633C>T	c.(1633-1635)Ctg>Ttg	p.L545L	EFCC1_ENST00000436022.2_Silent_p.L108L			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	545							calcium ion binding (GO:0005509)										GCTGAGCACGCTGGACGCTTT	0.547																																						ENST00000436022.2																			0											c.(322-324)Ctg>Ttg		EF-hand and coiled-coil domain containing 1							87.0	93.0	91.0					3																	128757716		2203	4300	6503	SO:0001819	synonymous_variant	79825							g.chr3:128757716C>T	AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"""EF-hand domain containing"""	25692	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 73"", ""coiled-coil domain containing 48"""	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1633C>T	3.37:g.128757716C>T			Somatic				EFCC1_ENST00000480450.1_Silent_p.L545L	p.L108L	NM_024768.2	NP_079044.2	WXS	Illumina GAIIx	Phase_I					7	1633	+								A8MYE2	Silent	SNP	ENST00000480450.1	37	c.322C>T	CCDS3054.2																																																																																				0.547	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352832.1	NM_024768		19	88	0	0	0	1	0	19	88				
TRPC5	7224	broad.mit.edu	37	X	111020091	111020091	+	Missense_Mutation	SNP	C	C	T	rs374332395		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chrX:111020091C>T	ENST00000262839.2	-	11	3290	c.2372G>A	c.(2371-2373)cGg>cAg	p.R791Q		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	791					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGATTTGGCCCGAGCCCCACC	0.483																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2371-2373)cGg>cAg		transient receptor potential cation channel, subfamily C, member 5		C	GLN/ARG	1,3834		0,1,1631,571	131.0	137.0	135.0		2372	4.7	1.0	X		135	0,6728		0,0,2428,1872	no	missense	TRPC5	NM_012471.2	43	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	benign	791/974	111020091	1,10562	2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111020091C>T	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2372G>A	X.37:g.111020091C>T	ENSP00000262839:p.Arg791Gln		Somatic					p.R791Q	NM_012471.2	NP_036603.1	WXS	Illumina GAIIx	Phase_I	Q9UL62	TRPC5_HUMAN			11	3290	-			791					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.2372G>A	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250780	0.39797	2.61E-4	0.0	ENSG00000072315	ENST00000262839	T	0.70516	-0.49	5.71	4.67	0.58626	.	0.436235	0.22314	N	0.061684	T	0.49592	0.1566	N	0.14661	0.345	0.32495	N	0.539638	B	0.14805	0.011	B	0.08055	0.003	T	0.53194	-0.8473	10	0.32370	T	0.25	-14.6117	7.5944	0.28039	0.0:0.6952:0.1677:0.1371	.	791	Q9UL62	TRPC5_HUMAN	Q	791	ENSP00000262839:R791Q	ENSP00000262839:R791Q	R	-	2	0	TRPC5	110906747	0.925000	0.31364	1.000000	0.80357	0.990000	0.78478	1.233000	0.32648	2.404000	0.81709	0.600000	0.82982	CGG		0.483	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		4	601	0	0	0	1	0	4	601				
SLITRK4	139065	broad.mit.edu	37	X	142718022	142718022	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chrX:142718022A>T	ENST00000381779.4	-	2	1128	c.903T>A	c.(901-903)acT>acA	p.T301T	SLITRK4_ENST00000356928.1_Silent_p.T301T|SLITRK4_ENST00000338017.4_Silent_p.T301T	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	301						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGTGGTTTAGTTACTAATC	0.453																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(901-903)acT>acA		SLIT and NTRK-like family, member 4							171.0	150.0	157.0					X																	142718022		2203	4300	6503	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142718022A>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.903T>A	X.37:g.142718022A>T			Somatic				SLITRK4_ENST00000356928.1_Silent_p.T301T|SLITRK4_ENST00000338017.4_Silent_p.T301T	p.T301T	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	WXS	Illumina GAIIx	Phase_I	Q8IW52	SLIK4_HUMAN			2	1128	-	Acute lymphoblastic leukemia(192;6.56e-05)		301					Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.903T>A	CCDS14679.1																																																																																				0.453	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		6	321	0	0	0	1	0	6	321				
MFAP5	8076	broad.mit.edu	37	12	8802129	8802129	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr12:8802129C>T	ENST00000359478.2	-	9	564	c.377G>A	c.(376-378)cGt>cAt	p.R126H	MFAP5_ENST00000396549.2_Missense_Mutation_p.R116H|MFAP5_ENST00000433590.2_Missense_Mutation_p.R101H|MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000538107.1_5'Flank|MFAP5_ENST00000543369.1_Missense_Mutation_p.R104H|MFAP5_ENST00000540087.1_Missense_Mutation_p.R116H	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	126					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					ACAGACAAGACGAGAGCAGAT	0.443																																						ENST00000359478.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13						c.(376-378)cGt>cAt		microfibrillar associated protein 5							296.0	227.0	250.0					12																	8802129		2203	4300	6503	SO:0001583	missense	8076					microfibril	extracellular matrix structural constituent	g.chr12:8802129C>T	AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.377G>A	12.37:g.8802129C>T	ENSP00000352455:p.Arg126His		Somatic				MFAP5_ENST00000543369.1_Missense_Mutation_p.R104H|MFAP5_ENST00000433590.2_Missense_Mutation_p.R101H|MFAP5_ENST00000540087.1_Missense_Mutation_p.R116H|MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000396549.2_Missense_Mutation_p.R116H	p.R126H	NM_003480.2	NP_003471.1	WXS	Illumina GAIIx	Phase_I	Q13361	MFAP5_HUMAN			9	564	-	Lung SC(5;0.184)		126					B0AZL6|D3DUV1|Q7Z490	Missense_Mutation	SNP	ENST00000359478.2	37	c.377G>A	CCDS8595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.712297|4.712297	0.89112|0.89112	.|.	.|.	ENSG00000197614|ENSG00000197614	ENST00000543467;ENST00000359478;ENST00000433590;ENST00000396549;ENST00000543369;ENST00000540087|ENST00000535411	.|.	.|.	.|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72542|0.72542	0.3473|0.3473	M|M	0.72894|0.72894	2.215|2.215	0.39907|0.39907	D|D	0.973972|0.973972	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.999|.	T|T	0.73777|0.73777	-0.3876|-0.3876	9|5	0.87932|.	D|.	0|.	-17.56|-17.56	13.7701|13.7701	0.63019|0.63019	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	101;126;116|.	B3KW70;Q13361;Q7Z490|.	.;MFAP5_HUMAN;.|.	H|I	32;126;101;116;104;116|116	.|.	ENSP00000352455:R126H|.	R|V	-|-	2|1	0|0	MFAP5|MFAP5	8693396|8693396	0.997000|0.997000	0.39634|0.39634	0.986000|0.986000	0.45419|0.45419	0.990000|0.990000	0.78478|0.78478	3.794000|3.794000	0.55492|0.55492	2.614000|2.614000	0.88457|0.88457	0.563000|0.563000	0.77884|0.77884	CGT|GTC		0.443	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2	NM_003480		88	397	0	0	0	1	0	88	397				
RIMBP3	85376	broad.mit.edu	37	22	20458407	20458407	+	Silent	SNP	C	C	T	rs535277568		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr22:20458407C>T	ENST00000426804.1	-	1	3379	c.2895G>A	c.(2893-2895)acG>acA	p.T965T	RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	965										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GGCAGGCTTCCGTCTTGGTAT	0.607													c|||	1	0.000199681	0.0	0.0	5008	,	,		24804	0.0		0.0	False		,,,				2504	0.001					ENST00000426804.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(2893-2895)acG>acA		RIMS binding protein 3							1.0	1.0	1.0					22																	20458407		664	1803	2467	SO:0001819	synonymous_variant	85376							g.chr22:20458407C>T	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.2895G>A	22.37:g.20458407C>T			Somatic					p.T965T	NM_015672.1	NP_056487.1	WXS	Illumina GAIIx	Phase_I			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	3379	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Silent	SNP	ENST00000426804.1	37	c.2895G>A	CCDS46665.1																																																																																				0.607	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		11	59	0	0	0	1	0	11	59				
TGIF1	7050	broad.mit.edu	37	18	3457635	3457635	+	Silent	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr18:3457635G>T	ENST00000330513.5	+	3	1206	c.903G>T	c.(901-903)gtG>gtT	p.V301V	TGIF1_ENST00000407501.2_Silent_p.V172V|TGIF1_ENST00000472042.1_Silent_p.V152V|TGIF1_ENST00000548489.2_Silent_p.V186V|TGIF1_ENST00000343820.5_Silent_p.V172V|TGIF1_ENST00000345133.5_Silent_p.V152V|TGIF1_ENST00000551541.1_Silent_p.V152V|TGIF1_ENST00000400167.2_Silent_p.V152V|TGIF1_ENST00000401449.1_Silent_p.V152V|TGIF1_ENST00000405385.3_Silent_p.V152V	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	301					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GTCCATCAGTGATCTGCCATA	0.537																																						ENST00000472042.1																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(454-456)gtG>gtT		TGFB-induced factor homeobox 1							71.0	62.0	65.0					18																	3457635		2203	4300	6503	SO:0001819	synonymous_variant	7050				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr18:3457635G>T	X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"""Homeoboxes / TALE class"""	11776	protein-coding gene	gene with protein product		602630	"""TGFB-induced factor (TALE family homeobox)"""	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.903G>T	18.37:g.3457635G>T			Somatic				TGIF1_ENST00000401449.1_Silent_p.V152V|TGIF1_ENST00000400167.2_Silent_p.V152V|TGIF1_ENST00000345133.5_Silent_p.V152V|TGIF1_ENST00000343820.5_Silent_p.V172V|TGIF1_ENST00000548489.2_Silent_p.V186V|TGIF1_ENST00000407501.2_Silent_p.V172V|TGIF1_ENST00000405385.3_Silent_p.V152V|TGIF1_ENST00000330513.5_Silent_p.V301V|TGIF1_ENST00000551541.1_Silent_p.V152V	p.V152V			WXS	Illumina GAIIx	Phase_I	Q15583	TGIF1_HUMAN			2	1440	+	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)	301					A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Silent	SNP	ENST00000330513.5	37	c.456G>T	CCDS11834.1																																																																																				0.537	TGIF1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254368.4	NM_170695		9	87	1	0	1.58986e-06	1	1.68702e-06	9	87				
TM6SF1	53346	broad.mit.edu	37	15	83784595	83784595	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr15:83784595A>T	ENST00000322019.9	+	3	470		c.e3-1		RP11-382A20.2_ENST00000565513.1_RNA|TM6SF1_ENST00000564988.1_Splice_Site|TM6SF1_ENST00000379386.4_Splice_Site|TM6SF1_ENST00000565774.1_Splice_Site|TM6SF1_ENST00000379390.6_Splice_Site			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1							integral component of membrane (GO:0016021)				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TCTTTGCTCTAGTGTATGCAG	0.403																																						ENST00000322019.9																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.e3-1		transmembrane 6 superfamily member 1							152.0	129.0	136.0					15																	83784595		2203	4300	6503	SO:0001630	splice_region_variant	53346					integral to membrane		g.chr15:83784595A>T	AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.197-1A>T	15.37:g.83784595A>T			Somatic				TM6SF1_ENST00000379390.6_Splice_Site|TM6SF1_ENST00000565774.1_Splice_Site|TM6SF1_ENST00000564988.1_Splice_Site|TM6SF1_ENST00000379386.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9BZW5	TM6S1_HUMAN			3	470	+								A8K7T5|H3BU56|Q4U0U5	Splice_Site	SNP	ENST00000322019.9	37		CCDS10323.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.086350	0.76642	.	.	ENSG00000136404	ENST00000322019;ENST00000379386;ENST00000379384;ENST00000379390;ENST00000258909	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6194	0.56595	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TM6SF1	81575599	1.000000	0.71417	0.875000	0.34327	0.997000	0.91878	8.031000	0.88826	1.872000	0.54250	0.459000	0.35465	.		0.403	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1	NM_023003	Intron	5	149	0	0	0	1	0	5	149				
TXNDC11	51061	broad.mit.edu	37	16	11773280	11773280	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr16:11773280G>T	ENST00000356957.3	-	13	2836	c.2729C>A	c.(2728-2730)gCc>gAc	p.A910D	TXNDC11_ENST00000283033.5_Missense_Mutation_p.A883D|TXNDC11_ENST00000570917.1_5'UTR			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	910					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GTTTTCTGAGGCATCGGCCAG	0.617																																						ENST00000356957.3																			0				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(2728-2730)gCc>gAc		thioredoxin domain containing 11							60.0	59.0	60.0					16																	11773280		2197	4300	6497	SO:0001583	missense	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11773280G>T	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.2729C>A	16.37:g.11773280G>T	ENSP00000349439:p.Ala910Asp		Somatic				TXNDC11_ENST00000570917.1_5'UTR|TXNDC11_ENST00000283033.5_Missense_Mutation_p.A883D	p.A910D			WXS	Illumina GAIIx	Phase_I	Q6PKC3	TXD11_HUMAN			13	2836	-			910					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	37	c.2729C>A		.	.	.	.	.	.	.	.	.	.	G	16.51	3.144487	0.57044	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.17691	2.48;2.26	5.63	4.66	0.58398	.	0.053534	0.85682	D	0.000000	T	0.40932	0.1137	M	0.69823	2.125	0.51233	D	0.999915	D;D	0.89917	1.0;1.0	D;D	0.76575	0.973;0.988	T	0.28004	-1.0057	10	0.49607	T	0.09	-16.0879	14.8798	0.70522	0.0:0.0:0.8557:0.1443	.	910;883	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	D	910;883	ENSP00000349439:A910D;ENSP00000283033:A883D	ENSP00000283033:A883D	A	-	2	0	TXNDC11	11680781	1.000000	0.71417	0.971000	0.41717	0.103000	0.19146	5.822000	0.69265	1.339000	0.45563	0.655000	0.94253	GCC		0.617	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		74	166	1	0	4.35598e-54	1	4.8092e-54	74	166				
UBXN10	127733	broad.mit.edu	37	1	20517654	20517654	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:20517654G>A	ENST00000375099.3	+	2	684	c.600G>A	c.(598-600)ctG>ctA	p.L200L		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	200	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CAAGGTTGCTGCTTGCTGTTA	0.493																																						ENST00000375099.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						c.(598-600)ctG>ctA		UBX domain protein 10							125.0	120.0	122.0					1																	20517654		2203	4300	6503	SO:0001819	synonymous_variant	127733							g.chr1:20517654G>A	AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"""UBX domain containing"""	26354	protein-coding gene	gene with protein product			"""UBX domain containing 3"""	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.600G>A	1.37:g.20517654G>A			Somatic					p.L200L	NM_152376.3	NP_689589.1	WXS	Illumina GAIIx	Phase_I	Q96LJ8	UBX10_HUMAN			2	684	+			200			UBX.		Q5R386	Silent	SNP	ENST00000375099.3	37	c.600G>A	CCDS205.1																																																																																				0.493	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007693.1	NM_152376		5	397	0	0	0	1	0	5	397				
NOS1	4842	broad.mit.edu	37	12	117672374	117672374	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr12:117672374A>T	ENST00000338101.4	-	21	3337	c.3333T>A	c.(3331-3333)gcT>gcA	p.A1111A	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.A1077A			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TGTTACCTAAAGCCGTGTTCC	0.587																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3229-3231)gcT>gcA		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						48.0	50.0	50.0					12																	117672374		2004	4176	6180	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117672374A>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3333T>A	12.37:g.117672374A>T			Somatic				NOS1_ENST00000338101.4_Silent_p.A1111A|NOS1_ENST00000344089.3_3'UTR	p.A1077A	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	WXS	Illumina GAIIx	Phase_I	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	21	3916	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1077			FAD-binding FR-type.			Silent	SNP	ENST00000338101.4	37	c.3231T>A	CCDS55890.1																																																																																				0.587	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			35	113	0	0	0	1	0	35	113				
INTS7	25896	broad.mit.edu	37	1	212180017	212180017	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:212180017A>T	ENST00000366994.3	-	7	947	c.843T>A	c.(841-843)aaT>aaA	p.N281K	INTS7_ENST00000366993.3_Missense_Mutation_p.N281K|INTS7_ENST00000366992.3_Missense_Mutation_p.N281K|INTS7_ENST00000440600.2_Missense_Mutation_p.N232K|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	281					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GTGGTGTTTTATTAGCAAGTA	0.294																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(841-843)aaT>aaA		integrator complex subunit 7							112.0	113.0	112.0					1																	212180017		2203	4300	6503	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212180017A>T	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.843T>A	1.37:g.212180017A>T	ENSP00000355961:p.Asn281Lys		Somatic				INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.N281K|INTS7_ENST00000440600.2_Missense_Mutation_p.N232K|INTS7_ENST00000366993.3_Missense_Mutation_p.N281K	p.N281K	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	WXS	Illumina GAIIx	Phase_I	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	7	947	-			281					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.843T>A	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	A	0.056	-1.236096	0.01505	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.5	3.18	0.36537	Armadillo-like helical (1);Armadillo-type fold (1);	0.270596	0.46758	D	0.000280	T	0.08268	0.0206	N	0.04880	-0.145	0.32488	N	0.54058	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.34825	-0.9813	10	0.02654	T	1	-5.7751	10.7513	0.46211	0.7996:0.0:0.2004:0.0	.	232;281;281;281	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	K	281;281;281;232	ENSP00000355961:N281K;ENSP00000355960:N281K;ENSP00000355959:N281K;ENSP00000388908:N232K	ENSP00000355959:N281K	N	-	3	2	INTS7	210246640	1.000000	0.71417	0.705000	0.30386	0.429000	0.31625	1.282000	0.33226	0.451000	0.26802	-1.431000	0.01090	AAT		0.294	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		4	89	0	0	0	1	0	4	89				
GRIK1	2897	broad.mit.edu	37	21	30961307	30961307	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr21:30961307C>T	ENST00000399907.1	-	11	1832	c.1421G>A	c.(1420-1422)aGa>aAa	p.R474K	GRIK1_ENST00000399909.1_Missense_Mutation_p.R459K|GRIK1_ENST00000309434.7_Missense_Mutation_p.R476K|GRIK1_ENST00000389124.2_Missense_Mutation_p.R474K|GRIK1_ENST00000399914.1_Missense_Mutation_p.R459K|GRIK1_ENST00000535441.1_Missense_Mutation_p.R476K|GRIK1_ENST00000399913.1_Missense_Mutation_p.R474K|GRIK1_ENST00000327783.4_Missense_Mutation_p.R474K|GRIK1_ENST00000389125.3_Missense_Mutation_p.R459K	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	474					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TCCTTCAAATCTGTCATTTCC	0.368																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(1375-1377)aGa>aAa		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						122.0	122.0	122.0					21																	30961307		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30961307C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1421G>A	21.37:g.30961307C>T	ENSP00000382791:p.Arg474Lys		Somatic				GRIK1_ENST00000399907.1_Missense_Mutation_p.R474K|GRIK1_ENST00000389124.2_Missense_Mutation_p.R474K|GRIK1_ENST00000327783.4_Missense_Mutation_p.R474K|GRIK1_ENST00000389125.3_Missense_Mutation_p.R459K|GRIK1_ENST00000399909.1_Missense_Mutation_p.R459K|GRIK1_ENST00000309434.7_Missense_Mutation_p.R476K|GRIK1_ENST00000399913.1_Missense_Mutation_p.R474K|GRIK1_ENST00000535441.1_Missense_Mutation_p.R476K	p.R459K			WXS	Illumina GAIIx	Phase_I	P39086	GRIK1_HUMAN			10	1897	-			474					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.1376G>A	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578970	0.86645	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.1	5.1	0.69264	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.81837	0.4907	L	0.46819	1.47	0.58432	D	0.999998	P;P;P;P	0.38677	0.642;0.473;0.642;0.589	P;P;P;B	0.51055	0.466;0.657;0.466;0.336	T	0.79607	-0.1733	10	0.39692	T	0.17	.	18.654	0.91441	0.0:1.0:0.0:0.0	.	474;459;474;459	E9PD61;E7EPZ0;P39086;P39086-2	.;.;GRIK1_HUMAN;.	K	474;459;474;459;476;474;474;459;476	ENSP00000327687:R474K;ENSP00000373777:R459K;ENSP00000382797:R474K;ENSP00000382798:R459K;ENSP00000446326:R476K;ENSP00000373776:R474K;ENSP00000382791:R474K;ENSP00000382793:R459K;ENSP00000311646:R476K	ENSP00000311646:R476K	R	-	2	0	GRIK1	29883178	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.886000	0.69743	2.794000	0.96219	0.650000	0.86243	AGA		0.368	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			27	122	0	0	0	1	0	27	122				
OR4P4	81300	broad.mit.edu	37	11	55405931	55405931	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr11:55405931A>T	ENST00000314612.2	+	1	98	c.98A>T	c.(97-99)tAc>tTc	p.Y33F		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTGTTTTGCTACATTGCTATT	0.363																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(97-99)tAc>tTc		olfactory receptor, family 4, subfamily P, member 4							136.0	123.0	128.0					11																	55405931		2182	4024	6206	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55405931A>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.98A>T	11.37:g.55405931A>T	ENSP00000324831:p.Tyr33Phe		Somatic					p.Y33F	NM_001004124.1	NP_001004124.1	WXS	Illumina GAIIx	Phase_I	Q8NGL7	OR4P4_HUMAN			1	98	+			33						Missense_Mutation	SNP	ENST00000314612.2	37	c.98A>T	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.156677	0.38119	.	.	ENSG00000181927	ENST00000314612	T	0.04406	3.63	5.02	5.02	0.67125	.	0.000000	0.37178	N	0.002207	T	0.09158	0.0226	L	0.55213	1.73	0.22292	N	0.99923	P	0.43024	0.798	P	0.44518	0.452	T	0.06881	-1.0802	10	0.72032	D	0.01	-4.5347	13.7294	0.62779	1.0:0.0:0.0:0.0	.	33	Q8NGL7	OR4P4_HUMAN	F	33	ENSP00000324831:Y33F	ENSP00000324831:Y33F	Y	+	2	0	OR4P4	55162507	0.966000	0.33281	0.028000	0.17463	0.169000	0.22640	2.690000	0.47001	1.908000	0.55244	0.509000	0.49947	TAC		0.363	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		5	215	0	0	0	1	0	5	215				
TCP1	6950	broad.mit.edu	37	6	160206440	160206440	+	Missense_Mutation	SNP	T	T	C	rs376262511		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr6:160206440T>C	ENST00000321394.7	-	5	746	c.466A>G	c.(466-468)Atg>Gtg	p.M156V	SNORA29_ENST00000384183.1_RNA|TCP1_ENST00000420894.2_Missense_Mutation_p.M156V|TCP1_ENST00000392168.2_Start_Codon_SNP_p.M1V|TCP1_ENST00000544255.1_Intron	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	156					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TTGGAAGACATGGATGTCTTA	0.373																																						ENST00000321394.7																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10						c.(466-468)Atg>Gtg		t-complex 1		T	VAL/MET,VAL/MET	0,4406		0,0,2203	189.0	165.0	173.0		1,466	5.9	0.1	6		173	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TCP1	NM_001008897.1,NM_030752.2	21,21	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	1/402,156/557	160206440	1,13005	2203	4300	6503	SO:0001583	missense	6950				'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding	g.chr6:160206440T>C	X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.466A>G	6.37:g.160206440T>C	ENSP00000317334:p.Met156Val		Somatic				TCP1_ENST00000392168.2_Start_Codon_SNP_p.M1V|TCP1_ENST00000420894.2_Missense_Mutation_p.M156V|TCP1_ENST00000544255.1_Intron	p.M156V	NM_030752.2	NP_110379.2	WXS	Illumina GAIIx	Phase_I	P17987	TCPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	5	746	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	156					E1P5B2|Q15556|Q5TCM3	Missense_Mutation	SNP	ENST00000321394.7	37	c.466A>G	CCDS5269.1	.	.	.	.	.	.	.	.	.	.	T	16.44	3.124825	0.56613	0.0	1.16E-4	ENSG00000120438	ENST00000321394;ENST00000420894;ENST00000392168;ENST00000538128;ENST00000539948	T;T;T;D;T	0.87256	2.55;2.55;2.55;-2.23;-1.12	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.85716	0.5761	M	0.87038	2.855	0.80722	D	1	B;B	0.24258	0.032;0.1	B;B	0.29785	0.041;0.107	D	0.86268	0.1659	10	0.87932	D	0	-37.6405	12.3641	0.55219	0.0:0.0672:0.0:0.9328	.	156;156	E7ERF2;P17987	.;TCPA_HUMAN	V	156;156;1;36;134	ENSP00000317334:M156V;ENSP00000390159:M156V;ENSP00000376008:M1V;ENSP00000442185:M36V;ENSP00000439671:M134V	ENSP00000317334:M156V	M	-	1	0	TCP1	160126430	1.000000	0.71417	0.090000	0.20809	0.929000	0.56500	7.492000	0.81482	2.371000	0.80710	0.533000	0.62120	ATG		0.373	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752		4	236	0	0	0	1	0	4	236				
ALS2CR11	151254	broad.mit.edu	37	2	202401045	202401045	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:202401045T>A	ENST00000286195.3	-	13	1251		c.e13-2		ALS2CR11_ENST00000439140.1_Splice_Site|ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000450242.1_Splice_Site	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11											NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						ATCCAGTAACTAGAAAATACA	0.313																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.e13-2		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							80.0	77.0	78.0					2																	202401045		2201	4299	6500	SO:0001630	splice_region_variant	151254							g.chr2:202401045T>A	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1207-2A>T	2.37:g.202401045T>A			Somatic				ALS2CR11_ENST00000286195.3_Splice_Site|ALS2CR11_ENST00000450242.1_Splice_Site|ALS2CR11_ENST00000439802.1_Intron		NM_001168221.1	NP_001161693.1	WXS	Illumina GAIIx	Phase_I	Q53TS8	AL2SA_HUMAN			13	1251	-								C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Splice_Site	SNP	ENST00000286195.3	37		CCDS2349.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533547	0.45073	.	.	ENSG00000155754	ENST00000286195;ENST00000439140;ENST00000450242	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9723	0.47446	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ALS2CR11	202109290	0.991000	0.36638	0.995000	0.50966	0.506000	0.33950	3.251000	0.51453	2.155000	0.67459	0.533000	0.62120	.		0.313	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525	Intron	4	81	0	0	0	1	0	4	81				
NLRP7	199713	broad.mit.edu	37	19	55451743	55451743	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr19:55451743G>A	ENST00000590030.1	-	3	484	c.444C>T	c.(442-444)gaC>gaT	p.D148D	NLRP7_ENST00000592784.1_Silent_p.D148D|NLRP7_ENST00000448121.2_Silent_p.D148D|NLRP7_ENST00000340844.2_Silent_p.D148D|NLRP7_ENST00000328092.5_Silent_p.D148D|NLRP7_ENST00000588756.1_Silent_p.D148D|NLRP7_ENST00000446217.1_Silent_p.D176D			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	148							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GAGTGACGTCGTCATGGAAAT	0.493																																						ENST00000588756.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(442-444)gaC>gaT		NLR family, pyrin domain containing 7							252.0	270.0	264.0					19																	55451743		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55451743G>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.444C>T	19.37:g.55451743G>A			Somatic				NLRP7_ENST00000340844.2_Silent_p.D148D|NLRP7_ENST00000328092.5_Silent_p.D148D|NLRP7_ENST00000592784.1_Silent_p.D148D|NLRP7_ENST00000448121.2_Silent_p.D148D|NLRP7_ENST00000446217.1_Silent_p.D176D|NLRP7_ENST00000590030.1_Silent_p.D148D	p.D148D			WXS	Illumina GAIIx	Phase_I	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	930	-			148					E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.444C>T	CCDS33109.1																																																																																				0.493	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		368	645	0	0	0	1	0	368	645				
NLRP4	147945	broad.mit.edu	37	19	56369938	56369938	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr19:56369938G>A	ENST00000301295.6	+	3	1601	c.1179G>A	c.(1177-1179)caG>caA	p.Q393Q	NLRP4_ENST00000346986.5_Silent_p.Q393Q|NLRP4_ENST00000587891.1_Silent_p.Q318Q	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	393	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CGCAAACCCAGCACCAGCTGA	0.572																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(1177-1179)caG>caA		NLR family, pyrin domain containing 4							65.0	65.0	65.0					19																	56369938		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56369938G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1179G>A	19.37:g.56369938G>A			Somatic				NLRP4_ENST00000346986.5_Silent_p.Q393Q|NLRP4_ENST00000587891.1_Silent_p.Q318Q	p.Q393Q	NM_134444.4	NP_604393.2	WXS	Illumina GAIIx	Phase_I	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1601	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	393			NACHT.		Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.1179G>A	CCDS12936.1																																																																																				0.572	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		3	91	0	0	0	1	0	3	91				
IPMK	253430	broad.mit.edu	37	10	59955942	59955942	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr10:59955942T>C	ENST00000373935.3	-	6	1468	c.1146A>G	c.(1144-1146)cgA>cgG	p.R382R		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	382					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						AATCTATCATTCGCACTTCTA	0.373																																						ENST00000373935.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						c.(1144-1146)cgA>cgG		inositol polyphosphate multikinase							130.0	125.0	127.0					10																	59955942		2203	4300	6503	SO:0001819	synonymous_variant	253430					nucleus	ATP binding|inositol trisphosphate 6-kinase activity	g.chr10:59955942T>C	AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.1146A>G	10.37:g.59955942T>C			Somatic					p.R382R	NM_152230.4	NP_689416.1	WXS	Illumina GAIIx	Phase_I	Q8NFU5	IPMK_HUMAN			6	1468	-			382						Silent	SNP	ENST00000373935.3	37	c.1146A>G	CCDS7250.1																																																																																				0.373	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		3	271	0	0	0	1	0	3	271				
AKAP13	11214	broad.mit.edu	37	15	86124683	86124683	+	Silent	SNP	C	C	T	rs200852061	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr15:86124683C>T	ENST00000394518.2	+	7	3479	c.3384C>T	c.(3382-3384)gcC>gcT	p.A1128A	AKAP13_ENST00000361243.2_Silent_p.A1128A|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1128					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGAAGAATGCCGTTCTAGGTT	0.488													C|||	2	0.000399361	0.0	0.0029	5008	,	,		23944	0.0		0.0	False		,,,				2504	0.0				Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(3382-3384)gcC>gcT		A kinase (PRKA) anchor protein 13							92.0	85.0	87.0					15																	86124683		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86124683C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.3384C>T	15.37:g.86124683C>T			Somatic				AKAP13_ENST00000361243.2_Silent_p.A1128A	p.A1128A	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	WXS	Illumina GAIIx	Phase_I	Q12802	AKP13_HUMAN			7	3479	+			1128					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.3384C>T	CCDS32319.1																																																																																				0.488	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		25	179	0	0	0	1	0	25	179				
FAM47B	170062	broad.mit.edu	37	X	34962088	34962088	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chrX:34962088C>T	ENST00000329357.5	+	1	1176	c.1140C>T	c.(1138-1140)taC>taT	p.Y380Y		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	380										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CTGGTAAATACCATTTTTGGG	0.552																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1138-1140)taC>taT		family with sequence similarity 47, member B							45.0	43.0	43.0					X																	34962088		2202	4300	6502	SO:0001819	synonymous_variant	170062							g.chrX:34962088C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1140C>T	X.37:g.34962088C>T			Somatic					p.Y380Y	NM_152631.2	NP_689844.2	WXS	Illumina GAIIx	Phase_I	Q8NA70	FA47B_HUMAN			1	1176	+			380					Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	c.1140C>T	CCDS14236.1																																																																																				0.552	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		23	80	0	0	0	1	0	23	80				
TRMT12	55039	broad.mit.edu	37	8	125463208	125463208	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:125463208A>T	ENST00000328599.3	+	1	161	c.40A>T	c.(40-42)Agt>Tgt	p.S14C	TRMT12_ENST00000521443.1_3'UTR	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	14					tRNA processing (GO:0008033)		transferase activity (GO:0016740)			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGAGAGAGAAAGTGGGAAGCC	0.502																																						ENST00000328599.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(40-42)Agt>Tgt		tRNA methyltransferase 12 homolog (S. cerevisiae)							144.0	151.0	149.0					8																	125463208		2203	4300	6503	SO:0001583	missense	55039				tRNA processing		methyltransferase activity	g.chr8:125463208A>T	AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 2"""	611244	"""tRNA methyltranferase 12 homolog (S. cerevisiae)"""			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.40A>T	8.37:g.125463208A>T	ENSP00000329858:p.Ser14Cys		Somatic				TRMT12_ENST00000521443.1_3'UTR	p.S14C	NM_017956.3	NP_060426.2	WXS	Illumina GAIIx	Phase_I	Q53H54	TYW2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	161	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		14					Q6PKB9|Q96F21|Q9NWK6	Missense_Mutation	SNP	ENST00000328599.3	37	c.40A>T	CCDS6349.1	.	.	.	.	.	.	.	.	.	.	A	3.145	-0.175555	0.06421	.	.	ENSG00000183665	ENST00000328599	T	0.45668	0.89	5.15	1.14	0.20703	.	0.999453	0.08093	N	0.998995	T	0.17023	0.0409	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19778	-1.0295	10	0.48119	T	0.1	-0.0085	4.532	0.12010	0.2483:0.0:0.5879:0.1639	.	14	Q53H54	TYW2_HUMAN	C	14	ENSP00000329858:S14C	ENSP00000329858:S14C	S	+	1	0	TRMT12	125532389	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.240000	0.18042	0.075000	0.16796	-0.379000	0.06801	AGT		0.502	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381465.1	NM_017956		4	316	0	0	0	1	0	4	316				
PRR11	55771	broad.mit.edu	37	17	57272789	57272789	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr17:57272789T>C	ENST00000262293.4	+	7	1154	c.842T>C	c.(841-843)gTt>gCt	p.V281A	CTD-2510F5.6_ENST00000577660.1_5'Flank	NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	281						cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCGACTCGAGTTACAAACGTC	0.393																																						ENST00000262293.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16						c.(841-843)gTt>gCt		proline rich 11							134.0	106.0	115.0					17																	57272789		2203	4300	6503	SO:0001583	missense	55771							g.chr17:57272789T>C		CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.842T>C	17.37:g.57272789T>C	ENSP00000262293:p.Val281Ala		Somatic					p.V281A	NM_018304.3	NP_060774.2	WXS	Illumina GAIIx	Phase_I	Q96HE9	PRR11_HUMAN			7	1154	+	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		281					Q9NUZ7|Q9NXE9	Missense_Mutation	SNP	ENST00000262293.4	37	c.842T>C	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808043	0.70797	.	.	ENSG00000068489	ENST00000262293	.	.	.	4.82	4.82	0.62117	.	0.108239	0.40554	N	0.001070	T	0.49966	0.1588	L	0.57536	1.79	0.32773	N	0.503546	P	0.49961	0.93	P	0.47915	0.561	T	0.63778	-0.6560	9	0.39692	T	0.17	-8.1254	12.0427	0.53462	0.0:0.0:0.0:1.0	.	281	Q96HE9	PRR11_HUMAN	A	281	.	ENSP00000262293:V281A	V	+	2	0	PRR11	54627571	0.903000	0.30736	1.000000	0.80357	0.993000	0.82548	1.488000	0.35551	1.922000	0.55676	0.533000	0.62120	GTT		0.393	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	NM_018304		3	131	0	0	0	1	0	3	131				
INADL	10207	broad.mit.edu	37	1	62288627	62288627	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:62288627T>C	ENST00000371158.2	+	15	1808	c.1694T>C	c.(1693-1695)aTt>aCt	p.I565T	INADL_ENST00000316485.6_Missense_Mutation_p.I565T	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	565	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTGCTGCCTATTCACACTCTG	0.428																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(1693-1695)aTt>aCt		InaD-like (Drosophila)							223.0	204.0	210.0					1																	62288627		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62288627T>C	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1694T>C	1.37:g.62288627T>C	ENSP00000360200:p.Ile565Thr		Somatic				INADL_ENST00000316485.6_Missense_Mutation_p.I565T	p.I565T	NM_176877.2	NP_795352.2	WXS	Illumina GAIIx	Phase_I	Q8NI35	INADL_HUMAN			15	1808	+			565			PDZ 4.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.1694T>C	CCDS617.2	.	.	.	.	.	.	.	.	.	.	T	19.04	3.749745	0.69533	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.12147	2.89;2.71	4.99	4.99	0.66335	PDZ/DHR/GLGF (2);	0.078865	0.50627	D	0.000120	T	0.25232	0.0613	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.97	D;D;P	0.91635	0.992;0.999;0.88	T	0.02378	-1.1168	10	0.25106	T	0.35	.	14.3646	0.66799	0.0:0.0:0.0:1.0	.	565;565;565	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	T	565	ENSP00000360200:I565T;ENSP00000326199:I565T	ENSP00000255202:I565T	I	+	2	0	INADL	62061215	1.000000	0.71417	0.997000	0.53966	0.890000	0.51754	6.797000	0.75150	1.882000	0.54519	0.459000	0.35465	ATT		0.428	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		97	298	0	0	0	1	0	97	298				
SHMT2	6472	broad.mit.edu	37	12	57627609	57627609	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr12:57627609G>A	ENST00000328923.3	+	10	1653	c.1201G>A	c.(1201-1203)Gag>Aag	p.E401K	SHMT2_ENST00000393827.4_Missense_Mutation_p.E305K|SHMT2_ENST00000557487.1_Missense_Mutation_p.E391K|SHMT2_ENST00000414700.3_Missense_Mutation_p.E380K|SHMT2_ENST00000449049.3_Missense_Mutation_p.E380K|SHMT2_ENST00000553474.1_Missense_Mutation_p.E380K	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	401					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	GCGGGTGCTAGAGCTTGTATC	0.607																																					Esophageal Squamous(150;1369 2416 49071 49364)	ENST00000328923.3																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(1201-1203)Gag>Aag		serine hydroxymethyltransferase 2 (mitochondrial)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						64.0	69.0	67.0					12																	57627609		2203	4300	6503	SO:0001583	missense	6472					microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity	g.chr12:57627609G>A	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.1201G>A	12.37:g.57627609G>A	ENSP00000333667:p.Glu401Lys		Somatic				SHMT2_ENST00000414700.3_Missense_Mutation_p.E380K|SHMT2_ENST00000553474.1_Missense_Mutation_p.E380K|SHMT2_ENST00000393827.4_Missense_Mutation_p.E305K|SHMT2_ENST00000449049.3_Missense_Mutation_p.E380K|SHMT2_ENST00000557487.1_Missense_Mutation_p.E391K	p.E401K	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	WXS	Illumina GAIIx	Phase_I	P34897	GLYM_HUMAN			10	1653	+			401					B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	ENST00000328923.3	37	c.1201G>A	CCDS8934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.604436|5.604436	0.96626|0.96626	.|.	.|.	ENSG00000182199|ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000414700;ENST00000553474;ENST00000449049;ENST00000393827|ENST00000557529	T;T;T;T;T;T|.	0.46451|.	1.42;0.87;1.42;1.42;1.42;0.87|.	4.17|4.17	4.17|4.17	0.49024|0.49024	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87517|0.87517	0.6197|0.6197	H|H	0.96777|0.96777	3.88|3.88	0.80722|0.80722	D|D	1|1	D;D;D;D;P|.	0.76494|.	0.963;0.992;0.999;0.979;0.949|.	P;P;D;P;P|.	0.71184|.	0.884;0.884;0.972;0.89;0.703|.	D|D	0.91907|0.91907	0.5536|0.5536	10|5	0.87932|.	D|.	0|.	-8.4628|-8.4628	15.787|15.787	0.78315|0.78315	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	410;391;305;332;401|.	B4DWA7;Q8N1A5;B4DLV4;B4DP88;P34897|.	.;.;.;.;GLYM_HUMAN|.	K|K	401;391;380;380;380;305|200	ENSP00000333667:E401K;ENSP00000452315:E391K;ENSP00000406881:E380K;ENSP00000452419:E380K;ENSP00000413770:E380K;ENSP00000377413:E305K|.	ENSP00000333667:E401K|.	E|R	+|+	1|2	0|0	SHMT2|SHMT2	55913876|55913876	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.966000|0.966000	0.64601|0.64601	9.596000|9.596000	0.98267|0.98267	2.334000|2.334000	0.79466|0.79466	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.607	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412		13	62	0	0	0	1	0	13	62				
MMP13	4322	broad.mit.edu	37	11	102822797	102822797	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr11:102822797C>T	ENST00000260302.3	-	5	771	c.743G>A	c.(742-744)gGc>gAc	p.G248D	MMP13_ENST00000340273.4_Missense_Mutation_p.G248D	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	248					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G248D(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GTGGCTTTTGCCGGTGTAGGT	0.448																																						ENST00000260302.3																			1	Substitution - Missense(1)	p.G248D(1)	kidney(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(742-744)gGc>gAc		matrix metallopeptidase 13 (collagenase 3)							248.0	239.0	242.0					11																	102822797		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102822797C>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.743G>A	11.37:g.102822797C>T	ENSP00000260302:p.Gly248Asp		Somatic				MMP13_ENST00000340273.4_Missense_Mutation_p.G248D	p.G248D	NM_002427.3	NP_002418.1	WXS	Illumina GAIIx	Phase_I	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	5	771	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	248					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.743G>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	5.496	0.276438	0.10403	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.46819	0.86;0.86	5.59	4.68	0.58851	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.207964	0.52532	N	0.000079	T	0.16557	0.0398	N	0.01417	-0.88	0.44635	D	0.99761	B	0.02656	0.0	B	0.08055	0.003	T	0.20706	-1.0267	10	0.02654	T	1	.	10.717	0.46019	0.0:0.8549:0.0:0.1451	.	248	P45452	MMP13_HUMAN	D	248	ENSP00000260302:G248D;ENSP00000339672:G248D	ENSP00000260302:G248D	G	-	2	0	MMP13	102328007	0.817000	0.29147	1.000000	0.80357	0.983000	0.72400	1.516000	0.35856	1.479000	0.48272	0.655000	0.94253	GGC		0.448	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		6	621	0	0	0	1	0	6	621				
ATP1A2	477	broad.mit.edu	37	1	160098456	160098456	+	Silent	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:160098456G>C	ENST00000361216.3	+	9	1121	c.1032G>C	c.(1030-1032)ctG>ctC	p.L344L	ATP1A2_ENST00000392233.3_Silent_p.L344L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	344					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCTGACCCTGACAGCCAAGC	0.572																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(1030-1032)ctG>ctC		ATPase, Na+/K+ transporting, alpha 2 polypeptide							83.0	77.0	79.0					1																	160098456		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160098456G>C	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1032G>C	1.37:g.160098456G>C			Somatic				ATP1A2_ENST00000392233.3_Silent_p.L344L|ATP1A2_ENST00000472488.1_3'UTR	p.L344L	NM_000702.3	NP_000693.1	WXS	Illumina GAIIx	Phase_I	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		9	1121	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		344					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.1032G>C	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	8.661	0.900587	0.17686	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.77	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0569	0.53540	0.0858:0.0:0.9142:0.0	.	.	.	.	S	55	.	.	X	+	2	2	ATP1A2	158365080	0.990000	0.36364	1.000000	0.80357	0.929000	0.56500	0.128000	0.15810	1.141000	0.42275	0.561000	0.74099	TGA		0.572	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		4	319	0	0	0	1	0	4	319				
PTEN	5728	broad.mit.edu	37	10	89712017	89712017	+	Splice_Site	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr10:89712017G>A	ENST00000371953.3	+	6	1991		c.e6+1		PTEN_ENST00000472832.1_Splice_Site	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(5)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAACTTGCAGTAAGTGCTTG	0.343		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		50	Whole gene deletion(37)|Deletion - Frameshift(7)|Unknown(5)|Deletion - In frame(1)	p.0?(37)|p.R55fs*1(5)|p.?(5)|p.Y27fs*1(2)|p.G165_*404del(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|endometrium(2)|breast(2)|soft_tissue(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.e6+1		phosphatase and tensin homolog							139.0	138.0	138.0					10																	89712017		2203	4300	6503	SO:0001630	splice_region_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89712017G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.634+1G>A	10.37:g.89712017G>A		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic				PTEN_ENST00000472832.1_Splice_Site		NM_000314.4	NP_000305.3	WXS	Illumina GAIIx	Phase_I	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1991	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)						B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	ENST00000371953.3	37		CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221541	0.79464	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1698	0.98157	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89701997	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.365000	0.97139	2.777000	0.95525	0.585000	0.79938	.		0.343	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Intron	81	414	0	0	0	1	0	81	414				
ZNF664	144348	broad.mit.edu	37	12	124496890	124496890	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr12:124496890G>T	ENST00000539644.1	+	6	2029	c.199G>T	c.(199-201)Gat>Tat	p.D67Y	ZNF664_ENST00000538932.2_Missense_Mutation_p.D67Y|FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000337815.4_Missense_Mutation_p.D67Y|ZNF664_ENST00000392404.3_Missense_Mutation_p.D67Y			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	67					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TTGTGGTAAGGATTTTAGCAC	0.373																																						ENST00000539644.1																			0				breast(1)|large_intestine(5)|lung(6)|skin(1)	13						c.(199-201)Gat>Tat		zinc finger protein 664							88.0	97.0	94.0					12																	124496890		2203	4300	6503	SO:0001583	missense	144348				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:124496890G>T		CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.199G>T	12.37:g.124496890G>T	ENSP00000441405:p.Asp67Tyr		Somatic				RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000538932.2_Missense_Mutation_p.D67Y|ZNF664_ENST00000392404.3_Missense_Mutation_p.D67Y|ZNF664_ENST00000337815.4_Missense_Mutation_p.D67Y	p.D67Y			WXS	Illumina GAIIx	Phase_I	Q8N3J9	ZN664_HUMAN		Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)	6	2029	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		67					B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	37	c.199G>T	CCDS9257.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.14|12.14	1.848544|1.848544	0.32699|0.32699	.|.	.|.	ENSG00000179195|ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815|ENST00000535937	T;T;T;T|.	0.41400|.	1.0;1.0;1.0;1.0|.	4.07|4.07	4.07|4.07	0.47477|0.47477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.41823|.	D|.	0.000814|.	T|T	0.47154|0.47154	0.1430|0.1430	L|L	0.33668|0.33668	1.02|1.02	0.34110|0.34110	D|D	0.662875|0.662875	B|.	0.18461|.	0.028|.	B|.	0.33196|.	0.159|.	T|T	0.55029|0.55029	-0.8204|-0.8204	9|5	.|.	.|.	.|.	-38.189|-38.189	10.1369|10.1369	0.42712|0.42712	0.0:0.2032:0.7968:0.0|0.0:0.2032:0.7968:0.0	.|.	67|.	Q8N3J9|.	ZN664_HUMAN|.	Y|S	67|5	ENSP00000441405:D67Y;ENSP00000376205:D67Y;ENSP00000440645:D67Y;ENSP00000337320:D67Y|.	.|.	D|R	+|+	1|3	0|2	ZNF664|ZNF664	123062843|123062843	0.605000|0.605000	0.26941|0.26941	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.246000|0.246000	0.18160|0.18160	2.549000|2.549000	0.85964|0.85964	0.655000|0.655000	0.94253|0.94253	GAT|AGG		0.373	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437		5	265	1	0	3.59834e-05	1	3.79714e-05	5	265				
ZFYVE9	9372	broad.mit.edu	37	1	52747336	52747336	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:52747336T>C	ENST00000371591.1	+	9	3004	c.2873T>C	c.(2872-2874)gTg>gCg	p.V958A	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.V899A|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.V958A	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	958					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TCTGTAGATGTGAACAGGAAG	0.373																																						ENST00000287727.3																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						c.(2872-2874)gTg>gCg		zinc finger, FYVE domain containing 9							132.0	115.0	121.0					1																	52747336		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52747336T>C	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2873T>C	1.37:g.52747336T>C	ENSP00000360647:p.Val958Ala		Somatic				ZFYVE9_ENST00000357206.2_Missense_Mutation_p.V899A|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.V958A	p.V958A	NM_004799.2	NP_004790.2	WXS	Illumina GAIIx	Phase_I	O95405	ZFYV9_HUMAN			10	3045	+			958					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.2873T>C	CCDS563.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329044	0.81690	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.43688	1.04;0.94;0.94	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000002	T	0.49474	0.1559	L	0.50333	1.59	0.58432	D	0.999999	D;B	0.61697	0.99;0.131	P;B	0.58928	0.848;0.168	T	0.42032	-0.9475	10	0.07482	T	0.82	.	14.7338	0.69402	0.0:0.0:0.0:1.0	.	899;958	O95405-2;O95405	.;ZFYV9_HUMAN	A	899;958;958	ENSP00000349737:V899A;ENSP00000287727:V958A;ENSP00000360647:V958A	ENSP00000287727:V958A	V	+	2	0	ZFYVE9	52519924	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.757000	0.85209	2.062000	0.61559	0.482000	0.46254	GTG		0.373	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		9	124	0	0	0	1	0	9	124				
SPRY4	81848	broad.mit.edu	37	5	141694601	141694601	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr5:141694601G>A	ENST00000434127.2	-	2	316	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Missense_Mutation_p.R48W	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	25					multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.R48W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGACATCCGGCTGTCAAGA	0.602									Testicular Cancer, Familial Clustering of																													ENST00000344120.4																			1	Substitution - Missense(1)	p.R48W(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18						c.(142-144)Cgg>Tgg		sprouty homolog 4 (Drosophila)							28.0	29.0	29.0					5																	141694601		2158	4245	6403	SO:0001583	missense	81848	Testicular Cancer, Familial Clustering of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141694601G>A	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.73C>T	5.37:g.141694601G>A	ENSP00000399468:p.Arg25Trp		Somatic				SPRY4_ENST00000434127.2_Missense_Mutation_p.R25W	p.R48W	NM_030964.3	NP_112226.2	WXS	Illumina GAIIx	Phase_I	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	328	-		all_hematologic(541;0.118)	25					A4FVB2|A4FVB3|Q6QIX2|Q9C003	Missense_Mutation	SNP	ENST00000434127.2	37	c.142C>T	CCDS47296.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080686	0.55753	.	.	ENSG00000187678	ENST00000344120;ENST00000434127;ENST00000359661;ENST00000511815	T;T	0.75821	-0.97;-0.84	5.5	3.67	0.42095	.	0.000000	0.85682	D	0.000000	D	0.82314	0.5010	M	0.63843	1.955	0.58432	D	0.999999	D;B	0.89917	1.0;0.244	D;B	0.91635	0.999;0.033	T	0.81911	-0.0716	10	0.87932	D	0	-14.5982	9.8685	0.41160	0.0722:0.0:0.7838:0.144	.	25;25	Q9C004-2;Q9C004	.;SPY4_HUMAN	W	48;25;25;25	ENSP00000344967:R48W;ENSP00000399468:R25W	ENSP00000344967:R48W	R	-	1	2	SPRY4	141674785	1.000000	0.71417	0.979000	0.43373	0.983000	0.72400	5.238000	0.65366	0.648000	0.30732	0.561000	0.74099	CGG		0.602	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			37	49	0	0	0	1	0	37	49				
IMPG2	50939	broad.mit.edu	37	3	100949947	100949947	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:100949947A>G	ENST00000193391.7	-	16	3463	c.3276T>C	c.(3274-3276)tgT>tgC	p.C1092C		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1092	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CAAATTCCTCACAGTGCTTGC	0.488																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(3274-3276)tgT>tgC		interphotoreceptor matrix proteoglycan 2							255.0	218.0	231.0					3																	100949947		2203	4300	6503	SO:0001819	synonymous_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100949947A>G	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.3276T>C	3.37:g.100949947A>G			Somatic					p.C1092C	NM_016247.3	NP_057331.2	WXS	Illumina GAIIx	Phase_I	Q9BZV3	IMPG2_HUMAN			16	3463	-			1092			EGF-like 2.		A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	c.3276T>C	CCDS2940.1																																																																																				0.488	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			38	180	0	0	0	1	0	38	180				
MAP3K19	80122	broad.mit.edu	37	2	135744718	135744718	+	Missense_Mutation	SNP	G	G	A	rs373802326		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:135744718G>A	ENST00000375845.3	-	7	1754	c.1724C>T	c.(1723-1725)cCg>cTg	p.P575L	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P462L|MAP3K19_ENST00000392915.1_Missense_Mutation_p.P592L	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	575							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TCCCAAAGCCGGGAAAATTTG	0.433																																						ENST00000375845.3																			0											c.(1723-1725)cCg>cTg		mitogen-activated protein kinase kinase kinase 19		G	,LEU/PRO	0,4406		0,0,2203	80.0	84.0	82.0		,1724	4.9	0.8	2		82	2,8598	2.2+/-6.3	0,2,4298	no	intron,missense	YSK4	NM_001018046.1,NM_025052.3	,98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,probably-damaging	,575/1329	135744718	2,13004	2203	4300	6503	SO:0001583	missense	80122							g.chr2:135744718G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1724C>T	2.37:g.135744718G>A	ENSP00000365005:p.Pro575Leu		Somatic				MAP3K19_ENST00000392915.1_Missense_Mutation_p.P592L|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P462L|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron	p.P575L	NM_025052.3	NP_079328.3	WXS	Illumina GAIIx	Phase_I					7	1754	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.1724C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832610	0.32421	0.0	2.33E-4	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	D;D;T	0.85556	-2.0;-1.85;0.2	5.81	4.92	0.64577	.	0.000000	0.49305	D	0.000143	D	0.89434	0.6714	L	0.47190	1.495	0.80722	D	1	D;D;D	0.89917	0.991;1.0;0.985	P;D;P	0.74023	0.691;0.982;0.494	D	0.90424	0.4419	10	0.87932	D	0	.	14.5967	0.68413	0.0:0.0:0.7343:0.2657	.	462;592;575	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	L	575;462;592	ENSP00000365005:P575L;ENSP00000351140:P462L;ENSP00000376647:P592L	ENSP00000351140:P462L	P	-	2	0	YSK4	135461188	1.000000	0.71417	0.826000	0.32828	0.082000	0.17680	4.194000	0.58393	1.427000	0.47276	0.655000	0.94253	CCG		0.433	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		27	69	0	0	0	1	0	27	69				
ZNF586	54807	broad.mit.edu	37	19	58290117	58290117	+	Splice_Site	SNP	A	A	T	rs552247667		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr19:58290117A>T	ENST00000396154.2	+	3	336		c.e3-1		ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000391702.3_Splice_Site|ZNF586_ENST00000396150.4_Splice_Site	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTTGCTTTTAGGTTGTTGGC	0.433																																						ENST00000391702.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15						c.e4-1		zinc finger protein 586							62.0	59.0	60.0					19																	58290117		2020	4209	6229	SO:0001630	splice_region_variant	54807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58290117A>T	AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.164-1A>T	19.37:g.58290117A>T			Somatic				ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396150.4_Splice_Site|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000396154.2_Splice_Site		NM_001204814.1	NP_001191743.1	WXS	Illumina GAIIx	Phase_I	Q9NXT0	ZN586_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	401	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)						A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Splice_Site	SNP	ENST00000396154.2	37		CCDS42640.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.589934	0.46214	.	.	ENSG00000083828	ENST00000449441;ENST00000391702;ENST00000396154;ENST00000396150	.	.	.	1.3	1.3	0.21679	.	.	.	.	.	.	.	.	.	.	.	0.25782	N	0.984717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.7647	0.13127	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF586	62981929	0.438000	0.25602	0.040000	0.18447	0.886000	0.51366	0.856000	0.27818	0.840000	0.34995	0.533000	0.62120	.		0.433	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2	NM_017652	Intron	6	163	0	0	0	1	0	6	163				
SORBS2	8470	broad.mit.edu	37	4	186578723	186578723	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr4:186578723G>A	ENST00000284776.7	-	6	631	c.122C>T	c.(121-123)gCg>gTg	p.A41V	SORBS2_ENST00000319471.9_Missense_Mutation_p.A127V|SORBS2_ENST00000437304.2_Missense_Mutation_p.A220V|SORBS2_ENST00000393528.3_Missense_Mutation_p.A87V|SORBS2_ENST00000418609.1_5'Flank|SORBS2_ENST00000449407.2_Missense_Mutation_p.A127V|SORBS2_ENST00000355634.5_Missense_Mutation_p.A141V|SORBS2_ENST00000448662.2_Missense_Mutation_p.A110V|SORBS2_ENST00000498125.1_5'Flank|SORBS2_ENST00000431808.1_Missense_Mutation_p.A41V	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	41					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CAGAGACTGCGCATGCTGGGG	0.488																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(121-123)gCg>gTg		sorbin and SH3 domain containing 2							106.0	104.0	104.0					4																	186578723		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186578723G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.122C>T	4.37:g.186578723G>A	ENSP00000284776:p.Ala41Val		Somatic				SORBS2_ENST00000393528.3_Missense_Mutation_p.A87V|SORBS2_ENST00000355634.5_Missense_Mutation_p.A141V|SORBS2_ENST00000437304.2_Missense_Mutation_p.A220V|SORBS2_ENST00000319471.9_Missense_Mutation_p.A127V|SORBS2_ENST00000284776.7_Missense_Mutation_p.A41V|SORBS2_ENST00000449407.2_Missense_Mutation_p.A127V|SORBS2_ENST00000448662.2_Missense_Mutation_p.A110V	p.A41V			WXS	Illumina GAIIx	Phase_I	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	7	685	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	41					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.122C>T	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	4.329	0.060371	0.08339	.	.	ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454;ENST00000445343;ENST00000439914;ENST00000444771;ENST00000430503;ENST00000450341;ENST00000445115;ENST00000457247;ENST00000456596;ENST00000425679;ENST00000439049	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	4.88	2.18	0.27775	.	0.462954	0.24647	N	0.036760	T	0.12774	0.0310	N	0.12746	0.255	0.09310	N	0.999999	B;B;B;B;B;B;B;B;B;B;B;B	0.28258	0.003;0.029;0.007;0.009;0.007;0.003;0.002;0.205;0.003;0.014;0.003;0.029	B;B;B;B;B;B;B;B;B;B;B;B	0.22152	0.009;0.024;0.012;0.009;0.009;0.005;0.002;0.038;0.001;0.012;0.003;0.024	T	0.19549	-1.0302	10	0.22109	T	0.4	-5.1041	4.6064	0.12380	0.3154:0.0:0.5374:0.1472	.	104;87;110;87;141;41;127;220;110;87;41;87	B7Z3D7;G3XAI0;C9JKV9;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2	.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.	V	41;110;41;220;127;127;141;87;87;41;41;41;87;41;41;41;41;110;110	ENSP00000284776:A41V;ENSP00000409158:A110V;ENSP00000411764:A41V;ENSP00000396008:A220V;ENSP00000322182:A127V;ENSP00000397262:A127V;ENSP00000347852:A141V;ENSP00000377162:A87V;ENSP00000321983:A87V;ENSP00000399048:A41V;ENSP00000408909:A41V;ENSP00000410483:A41V;ENSP00000405349:A87V;ENSP00000415680:A41V;ENSP00000397664:A41V;ENSP00000398335:A41V;ENSP00000410967:A41V;ENSP00000415637:A110V;ENSP00000416464:A110V	ENSP00000284776:A41V	A	-	2	0	SORBS2	186815717	0.058000	0.20735	0.001000	0.08648	0.007000	0.05969	1.852000	0.39348	0.338000	0.23692	-0.222000	0.12452	GCG		0.488	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		3	93	0	0	0	1	0	3	93				
KATNA1	11104	broad.mit.edu	37	6	149959698	149959698	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr6:149959698T>A	ENST00000335643.8	-	2	267		c.e2-2		KATNA1_ENST00000367411.2_Splice_Site|KATNA1_ENST00000335647.5_5'UTR	NM_001204076.1	NP_001191005.1			katanin p60 (ATPase containing) subunit A 1											endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AACTGTAAGCTAAAAAGAAGA	0.323																																						ENST00000367411.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12						c.e2-2		katanin p60 (ATPase containing) subunit A 1							99.0	103.0	102.0					6																	149959698		2203	4299	6502	SO:0001630	splice_region_variant	11104				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity	g.chr6:149959698T>A	AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335643.8:c.13-2A>T	6.37:g.149959698T>A			Somatic				KATNA1_ENST00000335643.8_Splice_Site|KATNA1_ENST00000335647.5_5'UTR		NM_007044.3	NP_008975.1	WXS	Illumina GAIIx	Phase_I	O75449	KTNA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)	2	246	-		Ovarian(120;0.0164)							Splice_Site	SNP	ENST00000335643.8	37		CCDS56456.1																																																																																				0.323	KATNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000105344.1	NM_007044	Intron	4	132	0	0	0	1	0	4	132				
TMEM71	137835	broad.mit.edu	37	8	133764245	133764245	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:133764245T>A	ENST00000356838.3	-	4	244		c.e4-2		TMEM71_ENST00000517538.1_Splice_Site|TMEM71_ENST00000377901.4_Splice_Site|TMEM71_ENST00000523829.1_Splice_Site	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71							integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CAGGTGAAACTAAGAAGGAAA	0.438																																						ENST00000356838.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.e4-2		transmembrane protein 71							48.0	48.0	48.0					8																	133764245		2203	4300	6503	SO:0001630	splice_region_variant	137835					integral to membrane		g.chr8:133764245T>A	AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.102-2A>T	8.37:g.133764245T>A			Somatic				TMEM71_ENST00000377901.4_Splice_Site|TMEM71_ENST00000523829.1_Splice_Site|TMEM71_ENST00000517538.1_Splice_Site		NM_144649.2	NP_653250.2	WXS	Illumina GAIIx	Phase_I	Q6P5X7	TMM71_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		4	244	-	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)							Q3KRC2|Q8WVZ4|Q96LX9	Splice_Site	SNP	ENST00000356838.3	37		CCDS6366.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.184224	0.38609	.	.	ENSG00000165071	ENST00000523829;ENST00000356838;ENST00000377901;ENST00000519187;ENST00000519304	.	.	.	5.8	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9621	0.41701	0.0:0.0765:0.0:0.9235	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM71	133833427	1.000000	0.71417	0.050000	0.19076	0.108000	0.19459	3.155000	0.50700	1.014000	0.39417	0.528000	0.53228	.		0.438	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649	Intron	5	122	0	0	0	1	0	5	122				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000564451.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																197331							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C			Somatic				TUBB8P7_ENST00000567960.1_RNA				WXS	Illumina GAIIx	Phase_I					0	1866	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	205	0	0	0	1	0	4	205				
SLC39A14	23516	broad.mit.edu	37	8	22273349	22273349	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:22273349T>G	ENST00000381237.1	+	6	937	c.818T>G	c.(817-819)gTg>gGg	p.V273G	SLC39A14_ENST00000240095.6_Missense_Mutation_p.V273G|SLC39A14_ENST00000289952.5_Missense_Mutation_p.V273G|SLC39A14_ENST00000359741.5_Missense_Mutation_p.V273G	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	273					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GAGGAGGGGGTGATGGAGAAG	0.577																																						ENST00000381237.1																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12						c.(817-819)gTg>gGg		solute carrier family 39 (zinc transporter), member 14							104.0	87.0	93.0					8																	22273349		2203	4300	6503	SO:0001583	missense	23516					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	g.chr8:22273349T>G	D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"""Solute carriers"""	20858	protein-coding gene	gene with protein product		608736	"""solute carrier family 39 (metal ion transporter), member 14"""			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.818T>G	8.37:g.22273349T>G	ENSP00000370635:p.Val273Gly		Somatic				SLC39A14_ENST00000240095.6_Missense_Mutation_p.V273G|SLC39A14_ENST00000359741.5_Missense_Mutation_p.V273G|SLC39A14_ENST00000289952.5_Missense_Mutation_p.V273G	p.V273G	NM_001128431.2	NP_001121903.1	WXS	Illumina GAIIx	Phase_I	Q15043	S39AE_HUMAN		Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)	6	937	+			273					A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Missense_Mutation	SNP	ENST00000381237.1	37	c.818T>G	CCDS47823.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546883	0.45383	.	.	ENSG00000104635	ENST00000359741;ENST00000240095;ENST00000381237;ENST00000289952;ENST00000517370	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.88	5.88	0.94601	.	0.667665	0.15765	N	0.245722	T	0.35566	0.0936	L	0.29908	0.895	0.80722	D	1	B;P;B	0.41524	0.23;0.753;0.383	B;B;B	0.35859	0.173;0.212;0.143	T	0.12502	-1.0545	10	0.21540	T	0.41	-25.8356	15.2834	0.73806	0.0:0.0:0.0:1.0	.	273;273;273	Q15043-2;Q15043;B6EU88	.;S39AE_HUMAN;.	G	273;273;273;273;96	ENSP00000352779:V273G;ENSP00000240095:V273G;ENSP00000370635:V273G;ENSP00000289952:V273G;ENSP00000427981:V96G	ENSP00000240095:V273G	V	+	2	0	SLC39A14	22329294	1.000000	0.71417	0.697000	0.30258	0.700000	0.40528	5.473000	0.66774	2.246000	0.74042	0.533000	0.62120	GTG		0.577	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677		11	219	0	0	0	1	0	11	219				
FN1	2335	broad.mit.edu	37	2	216298131	216298131	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:216298131T>G	ENST00000359671.1	-	3	596	c.331A>C	c.(331-333)Act>Cct	p.T111P	FN1_ENST00000446046.1_Missense_Mutation_p.T111P|FN1_ENST00000336916.4_Missense_Mutation_p.T111P|FN1_ENST00000346544.3_Missense_Mutation_p.T111P|FN1_ENST00000357009.2_Missense_Mutation_p.T111P|FN1_ENST00000421182.1_Missense_Mutation_p.T111P|FN1_ENST00000345488.5_Missense_Mutation_p.T111P|FN1_ENST00000357867.4_Missense_Mutation_p.T111P|FN1_ENST00000443816.1_Missense_Mutation_p.T111P|FN1_ENST00000323926.6_Missense_Mutation_p.T111P|FN1_ENST00000356005.4_Missense_Mutation_p.T111P|FN1_ENST00000354785.4_Missense_Mutation_p.T111P|AC012462.1_ENST00000412951.1_RNA|FN1_ENST00000432072.2_Missense_Mutation_p.T111P|FN1_ENST00000426059.1_Missense_Mutation_p.T111P			P02751	FINC_HUMAN	fibronectin 1	111	Fibrin- and heparin-binding 1.|Fibronectin type-I 2. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CGCTCATAAGTGTCACCCACT	0.498																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(331-333)Act>Cct		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						146.0	123.0	130.0					2																	216298131		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216298131T>G		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.331A>C	2.37:g.216298131T>G	ENSP00000352696:p.Thr111Pro		Somatic				FN1_ENST00000336916.4_Missense_Mutation_p.T111P|FN1_ENST00000443816.1_Missense_Mutation_p.T111P|FN1_ENST00000432072.2_Missense_Mutation_p.T111P|FN1_ENST00000356005.4_Missense_Mutation_p.T111P|FN1_ENST00000421182.1_Missense_Mutation_p.T111P|FN1_ENST00000446046.1_Missense_Mutation_p.T111P|FN1_ENST00000359671.1_Missense_Mutation_p.T111P|FN1_ENST00000357867.4_Missense_Mutation_p.T111P|FN1_ENST00000357009.2_Missense_Mutation_p.T111P|FN1_ENST00000346544.3_Missense_Mutation_p.T111P|FN1_ENST00000345488.5_Missense_Mutation_p.T111P|FN1_ENST00000323926.6_Missense_Mutation_p.T111P|FN1_ENST00000426059.1_Missense_Mutation_p.T111P	p.T111P			WXS	Illumina GAIIx	Phase_I	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	3	700	-		Renal(323;0.127)	111			Fibrin- and heparin-binding 1.|Fibronectin type-I 2.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.331A>C		.	.	.	.	.	.	.	.	.	.	T	33	5.211540	0.95069	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	T	0.68238	0.2979	M	0.68952	2.095	0.80722	D	1	D;D;D;B;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.995;0.053;1.0;1.0;1.0;0.999;1.0;1.0;0.998	D;D;D;B;D;D;D;D;D;D;D	0.97110	1.0;0.998;0.97;0.075;0.984;0.99;1.0;0.972;0.984;0.984;0.998	T	0.70568	-0.4836	10	0.72032	D	0.01	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	111;111;111;111;111;111;111;111;111;111;111	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	P	111	ENSP00000394423:T111P;ENSP00000323534:T111P;ENSP00000338200:T111P;ENSP00000350534:T111P;ENSP00000346839:T111P;ENSP00000352696:T111P;ENSP00000265312:T111P;ENSP00000273049:T111P;ENSP00000349509:T111P;ENSP00000410422:T111P;ENSP00000415018:T111P;ENSP00000399538:T111P;ENSP00000348285:T111P;ENSP00000398907:T111P	ENSP00000265313:T111P	T	-	1	0	FN1	216006376	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.662000	0.83803	2.326000	0.78906	0.533000	0.62120	ACT		0.498	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		28	170	0	0	0	1	0	28	170				
LGSN	51557	broad.mit.edu	37	6	63990712	63990712	+	Nonsense_Mutation	SNP	A	A	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr6:63990712A>C	ENST00000370657.4	-	4	777	c.744T>G	c.(742-744)taT>taG	p.Y248*	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	248					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTCCAGTGTGATACAAGCCAT	0.403																																						ENST00000370657.4																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(742-744)taT>taG		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						48.0	43.0	44.0					6																	63990712		2203	4300	6503	SO:0001587	stop_gained	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990712A>C	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.744T>G	6.37:g.63990712A>C	ENSP00000359691:p.Tyr248*		Somatic				LGSN_ENST00000370658.5_Intron	p.Y248*			WXS	Illumina GAIIx	Phase_I	Q5TDP6	LGSN_HUMAN			4	777	-			248					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Nonsense_Mutation	SNP	ENST00000370657.4	37	c.744T>G	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.255188	0.22965	.	.	ENSG00000146166	ENST00000370657	.	.	.	5.17	-0.234	0.13074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-17.588	5.5683	0.17182	0.6465:0.1337:0.2199:0.0	.	.	.	.	X	248	.	ENSP00000359691:Y248X	Y	-	3	2	LGSN	64048671	1.000000	0.71417	0.956000	0.39512	0.030000	0.12068	2.853000	0.48317	-0.189000	0.10482	-0.256000	0.11100	TAT		0.403	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		14	51	0	0	0	1	0	14	51				
MSH2	4436	broad.mit.edu	37	2	47693859	47693859	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:47693859G>C	ENST00000233146.2	+	10	1796	c.1573G>C	c.(1573-1575)Gta>Cta	p.V525L	MSH2_ENST00000543555.1_Missense_Mutation_p.V459L|MSH2_ENST00000406134.1_Missense_Mutation_p.V525L	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	525					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTACTTTCGTGTAACCTGTAA	0.353			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000406134.1			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"""D, Mis, N, F, S"""	mutS homolog 2 (E. coli)			E		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		4	Whole gene deletion(2)|Unknown(2)	p.0?(2)|p.?(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112						c.(1573-1575)Gta>Cta	Mismatch excision repair (MMR)	mutS homolog 2							92.0	98.0	96.0					2																	47693859		2203	4300	6503	SO:0001583	missense	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47693859G>C	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1573G>C	2.37:g.47693859G>C	ENSP00000233146:p.Val525Leu		Somatic				MSH2_ENST00000233146.2_Missense_Mutation_p.V525L|MSH2_ENST00000543555.1_Missense_Mutation_p.V459L	p.V525L			WXS	Illumina GAIIx	Phase_I	P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1635	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	525					B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	c.1573G>C	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	G	9.154	1.016936	0.19355	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000413880	D;D;D	0.91996	-2.95;-2.95;-2.95	6.04	6.04	0.98038	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.053861	0.64402	D	0.000001	D	0.86058	0.5842	L	0.39566	1.225	0.58432	D	0.999999	B;P;B	0.42620	0.315;0.785;0.039	B;B;B	0.39465	0.225;0.3;0.26	D	0.83751	0.0209	10	0.02654	T	1	-22.8671	13.2611	0.60106	0.1114:0.0:0.8885:0.0	.	459;525;525	B4E2Z2;E9PHA6;P43246	.;.;MSH2_HUMAN	L	525;459;525;525;525;311	ENSP00000233146:V525L;ENSP00000442697:V459L;ENSP00000384199:V525L	ENSP00000233146:V525L	V	+	1	0	MSH2	47547363	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.699000	0.68310	2.873000	0.98535	0.563000	0.77884	GTA		0.353	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			6	165	0	0	0	1	0	6	165				
CHST10	9486	broad.mit.edu	37	2	101014489	101014489	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:101014489G>C	ENST00000264249.3	-	5	693	c.308C>G	c.(307-309)aCt>aGt	p.T103S	CHST10_ENST00000409701.1_Missense_Mutation_p.T103S|CHST10_ENST00000542617.1_Missense_Mutation_p.T151S	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	103					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GGAGACAGGAGTGTGCGAGAG	0.517																																						ENST00000264249.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(307-309)aCt>aGt		carbohydrate sulfotransferase 10							145.0	144.0	145.0					2																	101014489		2203	4300	6503	SO:0001583	missense	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101014489G>C	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.308C>G	2.37:g.101014489G>C	ENSP00000264249:p.Thr103Ser		Somatic				CHST10_ENST00000542617.1_Missense_Mutation_p.T151S|CHST10_ENST00000409701.1_Missense_Mutation_p.T103S	p.T103S	NM_004854.4	NP_004845.1	WXS	Illumina GAIIx	Phase_I	O43529	CHSTA_HUMAN			5	693	-			103					Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	c.308C>G	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.259274	0.59321	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701;ENST00000409046;ENST00000420858	T;T;T;T;T	0.69806	-0.4;-0.43;-0.4;0.96;0.9	5.69	5.69	0.88448	.	0.230818	0.44688	D	0.000426	T	0.61565	0.2357	M	0.65498	2.005	0.48341	D	0.999632	P	0.35077	0.483	B	0.24974	0.057	T	0.62181	-0.6908	10	0.08837	T	0.75	-22.8906	19.812	0.96551	0.0:0.0:1.0:0.0	.	103	O43529	CHSTA_HUMAN	S	103;151;103;103;103	ENSP00000264249:T103S;ENSP00000438869:T151S;ENSP00000387309:T103S;ENSP00000387121:T103S;ENSP00000405922:T103S	ENSP00000264249:T103S	T	-	2	0	CHST10	100380921	1.000000	0.71417	0.903000	0.35520	0.939000	0.58152	6.198000	0.72106	2.685000	0.91497	0.655000	0.94253	ACT		0.517	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		6	437	0	0	0	1	0	6	437				
KIF25	3834	broad.mit.edu	37	6	168440859	168440859	+	Silent	SNP	G	G	A	rs147571413	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr6:168440859G>A	ENST00000443060.2	+	7	1000	c.609G>A	c.(607-609)acG>acA	p.T203T	KIF25_ENST00000351261.3_Silent_p.T203T|KIF25_ENST00000354419.2_Silent_p.T203T			Q9UIL4	KIF25_HUMAN	kinesin family member 25	203	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TGATAATTACGGTGACTCTAA	0.512																																						ENST00000443060.2																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(607-609)acG>acA		kinesin family member 25							73.0	62.0	66.0					6																	168440859		2203	4300	6503	SO:0001819	synonymous_variant	3834				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168440859G>A	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.609G>A	6.37:g.168440859G>A			Somatic				KIF25_ENST00000351261.3_Silent_p.T203T|KIF25_ENST00000354419.2_Silent_p.T203T	p.T203T			WXS	Illumina GAIIx	Phase_I	Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	7	1000	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	203			Kinesin-motor.		O94775|Q5SZU9	Silent	SNP	ENST00000443060.2	37	c.609G>A	CCDS5305.1																																																																																				0.512	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			5	30	0	0	0	1	0	5	30				
TRAM1L1	133022	broad.mit.edu	37	4	118005505	118005505	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr4:118005505C>T	ENST00000310754.4	-	1	1231	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	349					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.G349*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						ACTCCCACTCCGTTTTCTGTT	0.393																																						ENST00000310754.4																			1	Substitution - Nonsense(1)	p.G349*(1)	lung(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1045-1047)Gga>Aga		translocation associated membrane protein 1-like 1							158.0	163.0	162.0					4																	118005505		2203	4300	6503	SO:0001583	missense	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118005505C>T	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.1045G>A	4.37:g.118005505C>T	ENSP00000309402:p.Gly349Arg		Somatic					p.G349R	NM_152402.2	NP_689615.2	WXS	Illumina GAIIx	Phase_I	Q8N609	TR1L1_HUMAN			1	1231	-			349					Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	c.1045G>A	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904230	0.72754	.	.	ENSG00000174599	ENST00000310754	T	0.50277	0.75	3.74	3.74	0.42951	.	1.517220	0.03495	N	0.217232	T	0.59636	0.2208	N	0.24115	0.695	0.52501	D	0.999957	D	0.89917	1.0	D	0.72075	0.976	T	0.52487	-0.8569	10	0.54805	T	0.06	-16.9383	13.8494	0.63487	0.0:1.0:0.0:0.0	.	349	Q8N609	TR1L1_HUMAN	R	349	ENSP00000309402:G349R	ENSP00000309402:G349R	G	-	1	0	TRAM1L1	118224953	0.712000	0.27916	0.838000	0.33150	0.891000	0.51852	2.593000	0.46180	2.385000	0.81259	0.650000	0.86243	GGA		0.393	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		64	171	0	0	0	1	0	64	171				
TTC37	9652	broad.mit.edu	37	5	94861313	94861313	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr5:94861313C>T	ENST00000358746.2	-	14	1497	c.1199G>A	c.(1198-1200)gGt>gAt	p.G400D		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	400						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATCAAATGAACCTTTGTTCCG	0.343																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(1198-1200)gGt>gAt		tetratricopeptide repeat domain 37							140.0	159.0	153.0					5																	94861313		2202	4300	6502	SO:0001583	missense	9652						binding	g.chr5:94861313C>T	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.1199G>A	5.37:g.94861313C>T	ENSP00000351596:p.Gly400Asp		Somatic					p.G400D	NM_014639.3	NP_055454.1	WXS	Illumina GAIIx	Phase_I	Q6PGP7	TTC37_HUMAN			14	1497	-			400					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.1199G>A	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935729	0.52972	.	.	ENSG00000198677	ENST00000358746;ENST00000514952	T;T	0.81247	-1.28;-1.47	5.82	4.95	0.65309	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.84862	0.5566	L	0.36672	1.1	0.58432	D	0.999999	D;P	0.89917	1.0;0.868	D;P	0.85130	0.997;0.57	D	0.85691	0.1307	10	0.52906	T	0.07	.	14.885	0.70560	0.0:0.9314:0.0:0.0686	.	352;400	D6RCE2;Q6PGP7	.;TTC37_HUMAN	D	400;352	ENSP00000351596:G400D;ENSP00000423742:G352D	ENSP00000351596:G400D	G	-	2	0	TTC37	94887069	1.000000	0.71417	0.911000	0.35937	0.128000	0.20619	3.757000	0.55212	1.470000	0.48102	0.655000	0.94253	GGT		0.343	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		8	388	0	0	0	1	0	8	388				
EXOSC10	5394	broad.mit.edu	37	1	11155902	11155902	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:11155902delG	ENST00000376936.4	-	3	334	c.285delC	c.(283-285)agcfs	p.S95fs	EXOSC10_ENST00000304457.7_Frame_Shift_Del_p.S95fs|EXOSC10_ENST00000544779.1_Frame_Shift_Del_p.S95fs	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	95					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CCTTAATGTTGCTGCGACACC	0.393																																					Colon(179;105 1987 14326 27364 29542)	ENST00000544779.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(283-285)agfs		exosome component 10							289.0	258.0	269.0					1																	11155902		2203	4300	6503	SO:0001589	frameshift_variant	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11155902delG	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.285delC	1.37:g.11155902delG	ENSP00000366135:p.Ser95fs		Somatic				EXOSC10_ENST00000376936.4_Frame_Shift_Del_p.S95fs|EXOSC10_ENST00000304457.7_Frame_Shift_Del_p.S95fs	p.S95fs			WXS	Illumina GAIIx	Phase_I	Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	3	290	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	95					B1AKQ0|B1AKQ1|Q15158	Frame_Shift_Del	DEL	ENST00000376936.4	37	c.285delC	CCDS30584.1																																																																																				0.393	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		114	415						114	415	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)gccfs	p.A3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.A3375fs	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)		GGTCATCTTTGCCCCCCGTTAC	0.426																																						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.(10198-10200)cccfs		vacuolar protein sorting 13 homolog D (S. cerevisiae)																																				SO:0001589	frameshift_variant	55187				protein localization			g.chr1:12422832_12422833insC	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.10204dupC	1.37:g.12422838_12422838dupC	ENSP00000350854:p.Ala3400fs		Somatic				VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	p.P3400fs	NM_015378.2	NP_056193.2	WXS	Illumina GAIIx	Phase_I	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)	51	10328_10329	+	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)	3399						Frame_Shift_Ins	INS	ENST00000358136.3	37	c.10198_10199insC	CCDS30588.1																																																																																				0.426	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		20	1063						20	1063	---	---	---	---
PRAMEF6	440561	broad.mit.edu	37	1	13109019	13109020	+	Frame_Shift_Ins	INS	-	-	G	rs587768266		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:13109019_13109020insG	ENST00000376182.1	-	4	1348_1349	c.1249_1250insC	c.(1249-1251)cggfs	p.R417fs	PRAMEF6_ENST00000414205.2_Frame_Shift_Ins_p.R417fs|PRAMEF6_ENST00000376192.5_Intron	NM_001282323.1	NP_001269252.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	417					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATAACTCTCCCGGGGGGCAGGA	0.52																																						ENST00000376182.1																			0				NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9						c.(1249-1251)ggafs		PRAME family member 6																																				SO:0001589	frameshift_variant	440561							g.chr1:13109019_13109020insG		CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"""-"""	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376182.1:c.1250dupC	1.37:g.13109025_13109025dupG	ENSP00000365353:p.Arg417fs		Somatic				PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000414205.2_Frame_Shift_Ins_p.G417fs	p.G417fs			WXS	Illumina GAIIx	Phase_I	Q5VXH4	PRAM6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1348_1349	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	417					A0AUJ9	Frame_Shift_Ins	INS	ENST00000376182.1	37	c.1249_1250insC																																																																																					0.520	PRAMEF6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001010889		8	475						8	475	---	---	---	---
PRAMEF26	645359	broad.mit.edu	37	1	13219469	13219470	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:13219469_13219470insT	ENST00000423177.1	-	1	111_112	c.112_113insA	c.(112-114)accfs	p.T38fs				H0Y7S4	PRA26_HUMAN	PRAME family member 26	0																	TCCTGCACTGGTTTTTTGTTCC	0.505																																						ENST00000423177.1																			0				breast(1)|lung(1)	2						c.(112-114)cagfs																																						SO:0001589	frameshift_variant	645359							g.chr1:13219469_13219470insT			1p36.21	2014-02-12	2013-09-24		ENSG00000229571	ENSG00000229571			49178	protein-coding gene	gene with protein product							Standard	XM_005276124		Approved			H0Y7S4	OTTHUMG00000074741	ENST00000423177.1:c.113dupA	1.37:g.13219475_13219475dupT	ENSP00000414869:p.Thr38fs		Somatic					p.Q38fs			WXS	Illumina GAIIx	Phase_I					1	111_112	-									Frame_Shift_Ins	INS	ENST00000423177.1	37	c.112_113insA																																																																																					0.505	PRAMEF26-001	PUTATIVE	not_best_in_genome_evidence|mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000158526.1			7	951						7	951	---	---	---	---
NBPF1	55672	broad.mit.edu	37	1	16901653	16901654	+	Splice_Site	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:16901653_16901654insG	ENST00000430580.2	-	20	3077_3078	c.2190_2191insC	c.(2188-2193)cccagg>cccCagg	p.R731fs	NBPF1_ENST00000420031.2_5'Flank|NBPF1_ENST00000432949.1_Splice_Site_p.R189fs|NBPF1_ENST00000287968.8_Splice_Site_p.R96fs	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	731	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAGTGTTACCTGGGGGCAGACG	0.431																																						ENST00000430580.2																			0											c.e20+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16901653_16901654insG	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2192+1->C	1.37:g.16901658_16901658dupG			Somatic				NBPF1_ENST00000432949.1_Splice_Site_p.PG188_splice|NBPF1_ENST00000287968.8_Splice_Site_p.PG95_splice	p.PG730_splice	NM_017940.3	NP_060410.2	WXS	Illumina GAIIx	Phase_I	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	20	3077_3078	-			730			NBPF 3.		Q8N4E8|Q9C0H0	Splice_Site	INS	ENST00000430580.2	37	c.2192_splice																																																																																					0.431	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Frame_Shift_Ins	8	2380						8	2380	---	---	---	---
LUZP1	7798	broad.mit.edu	37	1	23419318	23419319	+	Frame_Shift_Ins	INS	-	-	G	rs200183824	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:23419318_23419319insG	ENST00000302291.4	-	4	2237_2238	c.1436_1437insC	c.(1435-1437)ccgfs	p.P479fs	LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.P479fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.P479fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.P479fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	479					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CCTGAGCAGCCGGGGGGTAGCG	0.569																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(1435-1437)cgcfs		leucine zipper protein 1																																				SO:0001589	frameshift_variant	7798					nucleus		g.chr1:23419318_23419319insG	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1437dupC	1.37:g.23419324_23419324dupG	ENSP00000303758:p.Pro479fs		Somatic				LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.R479fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.R479fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.R479fs	p.R479fs			WXS	Illumina GAIIx	Phase_I	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	2237_2238	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	479					Q5TH93|Q8N4X3|Q8TEH1	Frame_Shift_Ins	INS	ENST00000302291.4	37	c.1436_1437insC	CCDS30628.1																																																																																				0.569	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		7	670						7	670	---	---	---	---
UBXN11	91544	broad.mit.edu	37	1	26608843	26608844	+	In_Frame_Ins	INS	-	-	GGGACA	rs151149897|rs66614970|rs6667693		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:26608843_26608844insGGGACA	ENST00000374222.1	-	16	1973_1974	c.1509_1510insTGTCCC	c.(1507-1512)cccggt>cccTGTCCCggt	p.502_503insPC	UBXN11_ENST00000374217.2_In_Frame_Ins_p.469_470insPC|UBXN11_ENST00000314675.7_In_Frame_Ins_p.382_383insPC|UBXN11_ENST00000374223.1_In_Frame_Ins_p.259_260insPC|UBXN11_ENST00000374221.3_In_Frame_Ins_p.502_503insPC|UBXN11_ENST00000357089.4_In_Frame_Ins_p.469_470insPC			Q5T124	UBX11_HUMAN	UBX domain protein 11	502	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ggaccgggaccgggactggggc	0.733																																						ENST00000314675.7																			2	Insertion - In frame(1)|Deletion - In frame(1)	p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)	upper_aerodigestive_tract(1)|ovary(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(1147-1152)ccgtcc>ccTGTCCCgtcc		UBX domain protein 11																																				SO:0001652	inframe_insertion	91544					cytoplasm|cytoskeleton		g.chr1:26608843_26608844insGGGACA	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1509_1510insTGTCCC	1.37:g.26608843_26608844insGGGACA	ENSP00000363339:p.Ser502_Pro503insProCys		Somatic				UBXN11_ENST00000374223.1_In_Frame_Ins_p.259_260insPV|UBXN11_ENST00000374222.1_In_Frame_Ins_p.502_503insPV|UBXN11_ENST00000374217.2_In_Frame_Ins_p.469_470insPV|UBXN11_ENST00000374221.3_In_Frame_Ins_p.502_503insPV|UBXN11_ENST00000357089.4_In_Frame_Ins_p.469_470insPV	p.382_383insPV	NM_001077262.1	NP_001070730.1	WXS	Illumina GAIIx	Phase_I	Q5T124	UBX11_HUMAN			11	1228_1229	-			502					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	In_Frame_Ins	INS	ENST00000374222.1	37	c.1149_1150insTGTCCC	CCDS41288.1																																																																																				0.733	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		4	7						4	7	---	---	---	---
RPS6KA1	6195	broad.mit.edu	37	1	26885310	26885311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:26885310_26885311insC	ENST00000374168.2	+	14	1251_1252	c.1097_1098insC	c.(1096-1101)atccccfs	p.IP366fs	RPS6KA1_ENST00000374166.4_Frame_Shift_Ins_p.IP355fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Ins_p.IP274fs|RPS6KA1_ENST00000530003.1_Frame_Shift_Ins_p.IP350fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Ins_p.IP375fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Ins_p.IP274fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	366	AGC-kinase C-terminal.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TCCCCAGGCATCCCCCCCAGCG	0.673																																						ENST00000374168.2																			0				lung(1)	1						c.(1096-1098)accfs		ribosomal protein S6 kinase, 90kDa, polypeptide 1																																				SO:0001589	frameshift_variant	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26885310_26885311insC	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1104dupC	1.37:g.26885317_26885317dupC	ENSP00000363283:p.Ile366fs		Somatic				RPS6KA1_ENST00000530003.1_Frame_Shift_Ins_p.T350fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Ins_p.T274fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Ins_p.T355fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Ins_p.T274fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Ins_p.T375fs	p.T366fs	NM_002953.3	NP_002944.2	WXS	Illumina GAIIx	Phase_I	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	14	1251_1252	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	366			AGC-kinase C-terminal.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Frame_Shift_Ins	INS	ENST00000374168.2	37	c.1097_1098insC	CCDS284.1																																																																																				0.673	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		8	148						8	148	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5542-5544)gggfs	p.G1848fs	ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.G1465fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.G1631fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.G176fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1848					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	3	Insertion - Frameshift(3)	p.G1848fs*6(3)	ovary(2)|endometrium(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5539-5544)ggggggfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27105930_27105931insG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5548dupG	1.37:g.27105937_27105937dupG	ENSP00000320485:p.Gly1848fs		Somatic				ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs	p.GG1847fs	NM_006015.4	NP_006006.3	WXS	Illumina GAIIx	Phase_I	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	5912_5913	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1847					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.5541_5542insG	CCDS285.1																																																																																				0.579	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		10	467						10	467	---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)tccfs	p.S344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.S354fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515																																						ENST00000373839.3																			1	Deletion - Frameshift(1)	p.P356fs*33(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1030-1032)cccfs		phosphatase and actin regulator 4																																				SO:0001589	frameshift_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800272_28800273insC	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1037dupC	1.37:g.28800279_28800279dupC	ENSP00000362945:p.Ser344fs		Somatic				PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	p.P344fs	NM_001048183.1	NP_001041648.1	WXS	Illumina GAIIx	Phase_I	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1291_1292	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	344			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Frame_Shift_Ins	INS	ENST00000373839.3	37	c.1030_1031insC	CCDS41293.1																																																																																				0.515	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		8	554						8	554	---	---	---	---
KHDRBS1	10657	broad.mit.edu	37	1	32503458	32503459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:32503458_32503459insG	ENST00000327300.7	+	6	1095_1096	c.928_929insG	c.(928-930)cggfs	p.R310fs	KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.R271fs	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGACCACCTCGGGGGGCTTTG	0.5																																					Ovarian(173;401 1982 12359 31110 42403)	ENST00000327300.7																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14						c.(928-930)gggfs		KH domain containing, RNA binding, signal transduction associated 1																																				SO:0001589	frameshift_variant	10657				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:32503458_32503459insG	U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.934dupG	1.37:g.32503464_32503464dupG	ENSP00000313829:p.Arg310fs		Somatic				KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.G271fs|KHDRBS1_ENST00000307714.8_3'UTR	p.G310fs	NM_006559.1	NP_006550.1	WXS	Illumina GAIIx	Phase_I	Q07666	KHDR1_HUMAN			6	1095_1096	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	310			Arg/Gly-rich.			Frame_Shift_Ins	INS	ENST00000327300.7	37	c.928_929insG	CCDS350.1																																																																																				0.500	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559		10	311						10	311	---	---	---	---
MARCKSL1	65108	broad.mit.edu	37	1	32800539	32800540	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:32800539_32800540insG	ENST00000329421.7	-	2	591_592	c.246_247insC	c.(244-249)cccaagfs	p.K83fs		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	83					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.K83fs*33(2)		breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGGGTCTCCTTGGGGGGGACCT	0.589																																						ENST00000329421.7																			2	Insertion - Frameshift(2)	p.K83fs*33(2)	large_intestine(2)	breast(1)|large_intestine(3)|lung(1)|ovary(1)	6						c.(244-249)ccaggafs		MARCKS-like 1																																				SO:0001589	frameshift_variant	65108					plasma membrane	calmodulin binding	g.chr1:32800539_32800540insG	AF031640	CCDS361.1	1p35.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000175130	ENSG00000175130			7142	protein-coding gene	gene with protein product		602940	"""MARCKS-like protein"""	MLP		9598313	Standard	NM_023009		Approved	F52, MacMARCKS, MLP1	uc001bvd.4	P49006	OTTHUMG00000007589	ENST00000329421.7:c.247dupC	1.37:g.32800546_32800546dupG	ENSP00000362638:p.Lys83fs		Somatic					p.G83fs	NM_023009.6	NP_075385.1	WXS	Illumina GAIIx	Phase_I	P49006	MRP_HUMAN			2	591_592	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	83					D3DPQ0|Q5TEE6|Q6NXS5	Frame_Shift_Ins	INS	ENST00000329421.7	37	c.246_247insC	CCDS361.1																																																																																				0.589	MARCKSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020059.3	NM_023009		7	99						7	99	---	---	---	---
PHC2	1912	broad.mit.edu	37	1	33799791	33799792	+	Frame_Shift_Ins	INS	-	-	G	rs34753508		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:33799791_33799792insG	ENST00000257118.5	-	9	1710_1711	c.1657_1658insC	c.(1657-1659)cagfs	p.Q553fs	PHC2_ENST00000373418.3_Frame_Shift_Ins_p.Q18fs|PHC2_ENST00000485928.1_5'UTR|MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000373422.3_Frame_Shift_Ins_p.Q159fs|RN7SKP16_ENST00000410180.1_RNA|PHC2_ENST00000373416.1_Frame_Shift_Ins_p.Q18fs|PHC2_ENST00000431992.1_Frame_Shift_Ins_p.Q524fs|PHC2_ENST00000419414.2_Frame_Shift_Ins_p.Q554fs	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	553					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTCACCATTCTGGGGGGCAGTG	0.589																																						ENST00000257118.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1657-1659)gaafs		polyhomeotic homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33799791_33799792insG	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1658dupC	1.37:g.33799797_33799797dupG	ENSP00000257118:p.Gln553fs		Somatic				PHC2_ENST00000373416.1_Frame_Shift_Ins_p.E18fs|PHC2_ENST00000373422.3_Frame_Shift_Ins_p.E159fs|PHC2_ENST00000431992.1_Frame_Shift_Ins_p.E524fs|PHC2_ENST00000373418.3_Frame_Shift_Ins_p.E18fs|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000419414.2_Frame_Shift_Ins_p.E554fs	p.E553fs	NM_198040.2	NP_932157.1	WXS	Illumina GAIIx	Phase_I	Q8IXK0	PHC2_HUMAN			9	1710_1711	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	553					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Frame_Shift_Ins	INS	ENST00000257118.5	37	c.1657_1658insC	CCDS378.1																																																																																				0.589	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		8	726						8	726	---	---	---	---
BMP8A	353500	broad.mit.edu	37	1	39988691	39988692	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:39988691_39988692insC	ENST00000331593.5	+	6	1307_1308	c.961_962insC	c.(961-963)gccfs	p.A321fs	RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	321					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|diet induced thermogenesis (GO:0002024)|growth (GO:0040007)|negative regulation of insulin secretion (GO:0046676)|ossification (GO:0001503)|regulation of energy homeostasis (GO:2000505)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGGGTCATCGCCCCCCAAGGC	0.644																																						ENST00000331593.5																			0				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(961-963)cccfs		bone morphogenetic protein 8a																																				SO:0001589	frameshift_variant	353500				cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity	g.chr1:39988691_39988692insC	AY303954	CCDS437.1	1p35-p32	2014-01-30			ENSG00000183682	ENSG00000183682		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	21650	protein-coding gene	gene with protein product							Standard	NM_181809		Approved		uc001cdi.3	Q7Z5Y6	OTTHUMG00000008394	ENST00000331593.5:c.967dupC	1.37:g.39988697_39988697dupC	ENSP00000327440:p.Ala321fs		Somatic				RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA	p.P321fs	NM_181809.3	NP_861525.2	WXS	Illumina GAIIx	Phase_I	Q7Z5Y6	BMP8A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		6	1307_1308	+	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	321					Q5T3A5	Frame_Shift_Ins	INS	ENST00000331593.5	37	c.961_962insC	CCDS437.1																																																																																				0.644	BMP8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023079.1	NM_181809		7	397						7	397	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42050006	42050007	+	Frame_Shift_Ins	INS	-	-	G	rs138785392|rs371531691		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:42050006_42050007insG	ENST00000372583.1	-	4	1347_1348	c.462_463insC	c.(460-465)cccgagfs	p.E155fs	HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.E155fs|HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.E155fs|HIVEP3_ENST00000372584.1_Frame_Shift_Ins_p.E155fs	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	155					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGAAGGTCCTCGGGGGGAATGA	0.604																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(460-465)ccaggafs		human immunodeficiency virus type I enhancer binding protein 3																																				SO:0001589	frameshift_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42050006_42050007insG	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.463dupC	1.37:g.42050012_42050012dupG	ENSP00000361664:p.Glu155fs		Somatic				HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.G155fs	p.G155fs	NM_001127714.2	NP_001121186.1	WXS	Illumina GAIIx	Phase_I	Q5T1R4	ZEP3_HUMAN			3	1476_1477	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	155					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Frame_Shift_Ins	INS	ENST00000372583.1	37	c.462_463insC	CCDS463.1																																																																																				0.604	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		7	432						7	432	---	---	---	---
SZT2	23334	broad.mit.edu	37	1	43896326	43896327	+	Frame_Shift_Ins	INS	-	-	G	rs541972325	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:43896326_43896327insG	ENST00000562955.1	+	31	4469_4470	c.4469_4470insG	c.(4468-4473)ttggggfs	p.LG1490fs	SZT2_ENST00000372442.1_Frame_Shift_Ins_p.LG648fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1547					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTCAGTATCTTGGGGGGCGACT	0.609																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(4468-4470)tggfs		seizure threshold 2 homolog (mouse)																																				SO:0001589	frameshift_variant	23334					peroxisome		g.chr1:43896326_43896327insG	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4475dupG	1.37:g.43896332_43896332dupG	ENSP00000457168:p.Leu1490fs		Somatic				SZT2_ENST00000372442.1_Frame_Shift_Ins_p.W648fs	p.W1490fs	NM_015284.3	NP_056099.3	WXS	Illumina GAIIx	Phase_I	Q5T011	SZT2_HUMAN			31	4469_4470	+			1547					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Frame_Shift_Ins	INS	ENST00000562955.1	37	c.4469_4470insG	CCDS30694.2																																																																																				0.609	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		13	459						13	459	---	---	---	---
DPH2	1802	broad.mit.edu	37	1	44437613	44437614	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:44437613_44437614insC	ENST00000255108.3	+	4	1211_1212	c.1039_1040insC	c.(1039-1041)gccfs	p.A347fs	DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Frame_Shift_Ins_p.A212fs|ATP6V0B_ENST00000472174.2_5'Flank	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	347					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GGGTGCTCTAGCCCCCCAGCTT	0.609																																						ENST00000255108.3																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19						c.(1039-1041)cccfs		DPH2 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	1802				peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm		g.chr1:44437613_44437614insC	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.1045dupC	1.37:g.44437619_44437619dupC	ENSP00000255108:p.Ala347fs		Somatic				DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Frame_Shift_Ins_p.P212fs	p.P347fs	NM_001384.4	NP_001375.2	WXS	Illumina GAIIx	Phase_I	Q9BQC3	DPH2_HUMAN			4	1211_1212	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	347					A8MVC9|B2RDE3|B4DNI8|O60623	Frame_Shift_Ins	INS	ENST00000255108.3	37	c.1039_1040insC	CCDS504.1																																																																																				0.609	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022832.1	NM_001384		7	257						7	257	---	---	---	---
RNF220	55182	broad.mit.edu	37	1	44878032	44878033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:44878032_44878033insC	ENST00000355387.2	+	2	713_714	c.263_264insC	c.(262-267)ttccccfs	p.FP88fs	RNF220_ENST00000361799.2_Frame_Shift_Ins_p.FP88fs|RNF220_ENST00000372247.2_Frame_Shift_Ins_p.FP88fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	88					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AATCGTGATTTCCCCCCTTCTC	0.515																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(262-264)tccfs		ring finger protein 220																																				SO:0001589	frameshift_variant	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44878032_44878033insC	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.269dupC	1.37:g.44878038_44878038dupC	ENSP00000347548:p.Phe88fs		Somatic				RNF220_ENST00000361799.2_Frame_Shift_Ins_p.S88fs|RNF220_ENST00000372247.2_Frame_Shift_Ins_p.S88fs	p.S88fs			WXS	Illumina GAIIx	Phase_I	Q5VTB9	RN220_HUMAN			2	713_714	+			88					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Frame_Shift_Ins	INS	ENST00000355387.2	37	c.263_264insC	CCDS510.1																																																																																				0.515	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		12	1889						12	1889	---	---	---	---
LRRC41	10489	broad.mit.edu	37	1	46751494	46751495	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:46751494_46751495insG	ENST00000343304.6	-	4	1319_1320	c.1034_1035insC	c.(1033-1035)ccafs	p.P345fs	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	345					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGGAGGTGGCTGGGGGGTGCAG	0.619																																						ENST00000343304.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(1033-1035)cgcfs		leucine rich repeat containing 41																																				SO:0001589	frameshift_variant	10489							g.chr1:46751494_46751495insG	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1035dupC	1.37:g.46751500_46751500dupG	ENSP00000343298:p.Pro345fs		Somatic				LRRC41_ENST00000472710.1_5'UTR	p.R345fs	NM_006369.4	NP_006360.3	WXS	Illumina GAIIx	Phase_I	Q15345	LRC41_HUMAN			4	1319_1320	-	Acute lymphoblastic leukemia(166;0.155)		345					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Frame_Shift_Ins	INS	ENST00000343304.6	37	c.1034_1035insC	CCDS533.1																																																																																				0.619	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		13	296						13	296	---	---	---	---
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G	rs371885641		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)cccactfs	p.T118fs	FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.T118fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594																																						ENST00000302250.2																			1	Deletion - Frameshift(1)	p.T118fs*43(1)	ovary(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(349-354)ccctatfs		family with sequence similarity 151, member A			,	13,4253		0,13,2120					,	3.2	0.2			92	8,8246		0,8,4119	no	frameshift,intron	ACOT11,FAM151A	NM_176782.2,NM_015547.3	,	0,21,6239	A1A1,A1R,RR		0.0969,0.3047,0.1677	,	,		21,12499				SO:0001589	frameshift_variant	338094					integral to membrane		g.chr1:55081756_55081757insG	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.352dupC	1.37:g.55081763_55081763dupG	ENSP00000306888:p.Thr118fs		Somatic				ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	p.Y118fs	NM_176782.2	NP_788954.2	WXS	Illumina GAIIx	Phase_I	Q8WW52	F151A_HUMAN			3	511_512	-			118					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Frame_Shift_Ins	INS	ENST00000302250.2	37	c.351_352insC	CCDS594.1																																																																																				0.594	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		26	433						26	433	---	---	---	---
DAB1	1600	broad.mit.edu	37	1	57491653	57491654	+	Splice_Site	INS	-	-	G	rs138352976|rs201318657		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:57491653_57491654insG	ENST00000371231.1	-	11	919_920		c.e11+1		DAB1_ENST00000371234.4_Splice_Site|DAB1_ENST00000485760.1_Splice_Site|DAB1_ENST00000371236.2_Splice_Site|DAB1_ENST00000420954.2_Splice_Site|DAB1_ENST00000439789.2_Splice_Site|DAB1_ENST00000414851.2_Splice_Site			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)						adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGCATACTTACGGGGGGAGAGG	0.465																																						ENST00000371236.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.e10+1		Dab, reelin signal transducer, homolog 1 (Drosophila)																																				SO:0001630	splice_region_variant	1600				cell differentiation|nervous system development			g.chr1:57491653_57491654insG	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.885+1->C	1.37:g.57491659_57491659dupG			Somatic				DAB1_ENST00000439789.2_Splice_Site|DAB1_ENST00000371234.4_Splice_Site|DAB1_ENST00000371231.1_Splice_Site|DAB1_ENST00000414851.2_Splice_Site|DAB1_ENST00000420954.2_Splice_Site|DAB1_ENST00000485760.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	O75553	DAB1_HUMAN			10	1049_1050	-								A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Splice_Site	INS	ENST00000371231.1	37																																																																																						0.465	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080	Intron	10	579						10	579	---	---	---	---
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779|rs183693555	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:59812016_59812017insG	ENST00000303721.7	+	4	585_586	c.411_412insG	c.(412-414)gggfs	p.G138fs	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371218.4_Frame_Shift_Ins_p.G138fs|FGGY_ENST00000371212.1_Intron	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	138					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.5																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(409-414)gtggggfs		FGGY carbohydrate kinase domain containing																																				SO:0001589	frameshift_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59812016_59812017insG		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.418dupG	1.37:g.59812023_59812023dupG	ENSP00000305922:p.Gly138fs		Somatic				FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs	p.VG137fs	NM_001113411.1	NP_001106882.1	WXS	Illumina GAIIx	Phase_I	Q96C11	FGGY_HUMAN			4	595_596	+	all_cancers(7;7.36e-05)		137					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Frame_Shift_Ins	INS	ENST00000303721.7	37	c.411_412insG	CCDS611.2																																																																																				0.500	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		14	290						14	290	---	---	---	---
CACHD1	57685	broad.mit.edu	37	1	65157116	65157117	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:65157116_65157117insC	ENST00000371073.2	+	27	3697_3698	c.3697_3698insC	c.(3697-3699)accfs	p.T1233fs	CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.T1182fs|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1233					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.Q1185fs*23(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGACCTGGATACCCCCCCTCAG	0.554																																						ENST00000371073.2																			1	Insertion - Frameshift(1)	p.Q1185fs*23(1)	large_intestine(1)	breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(3697-3699)cccfs		cache domain containing 1																																				SO:0001589	frameshift_variant	57685				calcium ion transport	integral to membrane		g.chr1:65157116_65157117insC	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3704dupC	1.37:g.65157123_65157123dupC	ENSP00000360113:p.Thr1233fs		Somatic				CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.P1182fs|CACHD1_ENST00000495994.1_3'UTR	p.P1233fs			WXS	Illumina GAIIx	Phase_I	Q5VU97	CAHD1_HUMAN			27	3697_3698	+			1233					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Frame_Shift_Ins	INS	ENST00000371073.2	37	c.3697_3698insC																																																																																					0.554	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		8	215						8	215	---	---	---	---
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G	rs368823178		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:65325832_65325833insG	ENST00000342505.4	-	9	1537_1538	c.1289_1290insC	c.(1288-1290)ccgfs	p.P430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GGACGATCAACGGGGGGGCCAC	0.54			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(1288-1290)cttfs		Janus kinase 1																																				SO:0001589	frameshift_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65325832_65325833insG	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1290dupC	1.37:g.65325839_65325839dupG	ENSP00000343204:p.Pro430fs		Somatic					p.L430fs	NM_002227.2	NP_002218.2	WXS	Illumina GAIIx	Phase_I	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	9	1537_1538	-			430					Q59GQ2|Q9UD26	Frame_Shift_Ins	INS	ENST00000342505.4	37	c.1289_1290insC	CCDS41346.1																																																																																				0.540	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		16	369						16	369	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C	rs552970171		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)gccfs	p.A352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(1054-1056)catfs		oviductal glycoprotein 1, 120kDa																																				SO:0001589	frameshift_variant	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111959046_111959047insC	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1055dupG	1.37:g.111959053_111959053dupC	ENSP00000358747:p.Ala352fs		Somatic				OVGP1_ENST00000540696.1_3'UTR	p.H352fs	NM_002557.3	NP_002548.3	WXS	Illumina GAIIx	Phase_I	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	10	1109_1110	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	352					A0AV19|B9EGE1|Q15841	Frame_Shift_Ins	INS	ENST00000369732.3	37	c.1054_1055insG	CCDS834.1																																																																																				0.505	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		34	675						34	675	---	---	---	---
HIPK1	204851	broad.mit.edu	37	1	114514537	114514538	+	Frame_Shift_Ins	INS	-	-	G	rs377426569		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:114514537_114514538insG	ENST00000369558.1	+	15	3337_3338	c.3105_3106insG	c.(3106-3108)gggfs	p.G1036fs	HIPK1_ENST00000406344.1_Frame_Shift_Ins_p.G642fs|HIPK1_ENST00000369561.4_Frame_Shift_Ins_p.G1002fs|HIPK1_ENST00000369559.4_Frame_Shift_Ins_p.G1036fs|HIPK1_ENST00000369554.2_Frame_Shift_Ins_p.G991fs|HIPK1_ENST00000369553.1_Frame_Shift_Ins_p.G642fs|HIPK1_ENST00000426820.2_Frame_Shift_Ins_p.G1036fs|HIPK1_ENST00000369555.2_Frame_Shift_Ins_p.G991fs|HIPK1_ENST00000340480.4_Frame_Shift_Ins_p.G662fs			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1036	Interaction with TP53.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGCTCAACGCGGGGGGACCAG	0.525																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(3103-3108)cgggggfs		homeodomain interacting protein kinase 1																																				SO:0001589	frameshift_variant	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114514537_114514538insG	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.3111dupG	1.37:g.114514543_114514543dupG	ENSP00000358571:p.Gly1036fs		Somatic				HIPK1_ENST00000369554.2_Frame_Shift_Ins_p.RG990fs|HIPK1_ENST00000369555.2_Frame_Shift_Ins_p.RG990fs|HIPK1_ENST00000426820.2_Frame_Shift_Ins_p.RG1035fs|HIPK1_ENST00000369559.4_Frame_Shift_Ins_p.RG1035fs|HIPK1_ENST00000369561.4_Frame_Shift_Ins_p.RG1001fs|HIPK1_ENST00000369553.1_Frame_Shift_Ins_p.RG641fs|HIPK1_ENST00000406344.1_Frame_Shift_Ins_p.RG641fs|HIPK1_ENST00000340480.4_Frame_Shift_Ins_p.RG661fs	p.RG1035fs			WXS	Illumina GAIIx	Phase_I	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	3337_3338	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	1035			Interaction with TP53.		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Frame_Shift_Ins	INS	ENST00000369558.1	37	c.3105_3106insG	CCDS867.1																																																																																				0.525	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		8	236						8	236	---	---	---	---
HIPK1	204851	broad.mit.edu	37	1	114515697	114515698	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:114515697_114515698insC	ENST00000369558.1	+	16	3428_3429	c.3196_3197insC	c.(3196-3198)gccfs	p.A1066fs	HIPK1_ENST00000406344.1_Frame_Shift_Ins_p.A672fs|HIPK1_ENST00000369561.4_Frame_Shift_Ins_p.A1032fs|HIPK1_ENST00000369554.2_Frame_Shift_Ins_p.A1021fs|HIPK1_ENST00000369553.1_Frame_Shift_Ins_p.A672fs|HIPK1_ENST00000426820.2_Frame_Shift_Ins_p.A1066fs|HIPK1_ENST00000369555.2_Frame_Shift_Ins_p.A1021fs|HIPK1_ENST00000340480.4_Frame_Shift_Ins_p.A692fs			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1066	Interaction with TP53.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCAACCCAGCCCCCCGCAGG	0.614																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(3196-3198)cccfs		homeodomain interacting protein kinase 1																																				SO:0001589	frameshift_variant	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114515697_114515698insC	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.3202dupC	1.37:g.114515703_114515703dupC	ENSP00000358571:p.Ala1066fs		Somatic				HIPK1_ENST00000369554.2_Frame_Shift_Ins_p.P1021fs|HIPK1_ENST00000369555.2_Frame_Shift_Ins_p.P1021fs|HIPK1_ENST00000426820.2_Frame_Shift_Ins_p.P1066fs|HIPK1_ENST00000369561.4_Frame_Shift_Ins_p.P1032fs|HIPK1_ENST00000369553.1_Frame_Shift_Ins_p.P672fs|HIPK1_ENST00000406344.1_Frame_Shift_Ins_p.P672fs|HIPK1_ENST00000340480.4_Frame_Shift_Ins_p.P692fs	p.P1066fs			WXS	Illumina GAIIx	Phase_I	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	3428_3429	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	1066			Interaction with TP53.		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Frame_Shift_Ins	INS	ENST00000369558.1	37	c.3196_3197insC	CCDS867.1																																																																																				0.614	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		8	475						8	475	---	---	---	---
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:114523958_114523959insC	ENST00000320334.4	+	3	862_863	c.788_789insC	c.(787-792)atccccfs	p.IP263fs	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000369551.1_Frame_Shift_Ins_p.IP243fs|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.IP243fs	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTACG	0.559																																						ENST00000369551.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(727-729)accfs		olfactomedin-like 3																																				SO:0001589	frameshift_variant	56944				multicellular organismal development	extracellular region		g.chr1:114523958_114523959insC	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.795dupC	1.37:g.114523965_114523965dupC	ENSP00000322273:p.Ile263fs		Somatic				OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs|OLFML3_ENST00000491700.1_3'UTR	p.T243fs			WXS	Illumina GAIIx	Phase_I	Q9NRN5	OLFL3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1016_1017	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	263			Olfactomedin-like.		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Frame_Shift_Ins	INS	ENST00000320334.4	37	c.728_729insC	CCDS870.1																																																																																				0.559	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190		7	260						7	260	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1627-1629)cccfs	p.P543fs	ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.P412fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.P400fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	543					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1624-1629)gaccccfs		integrin, alpha 10																																				SO:0001589	frameshift_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145534121_145534122insC	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1633dupC	1.37:g.145534128_145534128dupC	ENSP00000358310:p.Pro543fs		Somatic				ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs	p.DP542fs	NM_003637.3	NP_003628.2	WXS	Illumina GAIIx	Phase_I	O75578	ITA10_HUMAN			14	1801_1802	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		542					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Frame_Shift_Ins	INS	ENST00000369304.3	37	c.1626_1627insC	CCDS918.1																																																																																				0.554	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		21	469						21	469	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1257)tgccccfs	p.CP418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.CP383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.5																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1252-1254)tccfs		protein inhibitor of activated STAT, 3																																				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584022_145584023insC	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1259dupC	1.37:g.145584028_145584028dupC	ENSP00000376765:p.Cys418fs		Somatic				PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	p.S418fs	NM_006099.3	NP_006090.2	WXS	Illumina GAIIx	Phase_I	Q9Y6X2	PIAS3_HUMAN			10	1343_1344	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		418					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1253_1254insC	CCDS920.2																																																																																				0.500	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		12	952						12	952	---	---	---	---
NBPF20	100288142	broad.mit.edu	37	1	148342471	148342472	+	Splice_Site	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:148342471_148342472insG	ENST00000369202.1	-	5	761_762	c.564_565insC	c.(562-567)cccagg>cccCagg	p.R189fs	NBPF20_ENST00000414710.2_Splice_Site_p.R189fs			Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	189	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.P188P(1)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						CAGTGTTACCTGGGGGCAGATG	0.431																																						ENST00000369202.1																			1	Substitution - coding silent(1)	p.P188P(1)	lung(1)	breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						c.e5+1		neuroblastoma breakpoint family, member 20																																				SO:0001630	splice_region_variant	100288142							g.chr1:148342471_148342472insG		CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.566+1->C	1.37:g.148342476_148342476dupG			Somatic				NBPF20_ENST00000414710.2_Splice_Site_p.PG188_splice	p.PG188_splice			WXS	Illumina GAIIx	Phase_I					5	761_762	-									Splice_Site	INS	ENST00000369202.1	37	c.566_splice																																																																																					0.431	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000100689.2		Frame_Shift_Ins	7	1427						7	1427	---	---	---	---
MTMR11	10903	broad.mit.edu	37	1	149900795	149900796	+	3'UTR	INS	-	-	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:149900795_149900796insA	ENST00000439741.2	-	0	2605_2606				MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000369140.3_Splice_Site|SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11								phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GGGATTGGCCTAAAAAAACCGA	0.381																																						ENST00000369140.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.e17-2		myotubularin related protein 11			,	0,4266		0,0,2133					,	-1.4	0.0			111	3,8251		0,3,4124	no	splice-3,utr-3	MTMR11	NM_181873.3,NM_001145862.1	,	0,3,6257	A1A1,A1R,RR		0.0363,0.0,0.024	,	,		3,12517				SO:0001624	3_prime_UTR_variant	10903						phosphatase activity	g.chr1:149900795_149900796insA	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.*226->T	1.37:g.149900802_149900802dupA			Somatic				MTMR11_ENST00000439741.2_3'UTR|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000406732.3_3'UTR		NM_181873.3	NP_870988.2	WXS	Illumina GAIIx	Phase_I	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		17	2074	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)							B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Splice_Site	INS	ENST00000439741.2	37		CCDS53360.1																																																																																				0.381	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		7	273						7	273	---	---	---	---
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G	rs548049340		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)ccafs	p.P19fs	RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.P19fs|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.P19fs|RP11-126K1.6_ENST00000455503.1_RNA|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.P19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554																																						ENST00000290524.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(55-57)cggfs		regulatory factor X, 5 (influences HLA class II expression)																																				SO:0001589	frameshift_variant	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151318740_151318741insG		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.57dupC	1.37:g.151318747_151318747dupG	ENSP00000290524:p.Pro19fs		Somatic				RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs	p.R19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	WXS	Illumina GAIIx	Phase_I	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		3	234_235	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		19					B7Z848|D3DV19|E9PFU4|Q5VWC3	Frame_Shift_Ins	INS	ENST00000290524.4	37	c.56_57insC	CCDS994.1																																																																																				0.554	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		13	354						13	354	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G	rs200778148		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(424-426)gggfs	p.G142fs	HAX1_ENST00000483970.2_Frame_Shift_Ins_p.G150fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.G94fs|HAX1_ENST00000532105.1_Frame_Shift_Ins_p.G14fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	142	Involved in HCLS1 binding.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(421-426)ttggggfs		HCLS1 associated protein X-1																																				SO:0001589	frameshift_variant	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154246356_154246357insG	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.430dupG	1.37:g.154246363_154246363dupG	ENSP00000329002:p.Gly142fs		Somatic				HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs|HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs	p.LG141fs	NM_006118.3	NP_006109.2	WXS	Illumina GAIIx	Phase_I	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		3	636_637	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		141		F -> L (in SCN3; mild form).	Involved in HCLS1 binding.		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Frame_Shift_Ins	INS	ENST00000328703.7	37	c.423_424insG	CCDS1064.1																																																																																				0.554	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		15	278						15	278	---	---	---	---
TDRD10	126668	broad.mit.edu	37	1	154493907	154493908	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:154493907_154493908insC	ENST00000368480.3	+	6	406_407	c.321_322insC	c.(322-324)cccfs	p.P108fs	TDRD10_ENST00000368482.4_Frame_Shift_Ins_p.P108fs|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	108							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAAGCAAAAGGCCCCCCAAGAG	0.52																																						ENST00000368482.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(319-324)agccccfs		tudor domain containing 10																																				SO:0001589	frameshift_variant	126668						nucleotide binding|RNA binding	g.chr1:154493907_154493908insC	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.327dupC	1.37:g.154493913_154493913dupC	ENSP00000357465:p.Pro108fs		Somatic				TDRD10_ENST00000368480.3_Frame_Shift_Ins_p.SP107fs|TDRD10_ENST00000479937.1_3'UTR	p.SP107fs	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	WXS	Illumina GAIIx	Phase_I	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	1159_1160	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		107			RRM.		A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Frame_Shift_Ins	INS	ENST00000368480.3	37	c.321_322insC	CCDS41406.1																																																																																				0.520	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		13	521						13	521	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155491185	155491186	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:155491185_155491186insT	ENST00000368346.3	-	2	764_765	c.125_126insA	c.(124-126)aacfs	p.N42fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	42					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTCCTTTGTGTTTTTTTCTAG	0.431																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(124-126)aacfs		ash1 (absent, small, or homeotic)-like (Drosophila)																																				SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155491185_155491186insT	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.126dupA	1.37:g.155491192_155491192dupT	ENSP00000357330:p.Asn42fs		Somatic				ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs	p.N42fs			WXS	Illumina GAIIx	Phase_I	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		2	764_765	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		42					Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Ins	INS	ENST00000368346.3	37	c.125_126insA																																																																																					0.431	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		14	1489						14	1489	---	---	---	---
BCAN	63827	broad.mit.edu	37	1	156626159	156626160	+	Frame_Shift_Ins	INS	-	-	G	rs371096258|rs571106745		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:156626159_156626160insG	ENST00000329117.5	+	9	2364_2365	c.2028_2029insG	c.(2029-2031)gggfs	p.G677fs	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	677	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGCCTGGCTATGGGGGGGACCT	0.624																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(2026-2031)taggggfs		brevican																																				SO:0001589	frameshift_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156626159_156626160insG	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2035dupG	1.37:g.156626166_156626166dupG	ENSP00000331210:p.Gly677fs		Somatic				RP11-284F21.7_ENST00000448869.1_RNA	p.*G676fs	NM_021948.4	NP_068767.3	WXS	Illumina GAIIx	Phase_I	Q96GW7	PGCB_HUMAN			9	2364_2365	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		676			EGF-like.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Frame_Shift_Ins	INS	ENST00000329117.5	37	c.2028_2029insG	CCDS1149.1																																																																																				0.624	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		17	725						17	725	---	---	---	---
NES	10763	broad.mit.edu	37	1	156642803	156642804	+	Frame_Shift_Ins	INS	-	-	G	rs372020167		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:156642803_156642804insG	ENST00000368223.3	-	4	1308_1309	c.1176_1177insC	c.(1174-1179)cccacafs	p.T393fs		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	393	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTGAGGTGTGGGGGGGATGG	0.594																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(1174-1179)cccaccfs		nestin																																				SO:0001589	frameshift_variant	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642803_156642804insG	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1177dupC	1.37:g.156642810_156642810dupG	ENSP00000357206:p.Thr393fs		Somatic					p.T393fs	NM_006617.1	NP_006608.1	WXS	Illumina GAIIx	Phase_I	P48681	NEST_HUMAN			4	1308_1309	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		393			Tail.		O00552|Q3LIF5|Q5SYZ6	Frame_Shift_Ins	INS	ENST00000368223.3	37	c.1176_1177insC	CCDS1151.1																																																																																				0.594	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		7	155						7	155	---	---	---	---
ISG20L2	81875	broad.mit.edu	37	1	156694022	156694023	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:156694022_156694023insG	ENST00000313146.6	-	2	1647_1648	c.865_866insC	c.(865-867)ctcfs	p.L289fs	ISG20L2_ENST00000472824.2_5'UTR|ISG20L2_ENST00000368219.1_Frame_Shift_Ins_p.L289fs	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	289	Exonuclease.				ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCGGTTGAGGGGGGGGATA	0.559																																						ENST00000313146.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(865-867)caafs		interferon stimulated exonuclease gene 20kDa-like 2																																				SO:0001589	frameshift_variant	81875				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding	g.chr1:156694022_156694023insG	AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.866dupC	1.37:g.156694030_156694030dupG	ENSP00000323424:p.Leu289fs		Somatic				ISG20L2_ENST00000472824.1_5'UTR|ISG20L2_ENST00000368219.1_Frame_Shift_Ins_p.Q289fs	p.Q289fs	NM_030980.1	NP_112242.1	WXS	Illumina GAIIx	Phase_I	Q9H9L3	I20L2_HUMAN			2	1647_1648	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		289			Exonuclease.		D3DVC6|Q64KA2	Frame_Shift_Ins	INS	ENST00000313146.6	37	c.865_866insC	CCDS1153.1																																																																																				0.559	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980		23	275						23	275	---	---	---	---
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)catfs	p.H18fs	MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.H18fs|MRPL24_ENST00000478899.1_5'Flank			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574																																						ENST00000368211.4																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(52-54)ttafs		mitochondrial ribosomal protein L24																																				SO:0001589	frameshift_variant	79590				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr1:156708444_156708445insG	AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.53dupC	1.37:g.156708451_156708451dupG	ENSP00000354525:p.His18fs		Somatic				MRPL24_ENST00000361531.2_Frame_Shift_Ins_p.L18fs	p.L18fs	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	WXS	Illumina GAIIx	Phase_I	Q96A35	RM24_HUMAN			2	190_191	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		18					D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Frame_Shift_Ins	INS	ENST00000361531.2	37	c.52_53insC	CCDS1155.1																																																																																				0.574	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729		14	318						14	318	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159904586	159904587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:159904586_159904587insG	ENST00000368094.1	-	7	896_897	c.699_700insC	c.(697-702)cccaagfs	p.K234fs	IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.K234fs|IGSF9_ENST00000493195.1_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	234	Ig-like 3.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCTGTTCTTGGGGGGCACCA	0.569																																						ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(697-702)ccagaafs		immunoglobulin superfamily, member 9																																				SO:0001589	frameshift_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159904586_159904587insG	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.700dupC	1.37:g.159904592_159904592dupG	ENSP00000357073:p.Lys234fs		Somatic				IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.E234fs	p.E234fs	NM_001135050.1	NP_001128522.1	WXS	Illumina GAIIx	Phase_I	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	896_897	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	234			Ig-like 3.			Frame_Shift_Ins	INS	ENST00000368094.1	37	c.699_700insC	CCDS44254.1																																																																																				0.569	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		15	476						15	476	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175096158	175096159	+	Frame_Shift_Ins	INS	-	-	C	rs59588723	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:175096158_175096159insC	ENST00000239462.4	+	13	3095_3096	c.2982_2983insC	c.(2983-2985)cccfs	p.P995fs		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	995	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGACCTGGACGCCCCCCTCTGC	0.505																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(2980-2985)acccccfs		tenascin N																																				SO:0001589	frameshift_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175096158_175096159insC	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2988dupC	1.37:g.175096164_175096164dupC	ENSP00000239462:p.Pro995fs		Somatic					p.TP994fs	NM_022093.1	NP_071376.1	WXS	Illumina GAIIx	Phase_I	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	13	3095_3096	+		Breast(1374;0.000962)	994			Fibronectin type-III 9.		B9EGP3|Q5R360	Frame_Shift_Ins	INS	ENST00000239462.4	37	c.2982_2983insC	CCDS30943.1																																																																																				0.505	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		7	474						7	474	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176563963	176563964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:176563963_176563964insG	ENST00000367662.3	+	3	2387_2388	c.1223_1224insG	c.(1222-1227)ctggggfs	p.LG408fs	PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.LG408fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	408					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L408fs*49(2)|p.L408L(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTTTGCTCCTGGGGGGAGACA	0.574																																						ENST00000367662.3																			4	Deletion - Frameshift(2)|Substitution - coding silent(2)	p.L408fs*49(2)|p.L408L(2)	lung(4)	NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(1222-1224)cggfs		pappalysin 2																																				SO:0001589	frameshift_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176563963_176563964insG	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1229dupG	1.37:g.176563969_176563969dupG	ENSP00000356634:p.Leu408fs		Somatic				PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.R408fs	p.R408fs	NM_020318.2	NP_064714.2	WXS	Illumina GAIIx	Phase_I	Q9BXP8	PAPP2_HUMAN			3	2387_2388	+			408					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Frame_Shift_Ins	INS	ENST00000367662.3	37	c.1223_1224insG	CCDS41438.1																																																																																				0.574	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			7	580						7	580	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181549749	181549750	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:181549749_181549750insC	ENST00000367573.2	+	6	788_789	c.788_789insC	c.(787-792)gaccccfs	p.DP263fs	CACNA1E_ENST00000526775.1_Frame_Shift_Ins_p.DP263fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.DP263fs|CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.DP214fs|CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.DP214fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.DP263fs	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	263					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGGATTTGACCCCCCTCACC	0.505																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(787-789)gccfs		calcium channel, voltage-dependent, R type, alpha 1E subunit																																				SO:0001589	frameshift_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181549749_181549750insC	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.794dupC	1.37:g.181549755_181549755dupC	ENSP00000356545:p.Asp263fs		Somatic				CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.A263fs	p.A263fs	NM_001205294.1	NP_001192223.1	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			6	953_954	+			263					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Ins	INS	ENST00000367573.2	37	c.788_789insC	CCDS55664.1																																																																																				0.505	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		8	1031						8	1031	---	---	---	---
SWT1	54823	broad.mit.edu	37	1	185171842	185171844	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:185171842_185171844delAAG	ENST00000367500.4	+	11	1745_1747	c.1580_1582delAAG	c.(1579-1584)aaagaa>aaa	p.E529del	SWT1_ENST00000367501.3_In_Frame_Del_p.E529del	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	529										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TCACTCAGTAAAGAAGAATTGAG	0.365																																						ENST00000367500.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(1579-1584)aaa>a		SWT1 RNA endoribonuclease homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	54823							g.chr1:185171842_185171844delAAG	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1580_1582delAAG	1.37:g.185171845_185171847delAAG	ENSP00000356470:p.Glu529del		Somatic				SWT1_ENST00000367501.3_In_Frame_Del_p.KE527del	p.KE527del	NM_017673.6	NP_060143.4	WXS	Illumina GAIIx	Phase_I	Q5T5J6	SWT1_HUMAN			11	1745_1747	+			527					Q8NEK9|Q9BZQ7|Q9NXQ0	In_Frame_Del	DEL	ENST00000367500.4	37	c.1580_1582delAAG	CCDS1367.1																																																																																				0.365	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		7	66						7	66	---	---	---	---
C1orf106	55765	broad.mit.edu	37	1	200880644	200880647	+	Frame_Shift_Del	DEL	CACT	CACT	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:200880644_200880647delCACT	ENST00000367342.4	+	9	1478_1481	c.1278_1281delCACT	c.(1276-1281)cccactfs	p.PT426fs	C1orf106_ENST00000413687.2_Frame_Shift_Del_p.PT341fs	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	426										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCCGCCGCCCCACTCACTACACGG	0.667																																						ENST00000367342.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1276-1281)ccfs		chromosome 1 open reading frame 106																																				SO:0001589	frameshift_variant	55765							g.chr1:200880644_200880647delCACT	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1278_1281delCACT	1.37:g.200880648_200880651delCACT	ENSP00000356311:p.Pro426fs		Somatic				C1orf106_ENST00000413687.2_Frame_Shift_Del_p.PT341fs	p.PT426fs	NM_018265.3	NP_060735.3	WXS	Illumina GAIIx	Phase_I	Q3KP66	CA106_HUMAN			9	1478_1481	+			426					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Frame_Shift_Del	DEL	ENST00000367342.4	37	c.1278_1281delCACT																																																																																					0.667	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		56	234						56	234	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)gggaggfs	p.R584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.R584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1747-1752)ggggtafs		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)																																			SO:0001589	frameshift_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046125_201046126insC	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1750dupG	1.37:g.201046131_201046131dupC	ENSP00000355192:p.Arg584fs		Somatic				CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	p.V584fs	NM_000069.2	NP_000060.2	WXS	Illumina GAIIx	Phase_I	Q13698	CAC1S_HUMAN			12	1975_1976	-			584					A4IF51|B1ALM2|Q12896|Q13934	Frame_Shift_Ins	INS	ENST00000362061.3	37	c.1749_1750insG	CCDS1407.1																																																																																				0.574	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		9	472						9	472	---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4504-4506)cccfs	p.P1502fs	NAV1_ENST00000367302.1_Frame_Shift_Ins_p.P1455fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.P1108fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.P1499fs|MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.P1442fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.P1494fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1502					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGATGCAGAGCCCCCCGAGAT	0.525																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(4501-4506)gaccccfs		neuron navigator 1																																				SO:0001589	frameshift_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201779175_201779176insC	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4509dupC	1.37:g.201779181_201779181dupC	ENSP00000356265:p.Pro1502fs		Somatic				NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs	p.DP1501fs	NM_020443.4	NP_065176.3	WXS	Illumina GAIIx	Phase_I	Q8NEY1	NAV1_HUMAN			23	4923_4924	+			1501					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Frame_Shift_Ins	INS	ENST00000367296.4	37	c.4503_4504insC	CCDS1414.2																																																																																				0.525	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		8	392						8	392	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-258)atccccfs	p.IP85fs	ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.IP85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.48																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(253-255)accfs		ATPase, Ca++ transporting, plasma membrane 4																																				SO:0001589	frameshift_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203667345_203667346insC	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.261dupC	1.37:g.203667352_203667352dupC	ENSP00000350310:p.Ile85fs		Somatic				ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs	p.T85fs	NM_001684.4	NP_001675.3	WXS	Illumina GAIIx	Phase_I	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	1377_1378	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		85					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Frame_Shift_Ins	INS	ENST00000357681.5	37	c.254_255insC	CCDS1440.1																																																																																				0.480	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		10	272						10	272	---	---	---	---
GOLT1A	127845	broad.mit.edu	37	1	204170835	204170836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:204170835_204170836insC	ENST00000308302.3	-	3	406_407	c.221_222insG	c.(220-222)ggtfs	p.G74fs	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A											kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CGATAACCACACCCCCCAGGAG	0.545																																						ENST00000308302.3																			0				kidney(1)|lung(2)|urinary_tract(1)	4						c.(220-222)ggtfs		golgi transport 1A																																				SO:0001589	frameshift_variant	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170835_204170836insC	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"""golgi transport 1 homolog A (S. cerevisiae)"""			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.222dupG	1.37:g.204170841_204170841dupC	ENSP00000308535:p.Gly74fs		Somatic					p.G74fs	NM_198447.1	NP_940849.1	WXS	Illumina GAIIx	Phase_I	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	406_407	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		74						Frame_Shift_Ins	INS	ENST00000308302.3	37	c.221_222insG	CCDS1443.1																																																																																				0.545	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		13	698						13	698	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:207642043_207642044insC	ENST00000367058.3	+	3	806_807	c.617_618insC	c.(616-621)gtccccfs	p.VP206fs	CR2_ENST00000367057.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.VP206fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396																																						ENST00000367057.3																			1	Deletion - Frameshift(1)	p.T209fs*10(1)	breast(1)	NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(616-618)gccfs		complement component (3d/Epstein Barr virus) receptor 2																																				SO:0001589	frameshift_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207642043_207642044insC	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.624dupC	1.37:g.207642050_207642050dupC	ENSP00000356025:p.Val206fs		Somatic				CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR	p.A206fs	NM_001006658.2	NP_001006659.1	WXS	Illumina GAIIx	Phase_I	P20023	CR2_HUMAN			3	806_807	+			206			Sushi 3.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Ins	INS	ENST00000367058.3	37	c.617_618insC	CCDS1478.1																																																																																				0.396	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		10	488						10	488	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:232650637_232650638insG	ENST00000366630.1	-	2	806_807	c.448_449insC	c.(448-450)caafs	p.Q150fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.Q150fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	150					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGTCCTCTTTGGGGGGAATGG	0.49																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(448-450)aagfs		signal-induced proliferation-associated 1 like 2																																				SO:0001589	frameshift_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650637_232650638insG	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.449dupC	1.37:g.232650643_232650643dupG	ENSP00000355589:p.Gln150fs		Somatic				SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs	p.K150fs			WXS	Illumina GAIIx	Phase_I	Q9P2F8	SI1L2_HUMAN			2	806_807	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	150					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Frame_Shift_Ins	INS	ENST00000366630.1	37	c.448_449insC	CCDS41474.1																																																																																				0.490	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		8	670						8	670	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40366704	40366705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:40366704_40366705insG	ENST00000403092.1	-	10	2414_2415	c.2381_2382insC	c.(2380-2382)cctfs	p.P794fs	SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.P794fs|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.P789fs|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.P758fs|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.P758fs|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.P789fs|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000406785.2_Frame_Shift_Ins_p.P758fs|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.P758fs|SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.P786fs|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.P758fs			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	794					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTATTCAGTAGGGGGGACGAA	0.515																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(2272-2274)cacfs		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)																																			SO:0001589	frameshift_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40366704_40366705insG		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2382dupC	2.37:g.40366710_40366710dupG	ENSP00000384763:p.Pro794fs		Somatic				SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.H789fs|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.H786fs|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.H789fs	p.H758fs			WXS	Illumina GAIIx	Phase_I	P32418	NAC1_HUMAN			7	2462_2463	-			794					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Frame_Shift_Ins	INS	ENST00000403092.1	37	c.2273_2274insC	CCDS1806.1																																																																																				0.515	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		10	427						10	427	---	---	---	---
FBXO48	554251	broad.mit.edu	37	2	68691369	68691370	+	Frame_Shift_Ins	INS	-	-	C	rs36078393		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:68691369_68691370insC	ENST00000377957.3	-	4	846_847	c.439_440insG	c.(439-441)gaafs	p.E147fs		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	147										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TTCTAGAATTTCCCCCCATGTA	0.386																																						ENST00000377957.2																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.(439-441)aatfs		F-box protein 48																																				SO:0001589	frameshift_variant	554251							g.chr2:68691369_68691370insC	BC089423	CCDS33213.1	2p13.3	2011-03-09			ENSG00000204923	ENSG00000204923		"""F-boxes /  ""other"""""	33857	protein-coding gene	gene with protein product							Standard	XM_005264407		Approved		uc002seo.3	Q5FWF7	OTTHUMG00000152585	ENST00000377957.3:c.440dupG	2.37:g.68691375_68691375dupC	ENSP00000367193:p.Glu147fs		Somatic					p.N147fs	NM_001024680.1	NP_001019851.1	WXS	Illumina GAIIx	Phase_I	Q5FWF7	FBX48_HUMAN			4	846_847	-			147						Frame_Shift_Ins	INS	ENST00000377957.3	37	c.439_440insG	CCDS33213.1																																																																																				0.386	FBXO48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326900.2	NM_001024680		8	566						8	566	---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69409763	69409764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:69409763_69409764insC	ENST00000303714.4	+	16	1646_1647	c.1324_1325insC	c.(1324-1326)tccfs	p.S442fs	RNA5SP96_ENST00000516041.1_RNA|RNU6-1216P_ENST00000362590.2_RNA	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	442					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCGGCCTTCTTCCCCCCGGAAG	0.421									Familial Infantile Hemangioma																													ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1324-1326)cccfs		anthrax toxin receptor 1																																				SO:0001589	frameshift_variant	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69409763_69409764insC	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1330dupC	2.37:g.69409769_69409769dupC	ENSP00000301945:p.Ser442fs		Somatic					p.P442fs	NM_032208.2	NP_115584.1	WXS	Illumina GAIIx	Phase_I	Q9H6X2	ANTR1_HUMAN			16	1646_1647	+			442					A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Frame_Shift_Ins	INS	ENST00000303714.4	37	c.1324_1325insC	CCDS1892.1																																																																																				0.421	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		8	420						8	420	---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74480126	74480127	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:74480126_74480127insG	ENST00000377634.4	-	15	1641_1642	c.1242_1243insC	c.(1240-1245)cccaagfs	p.K415fs	SLC4A5_ENST00000357822.5_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000346834.4_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000394019.2_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000358683.4_Frame_Shift_Ins_p.K351fs|SLC4A5_ENST00000377632.1_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000359484.4_Frame_Shift_Ins_p.K351fs|SLC4A5_ENST00000423644.1_Frame_Shift_Ins_p.K415fs|RP11-287D1.3_ENST00000451608.2_3'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGCACCTTCTTGGGGGGCTCAA	0.475																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1240-1245)ccagaafs		solute carrier family 4 (sodium bicarbonate cotransporter), member 5																																				SO:0001589	frameshift_variant	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74480126_74480127insG	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1243dupC	2.37:g.74480132_74480132dupG	ENSP00000366861:p.Lys415fs		Somatic				SLC4A5_ENST00000377632.1_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000377634.4_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000359484.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000358683.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000357822.5_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000346834.4_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Frame_Shift_Ins_p.E415fs	p.E415fs	NM_133478.2	NP_597812.1	WXS	Illumina GAIIx	Phase_I	Q9BY07	S4A5_HUMAN			15	1639_1640	-			415						Frame_Shift_Ins	INS	ENST00000377634.4	37	c.1242_1243insC	CCDS1936.1																																																																																				0.475	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			8	243						8	243	---	---	---	---
PCGF1	84759	broad.mit.edu	37	2	74732899	74732900	+	Splice_Site	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:74732899_74732900insG	ENST00000233630.6	-	6	1442		c.e6-2		LBX2-AS1_ENST00000603175.1_RNA|LBX2_ENST00000550249.1_5'Flank|PCGF1_ENST00000480844.2_Splice_Site|LBX2_ENST00000341396.2_5'Flank|LBX2_ENST00000460508.3_5'Flank|LBX2-AS1_ENST00000548978.2_RNA	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1						histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TTGCCAGAACTGGGGGGAAATA	0.53																																						ENST00000233630.6																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						c.e6-2		polycomb group ring finger 1																																				SO:0001630	splice_region_variant	84759				histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding	g.chr2:74732899_74732900insG	AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.531-2->C	2.37:g.74732905_74732905dupG			Somatic				PCGF1_ENST00000480844.2_Splice_Site		NM_032673.2	NP_116062.2	WXS	Illumina GAIIx	Phase_I	Q9BSM1	PCGF1_HUMAN			6	1442	-								Q7Z506	Splice_Site	INS	ENST00000233630.6	37		CCDS1946.2																																																																																				0.530	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1	NM_032673	Intron	7	594						7	594	---	---	---	---
TCF7L1	83439	broad.mit.edu	37	2	85536195	85536196	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:85536195_85536196insC	ENST00000282111.3	+	12	1652_1653	c.1377_1378insC	c.(1378-1380)cccfs	p.P460fs		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	460					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TTCAGTACCTGCCCCCCGAGAA	0.614																																						ENST00000282111.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(1375-1380)ctccccfs		transcription factor 7-like 1 (T-cell specific, HMG-box)																																				SO:0001589	frameshift_variant	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85536195_85536196insC	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.1383dupC	2.37:g.85536201_85536201dupC	ENSP00000282111:p.Pro460fs		Somatic					p.LP459fs	NM_031283.2	NP_112573.1	WXS	Illumina GAIIx	Phase_I	Q9HCS4	TF7L1_HUMAN			12	1652_1653	+			459					Q53R97|Q6PD70|Q9NP00	Frame_Shift_Ins	INS	ENST00000282111.3	37	c.1377_1378insC	CCDS1971.1																																																																																				0.614	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		11	297						11	297	---	---	---	---
LINC00152	112597	broad.mit.edu	37	2	87865524	87865525	+	lincRNA	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:87865524_87865525insC	ENST00000409054.1	+	0	278					NR_015395.1				long intergenic non-protein coding RNA 152																		AAAATAAATTTCCCCCCAGAAC	0.455																																						ENST00000409054.1																			0																																																			112597							g.chr2:87865524_87865525insC	BC009508		2p11.2	2014-02-14	2011-08-11	2011-08-11	ENSG00000222041	ENSG00000222041		"""Long non-coding RNAs"""	28717	non-coding RNA	RNA, long non-coding			"""chromosome 2 open reading frame 59"", ""non-protein coding RNA 152"""	C2orf59, NCRNA00152		24523021, 23801869, 22689435, 24036268	Standard	NR_024204		Approved	MGC4677	uc002ssk.4		OTTHUMG00000130273		2.37:g.87865530_87865530dupC			Somatic						NR_015395.1		WXS	Illumina GAIIx	Phase_I					0	278	+									RNA	INS	ENST00000409054.1	37																																																																																						0.455	LINC00152-005	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000330387.3	XR_042051		8	511						8	511	---	---	---	---
EDAR	10913	broad.mit.edu	37	2	109539836	109539837	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:109539836_109539837insG	ENST00000258443.2	-	5	859_860	c.429_430insC	c.(427-432)cccaacfs	p.N144fs	EDAR_ENST00000376651.1_Frame_Shift_Ins_p.N144fs|EDAR_ENST00000409271.1_Frame_Shift_Ins_p.N144fs	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	144					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TCCTTGGTGTTGGGGGGTGCCA	0.535																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(427-432)ccacacfs		ectodysplasin A receptor																																				SO:0001589	frameshift_variant	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109539836_109539837insG	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.430dupC	2.37:g.109539842_109539842dupG	ENSP00000258443:p.Asn144fs		Somatic				EDAR_ENST00000258443.2_Frame_Shift_Ins_p.H144fs|EDAR_ENST00000376651.1_Frame_Shift_Ins_p.H144fs	p.H144fs			WXS	Illumina GAIIx	Phase_I	Q9UNE0	EDAR_HUMAN			6	872_873	-			144					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Frame_Shift_Ins	INS	ENST00000258443.2	37	c.429_430insC	CCDS2081.1																																																																																				0.535	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			12	482						12	482	---	---	---	---
UGGT1	56886	broad.mit.edu	37	2	128867246	128867247	+	Frame_Shift_Ins	INS	-	-	T	rs138042550		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:128867246_128867247insT	ENST00000259253.6	+	5	494_495	c.447_448insT	c.(448-450)tttfs	p.F150fs	UGGT1_ENST00000375990.3_Frame_Shift_Ins_p.F126fs	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	150					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GATGTAATTCGTTTTTTTCAGT	0.371																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(373-378)tcttttfs		UDP-glucose glycoprotein glucosyltransferase 1																																				SO:0001589	frameshift_variant	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128867246_128867247insT	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.454dupT	2.37:g.128867253_128867253dupT	ENSP00000259253:p.Phe150fs		Somatic				UGGT1_ENST00000259253.6_Frame_Shift_Ins_p.SF149fs	p.SF125fs			WXS	Illumina GAIIx	Phase_I	Q9NYU2	UGGG1_HUMAN			5	778_779	+			149					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Frame_Shift_Ins	INS	ENST00000259253.6	37	c.375_376insT	CCDS2154.1																																																																																				0.371	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		7	353						7	353	---	---	---	---
VIL1	7429	broad.mit.edu	37	2	219301230	219301231	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:219301230_219301231insC	ENST00000248444.5	+	16	1940_1941	c.1852_1853insC	c.(1852-1854)accfs	p.T618fs	VIL1_ENST00000392114.2_Frame_Shift_Ins_p.T307fs	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	618	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGGTCATCACCCCCCGGCTC	0.5																																						ENST00000248444.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1852-1854)cccfs		villin 1																																				SO:0001589	frameshift_variant	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219301230_219301231insC	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1858dupC	2.37:g.219301236_219301236dupC	ENSP00000248444:p.Thr618fs		Somatic				VIL1_ENST00000392114.2_Frame_Shift_Ins_p.P307fs	p.P618fs	NM_007127.2	NP_009058.2	WXS	Illumina GAIIx	Phase_I	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	16	1940_1941	+		Renal(207;0.0474)	618			Core.		B2R9A7|Q53S11|Q96AC8	Frame_Shift_Ins	INS	ENST00000248444.5	37	c.1852_1853insC	CCDS2417.1																																																																																				0.500	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		9	550						9	550	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-942)tgccccfs	p.CP313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TCAGTGCCATGCCCCCCCAAGG	0.619																																						ENST00000272907.6																			0											c.(937-939)tccfs		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2																																				SO:0001589	frameshift_variant	57624							g.chr2:226447071_226447072insC	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.945dupC	2.37:g.226447078_226447078dupC	ENSP00000272907:p.Cys313fs		Somatic				NYAP2_ENST00000409269.2_Intron	p.S313fs	NM_020864.1	NP_065915.1	WXS	Illumina GAIIx	Phase_I	Q9P242	K1486_HUMAN			4	1351_1352	+			313			Pro-rich.		A2RRN4|Q96NL2	Frame_Shift_Ins	INS	ENST00000272907.6	37	c.938_939insC	CCDS46529.1																																																																																				0.619	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		7	132						7	132	---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C	rs373650820		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)gccfs	p.A404fs	INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.A168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.A403fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.A168fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(1210-1212)cccfs		inositol polyphosphate-5-phosphatase, 145kDa																																				SO:0001589	frameshift_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234072358_234072359insC	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1217dupC	2.37:g.234072365_234072365dupC	ENSP00000352575:p.Ala404fs		Somatic				INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs	p.P404fs			WXS	Illumina GAIIx	Phase_I	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	14	1210_1211	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	416					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Frame_Shift_Ins	INS	ENST00000359570.5	37	c.1210_1211insC																																																																																					0.535	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		33	436						33	436	---	---	---	---
DGKD	8527	broad.mit.edu	37	2	234365951	234365952	+	Frame_Shift_Ins	INS	-	-	G	rs35538077		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:234365951_234365952insG	ENST00000264057.2	+	21	2569_2570	c.2557_2558insG	c.(2557-2559)tggfs	p.W853fs	DGKD_ENST00000409813.3_Frame_Shift_Ins_p.W809fs	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	853					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AACCAACTTCTGGGGGGGTACC	0.579																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(2557-2559)gggfs		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234365951_234365952insG	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2564dupG	2.37:g.234365958_234365958dupG	ENSP00000264057:p.Trp853fs		Somatic				DGKD_ENST00000409813.3_Frame_Shift_Ins_p.G809fs	p.G853fs	NM_152879.2	NP_690618.2	WXS	Illumina GAIIx	Phase_I	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	21	2569_2570	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	853					Q14158|Q6PK55|Q8NG53	Frame_Shift_Ins	INS	ENST00000264057.2	37	c.2557_2558insG	CCDS2504.1																																																																																				0.579	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		9	187						9	187	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cacfs	p.H202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.H242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.H202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		AATCACCAGGTGGGGGGGCAGG	0.535																																						ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(604-606)cctfs		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)																																			SO:0001589	frameshift_variant	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240954220_240954221insG	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.605dupC	2.37:g.240954227_240954227dupG	ENSP00000252711:p.His202fs		Somatic				NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	p.P202fs	NM_004544.3	NP_004535.1	WXS	Illumina GAIIx	Phase_I	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	5	704_705	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	202					Q8WXC9	Frame_Shift_Ins	INS	ENST00000252711.2	37	c.604_605insC	CCDS2531.1																																																																																				0.535	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		10	357						10	357	---	---	---	---
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs375350046|rs369823368|rs146316187		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:10088407_10088410delAGTA	ENST00000419585.1	+	15	1439	c.1278delAGTA	c.(1276-1278)tta>tt	p.L426fs	FANCD2_ENST00000383807.1_Splice_Site_p.L426fs|FANCD2_ENST00000383806.1_Splice_Site_p.L426fs|FANCD2_ENST00000287647.3_Splice_Site_p.L426fs			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.e15+1	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2																																				SO:0001630	splice_region_variant	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10088407_10088410delAGTA	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1278+1AGTA>-	3.37:g.10088407_10088410delAGTA			Somatic				FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice	p.426_splice	NM_033084.3	NP_149075.2	WXS	Illumina GAIIx	Phase_I	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	15	1371	+			426					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Splice_Site	DEL	ENST00000419585.1	37	c.1278_splice	CCDS33696.1																																																																																				0.358	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		Frame_Shift_Del	22	54						22	54	---	---	---	---
VHL	7428	broad.mit.edu	37	3	10191522	10191525	+	Frame_Shift_Del	DEL	CTGA	CTGA	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:10191522_10191525delCTGA	ENST00000256474.2	+	3	1355_1358	c.515_518delCTGA	c.(514-519)cctgagfs	p.PE172fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Frame_Shift_Del_p.PE131fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	172					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.P172fs*30(4)|p.P172fs*39(2)|p.N174fs*41(1)|p.E173_R176del(1)|p.V170fs*29(1)|p.E173*(1)|p.P172_E173del(1)|p.E173fs*>42(1)|p.E173fs*26(1)|p.K171fs*43(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CTAGTCAAGCCTGAGAATTACAGG	0.525		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"""D, Mis, N, F, S"""	von Hippel-Lindau syndrome gene			"""E, M, O"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""		14	Deletion - Frameshift(10)|Deletion - In frame(2)|Substitution - Nonsense(1)|Insertion - Frameshift(1)	p.P172fs*30(4)|p.P172fs*39(2)|p.N174fs*41(1)|p.E173_R176del(1)|p.V170fs*29(1)|p.E173*(1)|p.P172_E173del(1)|p.E173fs*>42(1)|p.E173fs*26(1)|p.K171fs*43(1)	kidney(14)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CD004318|CM982011	VHL	D|M		c.(514-519)cgfs		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10191522_10191525delCTGA	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.515_518delCTGA	3.37:g.10191522_10191525delCTGA	ENSP00000256474:p.Pro172fs		Somatic				VHL_ENST00000345392.2_Frame_Shift_Del_p.PE131fs|VHL_ENST00000477538.1_3'UTR	p.PE172fs	NM_000551.3	NP_000542.1	WXS	Illumina GAIIx	Phase_I	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	3	1355_1358	+			172					B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	c.515_518delCTGA	CCDS2597.1																																																																																				0.525	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		20	78						20	78	---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42679035	42679036	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:42679035_42679036insC	ENST00000232978.8	+	13	2027_2028	c.1839_1840insC	c.(1840-1842)cccfs	p.P614fs	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	614					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGAGTGACAGTCCCCCCCCTTC	0.421																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(1837-1842)agccccfs		natural killer-tumor recognition sequence																																				SO:0001589	frameshift_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42679035_42679036insC		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1847dupC	3.37:g.42679043_42679043dupC	ENSP00000232978:p.Pro614fs		Somatic				RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	p.SP613fs	NM_005385.3	NP_005376.2	WXS	Illumina GAIIx	Phase_I	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	2027_2028	+			613						Frame_Shift_Ins	INS	ENST00000232978.8	37	c.1839_1840insC	CCDS2702.1																																																																																				0.421	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		23	243						23	243	---	---	---	---
SETD2	29072	broad.mit.edu	37	3	47125805	47125805	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:47125805delG	ENST00000409792.3	-	12	5507	c.5465delC	c.(5464-5466)ccafs	p.P1822fs	SETD2_ENST00000492397.1_5'Flank	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1822					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTGAATAATTGGAAGTACTTT	0.383			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(5464-5466)cafs		SET domain containing 2							76.0	70.0	72.0					3																	47125805		2203	4300	6503	SO:0001589	frameshift_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47125805delG	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5465delC	3.37:g.47125805delG	ENSP00000386759:p.Pro1822fs		Somatic					p.P1822fs	NM_014159.6	NP_054878.5	WXS	Illumina GAIIx	Phase_I	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	12	5507	-		Acute lymphoblastic leukemia(5;0.0169)	1822					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	37	c.5465delC	CCDS2749.2																																																																																				0.383	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		18	87						18	87	---	---	---	---
BAP1	8314	broad.mit.edu	37	3	52436801	52436803	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:52436801_52436803delCTT	ENST00000460680.1	-	15	2446_2448	c.1975_1977delAAG	c.(1975-1977)aagdel	p.K659del	BAP1_ENST00000296288.5_In_Frame_Del_p.K641del	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCACCTTGAACTTCTTCCTCTTC	0.552			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1				Rec	yes		3	3p21.31-p21.2	8314	"""N, Mis, F, S, O"""	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)			E		"""mesothelioma, uveal melanoma"""	"""uveal melanoma, breast, NSCLC, RCC"""		0				NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1975-1977)del		BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																				SO:0001651	inframe_deletion	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52436801_52436803delCTT	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1975_1977delAAG	3.37:g.52436804_52436806delCTT	ENSP00000417132:p.Lys659del		Somatic				BAP1_ENST00000296288.5_In_Frame_Del_p.K641del	p.K659del	NM_004656.2	NP_004647.1	WXS	Illumina GAIIx	Phase_I	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	15	2446_2448	-			659			Interaction with BRCA1.		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	In_Frame_Del	DEL	ENST00000460680.1	37	c.1975_1977delAAG	CCDS2853.1																																																																																				0.552	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			43	124						43	124	---	---	---	---
IL17RB	55540	broad.mit.edu	37	3	53898813	53898814	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:53898813_53898814insC	ENST00000288167.3	+	11	996_997	c.987_988insC	c.(988-990)cccfs	p.P330fs		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	330					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CCACACTACTGCCCCCCATTAA	0.406																																						ENST00000288167.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13						c.(985-990)ctccccfs		interleukin 17 receptor B																																				SO:0001589	frameshift_variant	55540				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr3:53898813_53898814insC	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.993dupC	3.37:g.53898819_53898819dupC	ENSP00000288167:p.Pro330fs		Somatic					p.LP329fs	NM_018725.3	NP_061195.2	WXS	Illumina GAIIx	Phase_I	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	11	996_997	+			329					Q9BPZ0|Q9NRL4|Q9NRM5	Frame_Shift_Ins	INS	ENST00000288167.3	37	c.987_988insC	CCDS2874.1																																																																																				0.406	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		11	558						11	558	---	---	---	---
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G	rs201949188		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(127-129)gggfs	p.G43fs	KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.G43fs|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.G43fs|KCTD6_ENST00000479470.1_3'UTR	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	43	BTB.				protein homooligomerization (GO:0051260)		ankyrin binding (GO:0030506)			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465																																						ENST00000355076.6																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(124-129)ttggggfs		potassium channel tetramerization domain containing 6																																				SO:0001589	frameshift_variant	200845					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr3:58486771_58486772insG	AK074934	CCDS2891.1	3p21.2	2013-06-20	2013-06-20		ENSG00000168301	ENSG00000168301			22235	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 6"""			21472142	Standard	NM_153331		Approved	MGC27385, KCASH3	uc003dkj.4	Q8NC69	OTTHUMG00000159161	ENST00000355076.6:c.133dupG	3.37:g.58486778_58486778dupG	ENSP00000347188:p.Gly43fs		Somatic				KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR	p.LG42fs	NM_153331.3	NP_699162.3	WXS	Illumina GAIIx	Phase_I	Q8NC69	KCTD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)	2	1109_1110	+			42			BTB.		B3KNI5|Q8NBS6|Q8TCA6	Frame_Shift_Ins	INS	ENST00000355076.6	37	c.126_127insG	CCDS2891.1																																																																																				0.465	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353591.1	NM_153331		7	411						7	411	---	---	---	---
PDIA5	10954	broad.mit.edu	37	3	122869088	122869089	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:122869088_122869089insC	ENST00000316218.7	+	14	1245_1246	c.1150_1151insC	c.(1150-1152)gccfs	p.A384fs	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	384	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.|Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CAGCCCTGAGGCCCCCCCGCCC	0.604																																						ENST00000316218.7																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(1150-1152)cccfs		protein disulfide isomerase family A, member 5				3,4263		0,3,2130						2.4	1.0			51	1,8251		0,1,4125	no	frameshift	PDIA5	NM_006810.3		0,4,6255	A1A1,A1R,RR		0.0121,0.0703,0.032				4,12514				SO:0001589	frameshift_variant	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122869088_122869089insC	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.1157dupC	3.37:g.122869095_122869095dupC	ENSP00000323313:p.Ala384fs		Somatic				PDIA5_ENST00000467157.1_3'UTR	p.P384fs	NM_006810.3	NP_006801.1	WXS	Illumina GAIIx	Phase_I	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	14	1245_1246	+			384			Thioredoxin 2.|Thioredoxin 3.		D3DN95|Q9BV43	Frame_Shift_Ins	INS	ENST00000316218.7	37	c.1150_1151insC	CCDS3020.1																																																																																				0.604	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		9	310						9	310	---	---	---	---
TRH	7200	broad.mit.edu	37	3	129695642	129695643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:129695642_129695643insG	ENST00000302649.3	+	3	839_840	c.312_313insG	c.(313-315)gggfs	p.G105fs	TRH_ENST00000507066.1_Frame_Shift_Ins_p.G101fs	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	105					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						aagaggaagaagggggggCTGT	0.569																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(310-315)gaggggfs		thyrotropin-releasing hormone																																				SO:0001589	frameshift_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695642_129695643insG		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.319dupG	3.37:g.129695649_129695649dupG	ENSP00000303452:p.Gly105fs		Somatic				TRH_ENST00000507066.1_Frame_Shift_Ins_p.EG100fs	p.EG104fs	NM_007117.3	NP_009048.1	WXS	Illumina GAIIx	Phase_I	P20396	TRH_HUMAN			3	839_840	+			104					B2R8R1|Q2TB83	Frame_Shift_Ins	INS	ENST00000302649.3	37	c.312_313insG	CCDS3066.1																																																																																				0.569	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		8	171						8	171	---	---	---	---
TM4SF4	7104	broad.mit.edu	37	3	149192693	149192694	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:149192693_149192694insG	ENST00000305354.4	+	1	933_934	c.29_30insG	c.(28-33)ctggggfs	p.LG10fs		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	10					tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCAGATGCCTGGGGGGGACCC	0.535																																						ENST00000305354.4																			0				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9						c.(28-30)cggfs		transmembrane 4 L six family member 4																																				SO:0001589	frameshift_variant	7104					integral to membrane		g.chr3:149192693_149192694insG		CCDS46932.1	3q25	2005-03-21	2005-03-21		ENSG00000169903	ENSG00000169903			11856	protein-coding gene	gene with protein product		606567	"""transmembrane 4 superfamily member 4"""			7665614	Standard	NM_004617		Approved	il-TMP	uc003exd.2	P48230	OTTHUMG00000159619	ENST00000305354.4:c.36dupG	3.37:g.149192700_149192700dupG	ENSP00000305852:p.Leu10fs		Somatic					p.R10fs	NM_004617.3	NP_004608.1	WXS	Illumina GAIIx	Phase_I	P48230	T4S4_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		1	933_934	+			10					B2RDA4	Frame_Shift_Ins	INS	ENST00000305354.4	37	c.29_30insG	CCDS46932.1																																																																																				0.535	TM4SF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356528.1			7	158						7	158	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151095831	151095832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:151095831_151095832insC	ENST00000474524.1	+	29	4281_4282	c.4243_4244insC	c.(4243-4245)gccfs	p.A1415fs	MED12L_ENST00000273432.4_Frame_Shift_Ins_p.A1275fs|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1415						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGGTTGGTGGCCCCCCTCATC	0.52																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(4243-4245)cccfs		mediator complex subunit 12-like																																				SO:0001589	frameshift_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151095831_151095832insC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4249dupC	3.37:g.151095837_151095837dupC	ENSP00000417235:p.Ala1415fs		Somatic				P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Frame_Shift_Ins_p.P1275fs	p.P1415fs	NM_053002.4	NP_443728.3	WXS	Illumina GAIIx	Phase_I	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		29	4281_4282	+			1415					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Frame_Shift_Ins	INS	ENST00000474524.1	37	c.4243_4244insC	CCDS33876.1																																																																																				0.520	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		11	1030						11	1030	---	---	---	---
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(943-945)gggfs	p.G315fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.G315fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	315										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381																																						ENST00000428432.2																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(940-945)atggggfs		sterile alpha motif domain containing 7																																				SO:0001589	frameshift_variant	344658							g.chr3:169646267_169646268insG	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.948dupG	3.37:g.169646273_169646273dupG	ENSP00000391299:p.Gly315fs		Somatic				SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	p.MG314fs	NM_182610.2	NP_872416.1	WXS	Illumina GAIIx	Phase_I	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		7	1331_1332	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		314						Frame_Shift_Ins	INS	ENST00000428432.2	37	c.942_943insG	CCDS3209.1																																																																																				0.381	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		10	411						10	411	---	---	---	---
LETM1	3954	broad.mit.edu	37	4	1843235	1843236	+	Frame_Shift_Ins	INS	-	-	G	rs559993367		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:1843235_1843236insG	ENST00000302787.2	-	3	728_729	c.432_433insC	c.(430-435)cccgcafs	p.A145fs		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	145					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ACCACCTCTGCGGGGGGGCTGT	0.604																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(430-435)cccagafs		leucine zipper-EF-hand containing transmembrane protein 1																																				SO:0001589	frameshift_variant	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1843235_1843236insG	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.433dupC	4.37:g.1843242_1843242dupG	ENSP00000305653:p.Ala145fs		Somatic					p.R145fs	NM_012318.2	NP_036450.1	WXS	Illumina GAIIx	Phase_I	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		3	728_729	-			145					B4DED2|Q9UF65	Frame_Shift_Ins	INS	ENST00000302787.2	37	c.432_433insC	CCDS3355.1																																																																																				0.604	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			9	122						9	122	---	---	---	---
UGT2B28	54490	broad.mit.edu	37	4	70146673	70146674	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:70146673_70146674insT	ENST00000335568.5	+	1	457_458	c.455_456insT	c.(454-459)gcttttfs	p.AF152fs	UGT2B28_ENST00000511240.1_Frame_Shift_Ins_p.AF152fs	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	152					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						TTTGCAGATGCTTTTTTTCCTT	0.376																																						ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(454-456)gttfs		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)																																			SO:0001589	frameshift_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70146673_70146674insT	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.462dupT	4.37:g.70146680_70146680dupT	ENSP00000334276:p.Ala152fs		Somatic				UGT2B28_ENST00000511240.1_Frame_Shift_Ins_p.V152fs	p.V152fs	NM_053039.1	NP_444267.1	WXS	Illumina GAIIx	Phase_I	Q9BY64	UDB28_HUMAN			1	457_458	+			152					B5BUM0|Q9BY62|Q9BY63	Frame_Shift_Ins	INS	ENST00000335568.5	37	c.455_456insT	CCDS3528.1																																																																																				0.376	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		7	380						7	380	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)caafs	p.Q491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.Q510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1471-1473)agafs		unc-5 homolog C (C. elegans)																																				SO:0001589	frameshift_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96140293_96140294insG	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1472dupC	4.37:g.96140299_96140299dupG	ENSP00000406022:p.Gln491fs		Somatic				UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	p.R491fs	NM_003728.3	NP_003719.3	WXS	Illumina GAIIx	Phase_I	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	9	1819_1820	-		Hepatocellular(203;0.114)	491					Q8IUT0	Frame_Shift_Ins	INS	ENST00000453304.1	37	c.1471_1472insC	CCDS3643.1																																																																																				0.505	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		12	637						12	637	---	---	---	---
GAB1	2549	broad.mit.edu	37	4	144381536	144381537	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:144381536_144381537insC	ENST00000262994.4	+	8	2001_2002	c.1699_1700insC	c.(1699-1701)tccfs	p.S567fs	GAB1_ENST00000262995.4_Frame_Shift_Ins_p.S597fs|GAB1_ENST00000505913.1_Frame_Shift_Ins_p.S464fs	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	567					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GTTTCCCATGTCCCCCCGACCA	0.406																																						ENST00000262995.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1789-1791)cccfs		GRB2-associated binding protein 1																																				SO:0001589	frameshift_variant	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144381536_144381537insC	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1705dupC	4.37:g.144381542_144381542dupC	ENSP00000262994:p.Ser567fs		Somatic				GAB1_ENST00000505913.1_Frame_Shift_Ins_p.P464fs|GAB1_ENST00000262994.4_Frame_Shift_Ins_p.P567fs	p.P597fs	NM_207123.2	NP_997006.1	WXS	Illumina GAIIx	Phase_I	Q13480	GAB1_HUMAN			9	2216_2217	+	all_hematologic(180;0.158)		567					A8K152|Q4W5G2|Q6P1W2	Frame_Shift_Ins	INS	ENST00000262994.4	37	c.1789_1790insC	CCDS3759.1																																																																																				0.406	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039		11	242						11	242	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183609358	183609359	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:183609358_183609359insG	ENST00000511685.1	+	12	2198_2199	c.2075_2076insG	c.(2074-2079)atggggfs	p.MG692fs	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Frame_Shift_Ins_p.MG692fs			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	692	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GGCGTTTGCATGGGGGGGACGT	0.589																																						ENST00000511685.1																			0											c.(2074-2076)aggfs		teneurin transmembrane protein 3																																				SO:0001589	frameshift_variant	55714							g.chr4:183609358_183609359insG	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.2082dupG	4.37:g.183609365_183609365dupG	ENSP00000424226:p.Met692fs		Somatic				TENM3_ENST00000406950.2_Frame_Shift_Ins_p.R692fs|TENM3_ENST00000502950.1_3'UTR	p.R692fs			WXS	Illumina GAIIx	Phase_I					12	2198_2199	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Frame_Shift_Ins	INS	ENST00000511685.1	37	c.2075_2076insG	CCDS47165.1																																																																																				0.589	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			15	373						15	373	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:187558038_187558039insG	ENST00000441802.2	-	5	3881_3882	c.3672_3673insC	c.(3670-3675)cccaaafs	p.K1225fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1225	Cadherin 10. {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						ATGGTTGATTTGGGGGGACTAC	0.361										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.(3670-3675)ccaatcfs		FAT atypical cadherin 1																																				SO:0001589	frameshift_variant	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.chr4:187558038_187558039insG	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.3673dupC	4.37:g.187558044_187558044dupG	ENSP00000406229:p.Lys1225fs	HNSCC(5;0.00058)	Somatic					p.I1225fs	NM_005245.3	NP_005236.2	WXS	Illumina GAIIx	Phase_I	Q14517	FAT1_HUMAN			5	3881_3882	-			1225			Cadherin 10.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.3672_3673insC	CCDS47177.1																																																																																				0.361	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		8	1117						8	1117	---	---	---	---
TRIML2	205860	broad.mit.edu	37	4	189012770	189012771	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:189012770_189012771insG	ENST00000512729.1	-	7	1294_1295	c.920_921insC	c.(919-921)cctfs	p.P307fs	TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	307	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCCTTTTCAGAGGGGGGAAGAC	0.559																																						ENST00000512729.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(919-921)cctfs		tripartite motif family-like 2																																				SO:0001589	frameshift_variant	205860						ligase activity	g.chr4:189012770_189012771insG	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.921dupC	4.37:g.189012776_189012776dupG	ENSP00000422581:p.Pro307fs		Somatic				TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	p.P307fs	NM_173553.1	NP_775824.1	WXS	Illumina GAIIx	Phase_I	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	1294_1295	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	307			B30.2/SPRY.		B7Z6J6	Frame_Shift_Ins	INS	ENST00000512729.1	37	c.920_921insC	CCDS3850.1																																																																																				0.559	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		8	591						8	591	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13766238	13766239	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:13766238_13766239insG	ENST00000265104.4	-	59	10051_10052	c.9947_9948insC	c.(9946-9948)cctfs	p.P3316fs	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3316	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGATGAGGTGAGGGGGGCGGCC	0.53									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(9946-9948)ccafs		dynein, axonemal, heavy chain 5																																				SO:0001589	frameshift_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13766238_13766239insG	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9948dupC	5.37:g.13766244_13766244dupG	ENSP00000265104:p.Pro3316fs		Somatic				DNAH5_ENST00000504001.3_Intron	p.P3316fs	NM_001369.2	NP_001360.1	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			59	10051_10052	-	Lung NSC(4;0.00476)		3316			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Ins	INS	ENST00000265104.4	37	c.9947_9948insC	CCDS3882.1																																																																																				0.530	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		7	517						7	517	---	---	---	---
CDH6	1004	broad.mit.edu	37	5	31305299	31305302	+	Frame_Shift_Del	DEL	AAGA	AAGA	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:31305299_31305302delAAGA	ENST00000265071.2	+	7	1283_1286	c.1018_1021delAAGA	c.(1018-1023)aagaaafs	p.KK340fs	CDH6_ENST00000514738.1_Frame_Shift_Del_p.KK285fs	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	340	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTTTGAAAAGAAGAAAGTGTATAC	0.441																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1018-1023)aafs		cadherin 6, type 2, K-cadherin (fetal kidney)																																				SO:0001589	frameshift_variant	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31305299_31305302delAAGA	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1018_1021delAAGA	5.37:g.31305299_31305302delAAGA	ENSP00000265071:p.Lys340fs		Somatic				CDH6_ENST00000514738.1_Frame_Shift_Del_p.KK285fs	p.KK340fs	NM_004932.3	NP_004923.1	WXS	Illumina GAIIx	Phase_I	P55285	CADH6_HUMAN			7	1283_1286	+			340			Cadherin 3.		A8K5H5|Q9BWS0	Frame_Shift_Del	DEL	ENST00000265071.2	37	c.1018_1021delAAGA	CCDS3894.1																																																																																				0.441	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		25	167						25	167	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:31799656_31799657insG	ENST00000438447.1	+	2	689_690	c.301_302insG	c.(301-303)aggfs	p.R101fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.R101fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	101	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(301-303)gggfs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31799656_31799657insG	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.308dupG	5.37:g.31799663_31799663dupG	ENSP00000402033:p.Arg101fs		Somatic				PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs	p.G101fs			WXS	Illumina GAIIx	Phase_I	O15018	PDZD2_HUMAN			2	689_690	+			101			PDZ 1.		Q9BXD4	Frame_Shift_Ins	INS	ENST00000438447.1	37	c.301_302insG	CCDS34137.1																																																																																				0.574	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			7	184						7	184	---	---	---	---
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(931-933)gggfs	p.G311fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.G311fs|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	311					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGTGTGATTGGGGGGCAGCT	0.52																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(928-933)atggggfs		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36679798_36679799insG		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.936dupG	5.37:g.36679804_36679804dupG	ENSP00000265113:p.Gly311fs		Somatic				CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs	p.MG310fs	NM_004172.4	NP_004163.3	WXS	Illumina GAIIx	Phase_I	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1406_1407	+	all_lung(31;0.000245)		310					B2R5T3|Q4JCQ8	Frame_Shift_Ins	INS	ENST00000265113.4	37	c.930_931insG	CCDS3919.1																																																																																				0.520	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		11	918						11	918	---	---	---	---
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C	rs372345940		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggagcfs	p.S277fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.S277fs|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96	GRCh37	CD982526	C6	D		c.(826-831)gggctcfs		complement component 6																																				SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41181559_41181560insC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.829dupG	5.37:g.41181566_41181566dupC	ENSP00000263413:p.Ser277fs		Somatic				C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs|C6_ENST00000475349.1_5'UTR	p.L277fs	NM_001115131.1	NP_001108603.2	WXS	Illumina GAIIx	Phase_I	P13671	CO6_HUMAN			7	1092_1093	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	277			MACPF.			Frame_Shift_Ins	INS	ENST00000263413.3	37	c.828_829insG	CCDS3936.1																																																																																				0.376	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			7	169						7	169	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5898)agccccfs	p.SP1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(5893-5895)accfs		microtubule-associated protein 1B																																				SO:0001589	frameshift_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495076_71495077insC	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5901dupC	5.37:g.71495083_71495083dupC	ENSP00000296755:p.Ser1965fs		Somatic					p.T1965fs	NM_005909.3	NP_005900.2	WXS	Illumina GAIIx	Phase_I	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6192_6193	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1965					A2BDK5	Frame_Shift_Ins	INS	ENST00000296755.7	37	c.5894_5895insC	CCDS4012.1																																																																																				0.485	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		11	336						11	336	---	---	---	---
SEMA6A	57556	broad.mit.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G	rs569568718	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)cccaaafs	p.K880fs	SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.K357fs|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.K259fs|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.K897fs|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.K880fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.K307fs	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	880					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGGC	0.604																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2635-2640)ccaagtfs		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A																																				SO:0001589	frameshift_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115782764_115782765insG	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2638dupC	5.37:g.115782770_115782770dupG	ENSP00000345512:p.Lys880fs		Somatic				SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S897fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S259fs|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S357fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S307fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S880fs	p.S880fs	NM_020796.3	NP_065847.1	WXS	Illumina GAIIx	Phase_I	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	3424_3425	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	880					Q9P2H9	Frame_Shift_Ins	INS	ENST00000343348.6	37	c.2637_2638insC	CCDS47256.1																																																																																				0.604	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		13	491						13	491	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)gggtttfs	p.F2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.F2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(7657-7662)ggttacfs		fibrillin 2																																				SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127610310_127610311insC	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7660dupG	5.37:g.127610317_127610317dupC	ENSP00000424571:p.Phe2554fs		Somatic				FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs	p.Y2554fs			WXS	Illumina GAIIx	Phase_I	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	66	8633_8634	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2554			EGF-like 43; calcium-binding.		B4DU01|Q59ES6	Frame_Shift_Ins	INS	ENST00000508053.1	37	c.7659_7660insG	CCDS34222.1																																																																																				0.421	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		11	262						11	262	---	---	---	---
SLC22A5	6584	broad.mit.edu	37	5	131722730	131722731	+	Frame_Shift_Ins	INS	-	-	C	rs386134209|rs386134208		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:131722730_131722731insC	ENST00000245407.3	+	5	1059_1060	c.838_839insC	c.(838-840)tccfs	p.S280fs	SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.S304fs	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	280			S -> F (in CDSP; reduces carnitine transport). {ECO:0000269|PubMed:21922592}.		carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	CATCCCTGAGTCCCCCCGATGG	0.545											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8	GRCh37	CM045438	SLC22A5	M		c.(838-840)cccfs		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)																																			SO:0001589	frameshift_variant	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131722730_131722731insC	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.844dupC	5.37:g.131722736_131722736dupC	ENSP00000245407:p.Ser280fs		Somatic	OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1589	SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.P304fs	p.P280fs	NM_003060.3	NP_003051.1	WXS	Illumina GAIIx	Phase_I	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	1059_1060	+		all_cancers(142;0.0751)|Breast(839;0.198)	280					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Frame_Shift_Ins	INS	ENST00000245407.3	37	c.838_839insC	CCDS4154.1																																																																																				0.545	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		9	935						9	935	---	---	---	---
SLC25A48	153328	broad.mit.edu	37	5	135207263	135207264	+	Frame_Shift_Ins	INS	-	-	G	rs570026912|rs371126144		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:135207263_135207264insG	ENST00000420621.1	+	5	707_708	c.535_536insG	c.(535-537)cggfs	p.R179fs	SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000274513.5_Frame_Shift_Ins_p.R179fs|SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000433282.2_Frame_Shift_Ins_p.R125fs			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	179					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GGGGCTATACCGGGGGGCCAGT	0.604																																						ENST00000274513.5																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(535-537)gggfs		solute carrier family 25, member 48																																				SO:0001589	frameshift_variant	153328				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr5:135207263_135207264insG		CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"""Solute carriers"""	30451	protein-coding gene	gene with protein product	"""HCC-down-regulated mitochondrial carrier protein"""					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.541dupG	5.37:g.135207269_135207269dupG	ENSP00000407973:p.Arg179fs		Somatic				SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000433282.2_Frame_Shift_Ins_p.G125fs|SLC25A48_ENST00000420621.1_Frame_Shift_Ins_p.G179fs|SLC25A48_ENST00000425402.1_Intron	p.G179fs			WXS	Illumina GAIIx	Phase_I	Q6ZT89	S2548_HUMAN			5	707_708	+			179					Q8TAV9	Frame_Shift_Ins	INS	ENST00000420621.1	37	c.535_536insG																																																																																					0.604	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_145282		8	380						8	380	---	---	---	---
EIF4EBP3	8637	broad.mit.edu	37	5	139931628	139931629	+	IGR	INS	-	-	GTC	rs5871740|rs3085220|rs368142622|rs202193903	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:139931628_139931629insGTC	ENST00000310331.2	+	0	691				SRA1_ENST00000336283.6_In_Frame_Ins_p.110_110V>GL|SRA1_ENST00000520427.1_5'UTR	NM_003732.2	NP_003723.1	O60516	4EBP3_HUMAN	eukaryotic translation initiation factor 4E binding protein 3						negative regulation of translational initiation (GO:0045947)	eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	translation repressor activity (GO:0030371)			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCTCCATCACAGCCTCAGAC	0.589																																						ENST00000336283.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4						c.(328-330)gat>GACgat		steroid receptor RNA activator 1				1098,57,3109		127,26,818,0,31,1130						4.6	1.0		dbSNP_114	70	3373,320,4559		665,172,1871,4,140,1274	no	codingComplex	SRA1	NM_001035235.2		792,198,2689,4,171,2404	A1A1,A1A2,A1R,A2A2,A2R,RR		44.7528,27.0872,38.7344				4471,377,7668				SO:0001628	intergenic_variant	10011				apoptosis|cell differentiation|cell proliferation|transcription, DNA-dependent	cytoplasm|ribonucleoprotein complex	receptor activity	g.chr5:139931628_139931629insGTC	AF038869	CCDS4226.1	5q31.3	2007-07-18			ENSG00000243056	ENSG00000243056			3290	protein-coding gene	gene with protein product		603483				9593750	Standard	NM_003732		Approved	4E-BP3	uc003lfy.1	O60516	OTTHUMG00000129498		5.37:g.139931628_139931629insGTC			Somatic				SRA1_ENST00000520427.1_5'UTR	p.110_110D>DD	NM_001035235.3	NP_001030312.2	WXS	Illumina GAIIx	Phase_I	Q9HD15	SRA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	1149_1150	-			110	V -> RL (in Ref. 1; AAG02116 and 2; AAL55868).					In_Frame_Ins	INS	ENST00000310331.2	37	c.328_329insGAC	CCDS4226.1																																																																																				0.589	EIF4EBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251668.2	NM_003732		31	189						31	189	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)gggaggfs	p.R763fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.R425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.R665fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2284-2289)ggggatfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049341_141049342insC	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2287dupG	5.37:g.141049347_141049347dupC	ENSP00000239440:p.Arg763fs		Somatic				ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs	p.D763fs	NM_022481.5	NP_071926.4	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			16	2351_2352	-			763					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2286_2287insG	CCDS4266.1																																																																																				0.579	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		8	844						8	844	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049509	141049510	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:141049509_141049510insG	ENST00000239440.4	-	15	2293_2294	c.2228_2229insC	c.(2227-2229)ccafs	p.P743fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	743					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGTCAGTGGGTGGGGGGCTCAC	0.564																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2227-2229)cccfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049509_141049510insG	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2229dupC	5.37:g.141049515_141049515dupG	ENSP00000239440:p.Pro743fs		Somatic				ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs	p.P743fs	NM_022481.5	NP_071926.4	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			15	2293_2294	-			743					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2228_2229insC	CCDS4266.1																																																																																				0.564	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		8	856						8	856	---	---	---	---
STK10	6793	broad.mit.edu	37	5	171517344	171517345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:171517344_171517345insT	ENST00000176763.5	-	10	1919_1920	c.1576_1577insA	c.(1576-1578)accfs	p.T526fs	STK10_ENST00000517775.1_5'Flank	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	526					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGCTTGAGGGTTTTTTTGTAC	0.515																																						ENST00000176763.5																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(1576-1578)cctfs		serine/threonine kinase 10				2,4262		0,2,2130						4.6	1.0		dbSNP_131	210	0,8254		0,0,4127	no	frameshift	STK10	NM_005990.3		0,2,6257	A1A1,A1R,RR		0.0,0.0469,0.016				2,12516				SO:0001589	frameshift_variant	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171517344_171517345insT	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1577dupA	5.37:g.171517351_171517351dupT	ENSP00000176763:p.Thr526fs		Somatic					p.P526fs	NM_005990.3	NP_005981.3	WXS	Illumina GAIIx	Phase_I	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1919_1920	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	526					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Frame_Shift_Ins	INS	ENST00000176763.5	37	c.1576_1577insA	CCDS34290.1																																																																																				0.515	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		11	1167						11	1167	---	---	---	---
SYCP2L	221711	broad.mit.edu	37	6	10955449	10955449	+	Splice_Site	DEL	A	A	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:10955449delA	ENST00000283141.6	+	24	2351	c.2055delA	c.(2053-2055)cca>cc	p.P685fs		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	685						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GAGAGTTGCCAGGTAACATCA	0.433											OREG0017189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000283141.6																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.e24+1		synaptonemal complex protein 2-like							111.0	111.0	111.0					6																	10955449		1940	4138	6078	SO:0001630	splice_region_variant	221711					nucleus		g.chr6:10955449delA	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.2056+1A>-	6.37:g.10955449delA			Somatic	OREG0017189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	668		p.P685_splice	NM_001040274.2	NP_001035364.2	WXS	Illumina GAIIx	Phase_I	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		24	2351	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	685					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Splice_Site	DEL	ENST00000283141.6	37	c.2056_splice	CCDS43423.1																																																																																				0.433	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299	Frame_Shift_Del	54	198						54	198	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-756)gtggggfs	p.VG251fs	PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.VG106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.VG251fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(751-753)gggfs		phosphatase and actin regulator 1																																				SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206134_13206135insG	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.759dupG	6.37:g.13206141_13206141dupG	ENSP00000368655:p.Val251fs		Somatic				PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000379345.2_Intron	p.G251fs			WXS	Illumina GAIIx	Phase_I	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	881_882	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	251					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Ins	INS	ENST00000379350.1	37	c.752_753insG																																																																																					0.599	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		9	339						9	339	---	---	---	---
NRSN1	140767	broad.mit.edu	37	6	24145844	24145845	+	Frame_Shift_Ins	INS	-	-	C	rs577436927		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:24145844_24145845insC	ENST00000378491.4	+	4	559_560	c.258_259insC	c.(259-261)cccfs	p.P87fs		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GCTTTCTTGTGCCCCCCAAAAT	0.485																																						ENST00000378491.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						c.(256-261)gtccccfs		neurensin 1																																				SO:0001589	frameshift_variant	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24145844_24145845insC	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.264dupC	6.37:g.24145850_24145850dupC	ENSP00000367752:p.Pro87fs		Somatic					p.VP86fs	NM_080723.4	NP_542454.3	WXS	Illumina GAIIx	Phase_I	Q8IZ57	NRSN1_HUMAN			4	559_560	+			86						Frame_Shift_Ins	INS	ENST00000378491.4	37	c.258_259insC	CCDS4549.1																																																																																				0.485	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		7	370						7	370	---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-	rs368201041		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)ctgdel	p.L783del	GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.L783M(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GGAAGATTCCCAGCAGCAGCAGC	0.512																																						ENST00000377034.4																			1	Substitution - Missense(1)	p.L783M(1)	kidney(1)	endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2347-2349)del		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)																																			SO:0001651	inframe_deletion	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29573436_29573438delCAG	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2347_2349delCTG	6.37:g.29573445_29573447delCAG	ENSP00000366233:p.Leu783del		Somatic				GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR	p.L783del	NM_001470.2	NP_001461.1	WXS	Illumina GAIIx	Phase_I	Q9UBS5	GABR1_HUMAN			20	2682_2684	-			783					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	In_Frame_Del	DEL	ENST00000377034.4	37	c.2347_2349delCTG	CCDS4663.1																																																																																				0.512	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			7	507						7	507	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:29627216_29627217insC	ENST00000376917.3	+	2	438_439	c.209_210insC	c.(208-213)cgccccfs	p.RP70fs	MOG_ENST00000416766.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000533330.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376894.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000376902.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000376891.4_Frame_Shift_Ins_p.RP70fs	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569																																						ENST00000376894.4																			1	Deletion - Frameshift(1)	p.F73fs*29(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(208-210)cccfs		myelin oligodendrocyte glycoprotein																																				SO:0001589	frameshift_variant	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627216_29627217insC		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.216dupC	6.37:g.29627223_29627223dupC	ENSP00000366115:p.Arg70fs		Somatic				MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000490427.1_Intron|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron	p.P70fs			WXS	Illumina GAIIx	Phase_I	Q16653	MOG_HUMAN			2	327_328	+			70			Ig-like V-type.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Frame_Shift_Ins	INS	ENST00000376917.3	37	c.209_210insC	CCDS34370.1																																																																																				0.569	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		10	334						10	334	---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30569333	30569334	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:30569333_30569334insG	ENST00000376511.2	-	20	3367_3368	c.2815_2816insC	c.(2815-2817)ctgfs	p.L939fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	939					protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCCCTAGGGCAGGGGGGGCCCA	0.569																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(2815-2817)gccfs		protein phosphatase 1, regulatory subunit 10																																				SO:0001589	frameshift_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30569333_30569334insG	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2816dupC	6.37:g.30569340_30569340dupG	ENSP00000365694:p.Leu939fs		Somatic					p.A939fs	NM_002714.3	NP_002705.2	WXS	Illumina GAIIx	Phase_I	Q96QC0	PP1RA_HUMAN			20	3367_3368	-			939					O00405	Frame_Shift_Ins	INS	ENST00000376511.2	37	c.2815_2816insC	CCDS4681.1																																																																																				0.569	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		11	193						11	193	---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30571392	30571393	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:30571392_30571393insC	ENST00000376511.2	-	16	2175_2176	c.1623_1624insG	c.(1621-1626)gggtcafs	p.S542fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	542	Gly-rich.|Interaction with WDR82. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GAGCCACCTGACCCCCCAGGTT	0.53																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(1621-1626)ggcaggfs		protein phosphatase 1, regulatory subunit 10																																				SO:0001589	frameshift_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30571392_30571393insC	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.1624dupG	6.37:g.30571398_30571398dupC	ENSP00000365694:p.Ser542fs		Somatic					p.R542fs	NM_002714.3	NP_002705.2	WXS	Illumina GAIIx	Phase_I	Q96QC0	PP1RA_HUMAN			16	2175_2176	-			542			Gly-rich.|Interaction with WDR82 (By similarity).		O00405	Frame_Shift_Ins	INS	ENST00000376511.2	37	c.1623_1624insG	CCDS4681.1																																																																																				0.530	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		8	695						8	695	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31608920	31608921	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:31608920_31608921insC	ENST00000375964.6	-	19	2970_2971	c.2657_2658insG	c.(2656-2658)ggafs	p.G886fs	BAG6_ENST00000375976.4_Frame_Shift_Ins_p.G880fs|BAG6_ENST00000404765.2_Frame_Shift_Ins_p.G916fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.G880fs|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.G754fs|BAG6_ENST00000362049.6_Frame_Shift_Ins_p.G880fs	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	886					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCATCTGCTGTCCCCCCAAGCA	0.515																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(2746-2748)gcafs		BCL2-associated athanogene 6																																				SO:0001589	frameshift_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31608920_31608921insC	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2658dupG	6.37:g.31608926_31608926dupC	ENSP00000365131:p.Gly886fs		Somatic				BAG6_ENST00000439687.2_Frame_Shift_Ins_p.A754fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000362049.6_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000375964.6_Frame_Shift_Ins_p.A886fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.A880fs	p.A916fs			WXS	Illumina GAIIx	Phase_I	P46379	BAG6_HUMAN			20	3036_3037	-			886					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Frame_Shift_Ins	INS	ENST00000375964.6	37	c.2747_2748insG	CCDS47403.1																																																																																				0.515	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		9	690						9	690	---	---	---	---
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C	rs587778337		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)gccfs	p.A308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.54			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000229769.2			yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"""N, F, S"""	"""Fanconi anemia, complementation group E"""			L		"""AML, leukemia"""			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						c.(922-924)cccfs	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group E				16,4248		0,16,2116						-5.8	0.0		dbSNP_130	75	14,8240		0,14,4113	no	frameshift	FANCE	NM_021922.2		0,30,6229	A1A1,A1R,RR		0.1696,0.3752,0.2397				30,12488				SO:0001589	frameshift_variant	2178	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35425714_35425715insC	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.929dupC	6.37:g.35425721_35425721dupC	ENSP00000229769:p.Ala308fs		Somatic					p.P308fs	NM_021922.2	NP_068741.1	WXS	Illumina GAIIx	Phase_I	Q9HB96	FANCE_HUMAN			4	1107_1108	+			308			Interaction with FANCC.		A8K907|Q4ZGH2	Frame_Shift_Ins	INS	ENST00000229769.2	37	c.922_923insC	CCDS4805.1																																																																																				0.540	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			15	262						15	262	---	---	---	---
TRERF1	55809	broad.mit.edu	37	6	42231008	42231009	+	Intron	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:42231008_42231009insG	ENST00000372922.4	-	8	2447				TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000541110.1_Frame_Shift_Ins_p.R645fs|TRERF1_ENST00000372917.4_Intron	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1						cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGCAGGCGTGCGGGGGGCAGCC	0.644																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(1933-1935)cacfs		transcriptional regulating factor 1																																				SO:0001627	intron_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42231008_42231009insG	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1884+48->C	6.37:g.42231014_42231014dupG			Somatic				TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000372922.4_Intron|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000340840.2_Intron	p.H645fs			WXS	Illumina GAIIx	Phase_I	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		8	2501_2502	-	Colorectal(47;0.196)		628			Interacts with CREBBP.|Pro-rich.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Frame_Shift_Ins	INS	ENST00000372922.4	37	c.1933_1934insC	CCDS4867.1																																																																																				0.644	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		10	140						10	140	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43323600	43323601	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:43323600_43323601insC	ENST00000361428.2	-	4	1548_1549	c.1471_1472insG	c.(1471-1473)acafs	p.T491fs	ZNF318_ENST00000318149.3_Frame_Shift_Ins_p.T491fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	491					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CAGGAAGTCTGTGTGTCGCTCA	0.475																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(1471-1473)agafs		zinc finger protein 318																																				SO:0001589	frameshift_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323600_43323601insC	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1471_1472insG	6.37:g.43323600_43323601insC	ENSP00000354964:p.Thr491fs		Somatic				ZNF318_ENST00000318149.3_Frame_Shift_Ins_p.R491fs	p.R491fs	NM_014345.2	NP_055160.2	WXS	Illumina GAIIx	Phase_I	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	1548_1549	-			491					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Ins	INS	ENST00000361428.2	37	c.1471_1472insG	CCDS4895.2																																																																																				0.475	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		59	1259						59	1259	---	---	---	---
TNFRSF21	27242	broad.mit.edu	37	6	47253988	47253989	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:47253988_47253989insG	ENST00000296861.2	-	2	832_833	c.439_440insC	c.(439-441)catfs	p.H147fs		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	147					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ACACACCGTATGGGGGGCACAG	0.554																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(439-441)tacfs		tumor necrosis factor receptor superfamily, member 21																																				SO:0001589	frameshift_variant	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47253988_47253989insG	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.440dupC	6.37:g.47253994_47253994dupG	ENSP00000296861:p.His147fs		Somatic					p.Y147fs	NM_014452.3	NP_055267.1	WXS	Illumina GAIIx	Phase_I	O75509	TNR21_HUMAN	Lung(136;0.189)		2	832_833	-			147					B2RDI9|Q0D2P5|Q96D86	Frame_Shift_Ins	INS	ENST00000296861.2	37	c.439_440insC	CCDS4921.1																																																																																				0.554	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		9	893						9	893	---	---	---	---
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:87725846_87725847insC	ENST00000305344.5	+	2	1497_1498	c.794_795insC	c.(793-798)atccccfs	p.IP265fs		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TCCATCAGGATCCCCCCCTTCG	0.51																																						ENST00000305344.4																			1	Insertion - Frameshift(1)	p.F268fs*4(1)	large_intestine(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(793-795)accfs		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)																																			SO:0001589	frameshift_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725846_87725847insC		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.801dupC	6.37:g.87725853_87725853dupC	ENSP00000307766:p.Ile265fs		Somatic				HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	p.T265fs	NM_000865.2	NP_000856.1	WXS	Illumina GAIIx	Phase_I	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1497_1498	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	265					E1P503|Q9P1Y1	Frame_Shift_Ins	INS	ENST00000305344.5	37	c.794_795insC	CCDS5006.1																																																																																				0.510	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		16	926						16	926	---	---	---	---
CTGF	1490	broad.mit.edu	37	6	132270567	132270568	+	Frame_Shift_Ins	INS	-	-	G	rs15960		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:132270567_132270568insG	ENST00000367976.3	-	5	1086_1087	c.886_887insC	c.(886-888)cacfs	p.H296fs	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	296	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.|Heparin-binding.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GGTGGTTCTGTGGGGGGTGCAG	0.53																																					Esophageal Squamous(127;510 1660 12817 24400 38449)	ENST00000367976.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13						c.(886-888)cagfs		connective tissue growth factor																																				SO:0001589	frameshift_variant	1490				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding	g.chr6:132270567_132270568insG	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.887dupC	6.37:g.132270573_132270573dupG	ENSP00000356954:p.His296fs		Somatic					p.Q296fs	NM_001901.2	NP_001892.1	WXS	Illumina GAIIx	Phase_I	P29279	CTGF_HUMAN		GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)	5	1086_1087	-	Breast(56;0.0602)		296			CTCK.|Heparin-binding.		E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Frame_Shift_Ins	INS	ENST00000367976.3	37	c.886_887insC	CCDS5151.1																																																																																				0.530	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		10	613						10	613	---	---	---	---
TFB1M	51106	broad.mit.edu	37	6	155635515	155635515	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:155635515delG	ENST00000367166.4	-	1	103	c.48delC	c.(46-48)cccfs	p.P16fs	TFB1M_ENST00000480390.1_5'UTR	NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	16					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		CTCGAATCGTGGGCAACGGAG	0.547																																						ENST00000367166.4																			0				lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(46-48)ccfs		transcription factor B1, mitochondrial							118.0	102.0	108.0					6																	155635515		2203	4300	6503	SO:0001589	frameshift_variant	51106				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr6:155635515delG	AF151833	CCDS5248.1	6q25.1-q25.3	2011-01-28			ENSG00000029639	ENSG00000029639			17037	protein-coding gene	gene with protein product	"""dimethyladenosine transferase 1, mitochondrial"""	607033				10810093, 11809803	Standard	NM_016020		Approved	mtTFB, CGI-75	uc003qqj.4	Q8WVM0	OTTHUMG00000015881	ENST00000367166.4:c.48delC	6.37:g.155635515delG	ENSP00000356134:p.Pro16fs		Somatic				TFB1M_ENST00000480390.1_5'UTR	p.P16fs	NM_016020.3	NP_057104.2	WXS	Illumina GAIIx	Phase_I	Q8WVM0	TFB1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)	1	103	-		Ovarian(120;0.196)	16					Q05DR0|Q9Y384	Frame_Shift_Del	DEL	ENST00000367166.4	37	c.48delC	CCDS5248.1																																																																																				0.547	TFB1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042809.1			28	162						28	162	---	---	---	---
NUPL2	11097	broad.mit.edu	37	7	23224772	23224773	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:23224772_23224773insG	ENST00000258742.5	+	2	464_465	c.205_206insG	c.(205-207)tggfs	p.W69fs	NUPL2_ENST00000487595.1_3'UTR|AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.W69fs	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	69					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCACACCATGGGGGGGCAGC	0.406																																						ENST00000258742.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(205-207)gggfs		nucleoporin like 2				6,4258		0,6,2126						4.9	1.0			85	5,8249		0,5,4122	no	frameshift	NUPL2	NM_007342.2		0,11,6248	A1A1,A1R,RR		0.0606,0.1407,0.0879				11,12507				SO:0001589	frameshift_variant	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23224772_23224773insG	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.212dupG	7.37:g.23224779_23224779dupG	ENSP00000258742:p.Trp69fs		Somatic				NUPL2_ENST00000487595.1_3'UTR|NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.G69fs|AC005082.1_ENST00000366347.4_Intron	p.G69fs	NM_007342.2	NP_031368.1	WXS	Illumina GAIIx	Phase_I	O15504	NUPL2_HUMAN			2	464_465	+			69					A4D143|B4DP42|Q49AE7|Q9BS49	Frame_Shift_Ins	INS	ENST00000258742.5	37	c.205_206insG	CCDS5379.1																																																																																				0.406	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		7	159						7	159	---	---	---	---
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-381)atccccfs	p.IP126fs	FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.IP179fs|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(376-378)accfs		FK506 binding protein 9, 63 kDa																																				SO:0001589	frameshift_variant	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33014803_33014804insC	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.384dupC	7.37:g.33014810_33014810dupC	ENSP00000242209:p.Ile126fs		Somatic				AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs	p.T126fs	NM_007270.3	NP_009201.2	WXS	Illumina GAIIx	Phase_I	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		3	546_547	+			126			PPIase FKBP-type 1.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Frame_Shift_Ins	INS	ENST00000242209.4	37	c.377_378insC	CCDS5439.1																																																																																				0.446	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		8	316						8	316	---	---	---	---
NME8	51314	broad.mit.edu	37	7	37889877	37889878	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:37889877_37889878insA	ENST00000199447.4	+	3	381_382	c.9_10insA	c.(10-12)aaafs	p.K4fs	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Frame_Shift_Ins_p.K4fs	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	4	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										AAATGGCAAGCAAAAAACGAGA	0.317																																						ENST00000199447.4																			0											c.(7-12)agaaaafs		NME/NM23 family member 8																																				SO:0001589	frameshift_variant	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37889877_37889878insA	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.15dupA	7.37:g.37889883_37889883dupA	ENSP00000199447:p.Lys4fs		Somatic				EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Frame_Shift_Ins_p.RK3fs	p.RK3fs	NM_016616.4	NP_057700.3	WXS	Illumina GAIIx	Phase_I	Q8N427	TXND3_HUMAN			3	381_382	+			3			Thioredoxin.		Q9NZH1	Frame_Shift_Ins	INS	ENST00000199447.4	37	c.9_10insA	CCDS5452.1																																																																																				0.317	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		8	612						8	612	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86415681	86415682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:86415681_86415682insC	ENST00000361669.2	+	3	1672_1673	c.573_574insC	c.(574-576)cccfs	p.P192fs	AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Frame_Shift_Ins_p.P190fs|GRM3_ENST00000536043.1_Frame_Shift_Ins_p.P64fs|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.P192fs|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	192					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CCAGGACCGTGCCCCCCGACTT	0.564																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(571-576)gtccccfs		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)																																			SO:0001589	frameshift_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415681_86415682insC		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.579dupC	7.37:g.86415687_86415687dupC	ENSP00000355316:p.Pro192fs		Somatic				GRM3_ENST00000394720.2_Frame_Shift_Ins_p.VP189fs|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Frame_Shift_Ins_p.VP63fs|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.VP191fs|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron	p.VP191fs	NM_000840.2	NP_000831.2	WXS	Illumina GAIIx	Phase_I	Q14832	GRM3_HUMAN			3	1672_1673	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		191					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Frame_Shift_Ins	INS	ENST00000361669.2	37	c.573_574insC	CCDS5600.1																																																																																				0.564	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			8	276						8	276	---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3382-3384)cccfs	p.P1128fs	CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.P408fs|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.P489fs|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.P420fs|CCDC136_ENST00000471729.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1128						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTACCCCCAATCCCCCCATCTT	0.52																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(3379-3384)aaccccfs		coiled-coil domain containing 136																																				SO:0001589	frameshift_variant	64753					integral to membrane	protein binding	g.chr7:128457829_128457830insC		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.3387dupC	7.37:g.128457835_128457835dupC	ENSP00000297788:p.Pro1128fs		Somatic				CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs	p.NP1127fs	NM_022742.4	NP_073579.4	WXS	Illumina GAIIx	Phase_I	Q96JN2	CC136_HUMAN			17	3748_3749	+			1127					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Frame_Shift_Ins	INS	ENST00000297788.4	37	c.3381_3382insC	CCDS47704.1																																																																																				0.520	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		9	1850						9	1850	---	---	---	---
KDM7A	80853	broad.mit.edu	37	7	139820279	139820280	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:139820279_139820280insC	ENST00000397560.2	-	8	1198_1199	c.1101_1102insG	c.(1099-1104)gggaacfs	p.N368fs	JHDM1D_ENST00000006967.5_Frame_Shift_Ins_p.N368fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		368	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|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)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TGCAGGAAGTTCCCCCCAAAAG	0.356																																						ENST00000397560.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(1099-1104)ggacttfs																																						SO:0001589	frameshift_variant	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139820279_139820280insC																												ENST00000397560.2:c.1102dupG	7.37:g.139820285_139820285dupC	ENSP00000380692:p.Asn368fs		Somatic				JHDM1D_ENST00000006967.5_Frame_Shift_Ins_p.L368fs	p.L368fs	NM_030647.1	NP_085150.1	WXS	Illumina GAIIx	Phase_I	Q6ZMT4	KDM7_HUMAN			8	1198_1199	-	Melanoma(164;0.0142)		368			JmjC.		A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Frame_Shift_Ins	INS	ENST00000397560.2	37	c.1101_1102insG	CCDS43658.1																																																																																				0.356	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			7	227						7	227	---	---	---	---
ADCK2	90956	broad.mit.edu	37	7	140394593	140394594	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:140394593_140394594insC	ENST00000072869.4	+	8	2049_2050	c.1871_1872insC	c.(1870-1875)tgccccfs	p.CP624fs	NDUFB2_ENST00000247866.4_5'Flank|NDUFB2_ENST00000461457.1_5'Flank|NDUFB2_ENST00000460088.1_5'Flank|NDUFB2_ENST00000476470.1_5'Flank|NDUFB2_ENST00000472695.1_5'Flank|NDUFB2_ENST00000482954.1_Intron|NDUFB2_ENST00000204307.5_5'Flank|NDUFB2_ENST00000476279.1_5'Flank|NDUFB2_ENST00000471136.1_5'Flank|NDUFB2_ENST00000465506.1_5'Flank|NDUFB2-AS1_ENST00000465466.1_RNA|ADCK2_ENST00000476491.1_Intron	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	624						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GGCCCAGTGTGCCCCCCGTGAT	0.619																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(1870-1872)tccfs		aarF domain containing kinase 2																																				SO:0001589	frameshift_variant	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140394593_140394594insC	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1877dupC	7.37:g.140394599_140394599dupC	ENSP00000072869:p.Cys624fs		Somatic				NDUFB2_ENST00000482954.1_Intron|ADCK2_ENST00000476491.1_Intron	p.S624fs	NM_052853.3	NP_443085.2	WXS	Illumina GAIIx	Phase_I	Q7Z695	ADCK2_HUMAN			8	2049_2050	+	Melanoma(164;0.00956)		624					Q96CN6|Q9Y6T5	Frame_Shift_Ins	INS	ENST00000072869.4	37	c.1871_1872insC	CCDS5861.1																																																																																				0.619	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		9	235						9	235	---	---	---	---
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C	rs574092449|rs372744309	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160									T cell receptor beta variable 4-2																		TTTGTCCCTTTCCCCCCGCAGT	0.485																																						ENST00000390392.3																			0																																																			28616							g.chr7:142045511_142045512insC	U07975		7q34	2012-02-07			ENSG00000211745	ENSG00000211745		"""T cell receptors / TRB locus"""	12216	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV42, TCRBV4S2, TCRBV7S3A2T			OTTHUMG00000158525		7.37:g.142045517_142045517dupC			Somatic								WXS	Illumina GAIIx	Phase_I					0	160	+									RNA	INS	ENST00000390392.3	37																																																																																						0.485	TRBV4-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351231.1	NG_001333		8	488						8	488	---	---	---	---
AGAP3	116988	broad.mit.edu	37	7	150814456	150814457	+	Splice_Site	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:150814456_150814457insG	ENST00000463381.1	+	4	290		c.e4-1		AGAP3_ENST00000479901.1_Splice_Site|AGAP3_ENST00000335367.3_Splice_Site|AGAP3_ENST00000397238.2_Splice_Site|AGAP3_ENST00000476375.1_Splice_Site|AGAP3_ENST00000473312.1_Splice_Site	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3						cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCTCTGTCCTAGGGGGGCGGTT	0.579																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.e4-1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3																																				SO:0001630	splice_region_variant	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150814456_150814457insG	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.-206-1->G	7.37:g.150814462_150814462dupG			Somatic				AGAP3_ENST00000473312.1_Splice_Site|AGAP3_ENST00000335367.3_Splice_Site|AGAP3_ENST00000476375.1_Splice_Site|AGAP3_ENST00000463381.1_Splice_Site|AGAP3_ENST00000479901.1_Splice_Site		NM_031946.4	NP_114152.3	WXS	Illumina GAIIx	Phase_I	Q96P47	AGAP3_HUMAN			4	478	+								B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Splice_Site	INS	ENST00000463381.1	37																																																																																						0.579	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946	Intron	8	469						8	469	---	---	---	---
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:18413784_18413785insG	ENST00000327040.8	-	15	2964_2965	c.2862_2863insC	c.(2860-2865)cccgacfs	p.D955fs	PSD3_ENST00000286485.8_Frame_Shift_Ins_p.D421fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.D890fs|PSD3_ENST00000440756.2_Frame_Shift_Ins_p.D957fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.D284fs	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.48																																						ENST00000440756.2																			2	Substitution - Missense(2)	p.D421Y(1)|p.D957Y(1)	kidney(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2866-2871)ccacaafs		pleckstrin and Sec7 domain containing 3																																				SO:0001589	frameshift_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18413784_18413785insG	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2863dupC	8.37:g.18413790_18413790dupG	ENSP00000324127:p.Asp955fs		Somatic				PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs	p.Q957fs			WXS	Illumina GAIIx	Phase_I	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	15	2970_2971	-			956					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Frame_Shift_Ins	INS	ENST00000327040.8	37	c.2868_2869insC	CCDS43720.1																																																																																				0.480	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		7	774						7	774	---	---	---	---
DPYSL2	1808	broad.mit.edu	37	8	26513183	26513184	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:26513183_26513184insC	ENST00000311151.5	+	14	2092_2093	c.1680_1681insC	c.(1681-1683)cccfs	p.P561fs	DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.P525fs|DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.P525fs	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	561					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GTATCGTGGCGCCCCCCGGTGG	0.644											OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000311151.5																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20						c.(1678-1683)gcccccfs		dihydropyrimidinase-like 2																																				SO:0001589	frameshift_variant	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26513183_26513184insC	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.1686dupC	8.37:g.26513189_26513189dupC	ENSP00000309539:p.Pro561fs		Somatic	OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	787	DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.AP524fs|DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.AP524fs	p.AP560fs	NM_001386.5	NP_001377.1	WXS	Illumina GAIIx	Phase_I	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	14	2092_2093	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	560					A8K5H2|B4DR31|D3DSS7|O00424	Frame_Shift_Ins	INS	ENST00000311151.5	37	c.1680_1681insC	CCDS6051.1																																																																																				0.644	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		11	564						11	564	---	---	---	---
POMK	84197	broad.mit.edu	37	8	42958728	42958729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:42958728_42958729insC	ENST00000331373.5	+	4	292_293	c.37_38insC	c.(37-39)gccfs	p.A13fs		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	13					brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)										GAGAGGCCTCGCCCCCCGAGAG	0.54																																						ENST00000331373.5																			0											c.(37-39)cccfs						3,4261		0,3,2129						-9.6	0.0			82	3,8251		0,3,4124	no	frameshift	SGK196	NM_032237.3		0,6,6253	A1A1,A1R,RR		0.0363,0.0704,0.0479				6,12512				SO:0001589	frameshift_variant	84197					integral to membrane	ATP binding|protein kinase activity	g.chr8:42958728_42958729insC		CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.43dupC	8.37:g.42958734_42958734dupC	ENSP00000331258:p.Ala13fs		Somatic					p.P13fs	NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	WXS	Illumina GAIIx	Phase_I	Q9H5K3	SG196_HUMAN			4	292_293	+			13						Frame_Shift_Ins	INS	ENST00000331373.5	37	c.37_38insC	CCDS6141.1																																																																																				0.540	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377291.2	NM_032237		13	397						13	397	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)ccafs	p.P1552fs	ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4654-4656)cccfs		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)																																				SO:0001589	frameshift_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68128855_68128856insG	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4656dupC	8.37:g.68128862_68128862dupG	ENSP00000262215:p.Pro1552fs		Somatic				ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs	p.P1552fs	NM_006421.4	NP_006412.2	WXS	Illumina GAIIx	Phase_I	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		33	5044_5045	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1552					Q9NV46|Q9UFV2|Q9UNL0	Frame_Shift_Ins	INS	ENST00000262215.3	37	c.4655_4656insC	CCDS6199.1																																																																																				0.421	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		15	308						15	308	---	---	---	---
KLHL38	340359	broad.mit.edu	37	8	124664150	124664151	+	Frame_Shift_Ins	INS	-	-	C	rs201958346		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:124664150_124664151insC	ENST00000325995.7	-	1	1039_1040	c.1016_1017insG	c.(1015-1017)ggcfs	p.G339fs	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	339										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGACAGCCATGCCCCCCAGCAC	0.589																																						ENST00000325995.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(1015-1017)gatfs		kelch-like family member 38																																				SO:0001589	frameshift_variant	340359							g.chr8:124664150_124664151insC		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1017dupG	8.37:g.124664156_124664156dupC	ENSP00000321475:p.Gly339fs		Somatic				CTD-2552K11.2_ENST00000524355.1_RNA	p.D339fs	NM_001081675.2	NP_001075144.2	WXS	Illumina GAIIx	Phase_I	Q2WGJ6	KLH38_HUMAN			1	1039_1040	-			339					A0PK12	Frame_Shift_Ins	INS	ENST00000325995.7	37	c.1016_1017insG	CCDS43766.1																																																																																				0.589	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			8	553						8	553	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139151231	139151232	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:139151231_139151232insT	ENST00000395297.1	-	18	4068_4069	c.3898_3899insA	c.(3898-3900)acafs	p.T1300fs		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1300								p.T1300R(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCACTGACCTGTTTTTTGGCTT	0.446										HNSCC(54;0.14)																												ENST00000395297.1																			2	Substitution - Missense(2)	p.T1300R(2)	lung(2)	NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(3898-3900)aggfs		family with sequence similarity 135, member B																																				SO:0001589	frameshift_variant	51059							g.chr8:139151231_139151232insT	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3899dupA	8.37:g.139151237_139151237dupT	ENSP00000378710:p.Thr1300fs	HNSCC(54;0.14)	Somatic					p.R1300fs	NM_015912.3	NP_056996.2	WXS	Illumina GAIIx	Phase_I	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		18	4068_4069	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1300					B5MDB3|O95879|Q2WGJ7|Q3KP46	Frame_Shift_Ins	INS	ENST00000395297.1	37	c.3898_3899insA	CCDS6375.2																																																																																				0.446	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		7	332						7	332	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14823286	14823287	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:14823286_14823287insG	ENST00000380880.3	-	13	2991_2992	c.2208_2209insC	c.(2206-2211)cccatgfs	p.M737fs	FREM1_ENST00000380881.4_Frame_Shift_Ins_p.M738fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.M737fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	737					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGTCTTGCATGGGGGGCATGT	0.441																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2209-2214)cctgcafs		FRAS1 related extracellular matrix 1																																				SO:0001589	frameshift_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14823286_14823287insG	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2209dupC	9.37:g.14823292_14823292dupG	ENSP00000370262:p.Met737fs		Somatic				FREM1_ENST00000380880.3_Frame_Shift_Ins_p.A737fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.A737fs	p.A738fs			WXS	Illumina GAIIx	Phase_I	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	14	3026_3027	-			737					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Frame_Shift_Ins	INS	ENST00000380880.3	37	c.2211_2212insC	CCDS47952.1																																																																																				0.441	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		9	817						9	817	---	---	---	---
C9orf131	138724	broad.mit.edu	37	9	35045128	35045129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:35045128_35045129insC	ENST00000312292.5	+	2	2549_2550	c.2502_2503insC	c.(2503-2505)cccfs	p.P835fs	C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.P787fs|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.P762fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	835										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGCAGATTTATCCCCCCAATCC	0.54																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(2500-2505)taccccfs		chromosome 9 open reading frame 131																																				SO:0001589	frameshift_variant	138724							g.chr9:35045128_35045129insC	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2508dupC	9.37:g.35045134_35045134dupC	ENSP00000308279:p.Pro835fs		Somatic				C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.YP761fs|C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.YP786fs	p.YP834fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	WXS	Illumina GAIIx	Phase_I	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	2549_2550	+	all_epithelial(49;0.22)		834					A6NLE6|E9PB26|Q86XC6|Q9UF74	Frame_Shift_Ins	INS	ENST00000312292.5	37	c.2502_2503insC	CCDS6572.2																																																																																				0.540	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		9	2096						9	2096	---	---	---	---
TESK1	7016	broad.mit.edu	37	9	35608959	35608960	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:35608959_35608960insC	ENST00000336395.5	+	10	1351_1352	c.1101_1102insC	c.(1102-1104)cccfs	p.P368fs	MIR4667_ENST00000578933.1_RNA|TESK1_ENST00000498522.1_3'UTR|CD72_ENST00000490239.1_5'Flank	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	368					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACCAGAATCACCCCCCAACTG	0.609																																						ENST00000336395.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(1099-1104)tcccccfs		testis-specific kinase 1																																				SO:0001589	frameshift_variant	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35608959_35608960insC	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1107dupC	9.37:g.35608965_35608965dupC	ENSP00000338127:p.Pro368fs		Somatic				TESK1_ENST00000498522.1_3'UTR	p.SP367fs	NM_006285.2	NP_006276.2	WXS	Illumina GAIIx	Phase_I	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		10	1351_1352	+			367					Q8IXZ8	Frame_Shift_Ins	INS	ENST00000336395.5	37	c.1101_1102insC	CCDS6580.1																																																																																				0.609	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		8	261						8	261	---	---	---	---
CCIN	881	broad.mit.edu	37	9	36170618	36170619	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:36170618_36170619insG	ENST00000335119.2	+	1	1230_1231	c.1119_1120insG	c.(1120-1122)gggfs	p.G374fs		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	374					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TGGTGACCTGTGGGGGGACAGT	0.584																																						ENST00000335119.2																			0				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(1117-1122)tgggggfs		calicin																																				SO:0001589	frameshift_variant	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36170618_36170619insG	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1125dupG	9.37:g.36170624_36170624dupG	ENSP00000334996:p.Gly374fs		Somatic					p.WG373fs	NM_005893.2	NP_005884.2	WXS	Illumina GAIIx	Phase_I	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	1230_1231	+			373					Q9BXG7	Frame_Shift_Ins	INS	ENST00000335119.2	37	c.1119_1120insG	CCDS6599.1																																																																																				0.584	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		8	452						8	452	---	---	---	---
ZBTB5	9925	broad.mit.edu	37	9	37442161	37442162	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:37442161_37442162insG	ENST00000307750.4	-	2	575_576	c.387_388insC	c.(385-390)cccagtfs	p.S130fs		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	130					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		ACGCGCTCACTGGGGGGAGACA	0.525																																						ENST00000307750.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						c.(385-390)ccgtgafs		zinc finger and BTB domain containing 5																																				SO:0001589	frameshift_variant	9925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:37442161_37442162insG	AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.388dupC	9.37:g.37442167_37442167dupG	ENSP00000307604:p.Ser130fs		Somatic					p.*130fs	NM_014872.2	NP_055687.1	WXS	Illumina GAIIx	Phase_I	O15062	ZBTB5_HUMAN		GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)	2	575_576	-			130						Frame_Shift_Ins	INS	ENST00000307750.4	37	c.387_388insC	CCDS6610.1																																																																																				0.525	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		9	735						9	735	---	---	---	---
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)cccaatfs	p.N151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401																																						ENST00000374865.4																			1	Substitution - coding silent(1)	p.P150P(1)	prostate(1)	large_intestine(1)|lung(2)|prostate(2)	5						c.(448-453)ccatttfs		mitochondrial ribosomal protein L50																																				SO:0001589	frameshift_variant	54534					mitochondrion|ribosome		g.chr9:104152774_104152775insG	AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"""Mitochondrial ribosomal proteins / large subunits"""	16654	protein-coding gene	gene with protein product	"""mitochondrial 39S ribosomal protein L50"""	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.451dupC	9.37:g.104152780_104152780dupG	ENSP00000363999:p.Asn151fs		Somatic				MRPL50_ENST00000539624.1_Intron	p.F151fs	NM_019051.2	NP_061924.1	WXS	Illumina GAIIx	Phase_I	Q8N5N7	RM50_HUMAN			2	471_472	-		Acute lymphoblastic leukemia(62;0.0559)	151					B7Z358|Q5T7E0|Q9NX15	Frame_Shift_Ins	INS	ENST00000374865.4	37	c.450_451insC	CCDS6753.1																																																																																				0.401	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1	NM_019051		7	259						7	259	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)ggcfs	p.G592fs	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGTAGGCGAAGCCCCCCCAGAC	0.54																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(1774-1776)gttfs		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)																																			SO:0001589	frameshift_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107593322_107593323insC	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1776dupG	9.37:g.107593329_107593329dupC	ENSP00000363868:p.Gly592fs		Somatic					p.V592fs	NM_005502.3	NP_005493.2	WXS	Illumina GAIIx	Phase_I	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	14	2169_2170	-			592					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Frame_Shift_Ins	INS	ENST00000374736.3	37	c.1775_1776insG	CCDS6762.1																																																																																				0.540	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		25	318						25	318	---	---	---	---
C9orf152	401546	broad.mit.edu	37	9	112963553	112963554	+	Frame_Shift_Ins	INS	-	-	G	rs554733063		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:112963553_112963554insG	ENST00000400613.4	-	2	1003_1004	c.394_395insC	c.(394-396)cagfs	p.Q132fs	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	132										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACTGGTGTCCTGGGGGGAGGTT	0.564																																						ENST00000400613.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(394-396)ggafs		chromosome 9 open reading frame 152																																				SO:0001589	frameshift_variant	401546							g.chr9:112963553_112963554insG	BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.395dupC	9.37:g.112963559_112963559dupG	ENSP00000383456:p.Gln132fs		Somatic				C9orf152_ENST00000473442.1_Intron	p.G132fs	NM_001012993.2	NP_001013011.2	WXS	Illumina GAIIx	Phase_I	Q5JTZ5	CI152_HUMAN			2	1003_1004	-			132					A8MWT6	Frame_Shift_Ins	INS	ENST00000400613.4	37	c.394_395insC	CCDS35102.2																																																																																				0.564	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2	NM_001012993		8	1051						8	1051	---	---	---	---
AKNA	80709	broad.mit.edu	37	9	117103910	117103911	+	Frame_Shift_Ins	INS	-	-	G	rs564678358|rs150618733		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:117103910_117103911insG	ENST00000307564.4	-	21	4130_4131	c.3969_3970insC	c.(3967-3972)cccggafs	p.G1324fs	AKNA_ENST00000374088.3_Frame_Shift_Ins_p.G1324fs|AKNA_ENST00000223791.3_Frame_Shift_Ins_p.G784fs|AKNA_ENST00000374075.5_Frame_Shift_Ins_p.G1243fs|AKNA_ENST00000374079.4_Frame_Shift_Ins_p.G269fs|AKNA_ENST00000492875.1_5'UTR	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1324					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TACCACAGTCCGGGGGGTGGGC	0.624																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(3967-3972)ccgactfs		AT-hook transcription factor																																				SO:0001589	frameshift_variant	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117103910_117103911insG	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3970dupC	9.37:g.117103916_117103916dupG	ENSP00000303769:p.Gly1324fs		Somatic				AKNA_ENST00000374079.4_Frame_Shift_Ins_p.T269fs|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000223791.3_Frame_Shift_Ins_p.T784fs|AKNA_ENST00000374075.5_Frame_Shift_Ins_p.T1243fs|AKNA_ENST00000374088.3_Frame_Shift_Ins_p.T1324fs	p.T1324fs	NM_030767.4	NP_110394.3	WXS	Illumina GAIIx	Phase_I	Q7Z591	AKNA_HUMAN			21	4130_4131	-			1324					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Frame_Shift_Ins	INS	ENST00000307564.4	37	c.3969_3970insC	CCDS6805.1																																																																																				0.624	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		8	190						8	190	---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137717708	137717709	+	Frame_Shift_Ins	INS	-	-	G	rs560774273|rs368448060		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:137717708_137717709insG	ENST00000371817.3	+	63	5439_5440	c.5025_5026insG	c.(5026-5028)gggfs	p.G1676fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1676	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.G1676W(1)|p.A1675A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACTTCACAGCCGGGGGGTCGAC	0.594																																						ENST00000371817.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.G1676W(1)|p.A1675A(1)	lung(2)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(5023-5028)gcggggfs		collagen, type V, alpha 1																																				SO:0001589	frameshift_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137717708_137717709insG	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5031dupG	9.37:g.137717714_137717714dupG	ENSP00000360882:p.Gly1676fs		Somatic					p.AG1675fs	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	WXS	Illumina GAIIx	Phase_I	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	63	5439_5440	+		Myeloproliferative disorder(178;0.0341)	1675			Fibrillar collagen NC1.		Q15094|Q5SUX4	Frame_Shift_Ins	INS	ENST00000371817.3	37	c.5025_5026insG	CCDS6982.1																																																																																				0.594	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		7	371						7	371	---	---	---	---
PHYH	5264	broad.mit.edu	37	10	13325834	13325835	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:13325834_13325835insC	ENST00000263038.4	-	7	741_742	c.683_684insG	c.(682-684)ggafs	p.G228fs	PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs|PHYH_ENST00000396920.3_Frame_Shift_Ins_p.G211fs	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	228					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTTTGTTAACTCCCCCCTAGAA	0.465																																						ENST00000396920.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25	GRCh37	CI040643	PHYH	I		c.(631-633)ggtfs		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13325834_13325835insC		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.684dupG	10.37:g.13325840_13325840dupC	ENSP00000263038:p.Gly228fs		Somatic				PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs|PHYH_ENST00000263038.4_Frame_Shift_Ins_p.G228fs	p.G211fs			WXS	Illumina GAIIx	Phase_I	O14832	PAHX_HUMAN			7	1036_1037	-		Ovarian(717;0.0448)	228					A8MTS8|B1ALH5	Frame_Shift_Ins	INS	ENST00000263038.4	37	c.632_633insG	CCDS7097.1																																																																																				0.465	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			12	755						12	755	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24832466	24832467	+	Frame_Shift_Ins	INS	-	-	C	rs61734877		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:24832466_24832467insC	ENST00000376454.3	+	19	4297_4298	c.4267_4268insC	c.(4267-4269)accfs	p.T1423fs	KIAA1217_ENST00000376451.2_Frame_Shift_Ins_p.T1106fs|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000458595.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1423					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAAAGAGATGACCCCCCGACAA	0.495																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(3316-3318)cccfs		KIAA1217																																				SO:0001589	frameshift_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24832466_24832467insC	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.4273dupC	10.37:g.24832472_24832472dupC	ENSP00000365637:p.Thr1423fs		Somatic				KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376454.3_Frame_Shift_Ins_p.P1423fs|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376452.3_Intron	p.P1106fs			WXS	Illumina GAIIx	Phase_I	Q5T5P2	SKT_HUMAN			14	3576_3577	+			1423					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Frame_Shift_Ins	INS	ENST00000376454.3	37	c.3316_3317insC	CCDS31165.1																																																																																				0.495	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		10	320						10	320	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:31809832_31809833insG	ENST00000320985.10	+	7	1679_1680	c.1569_1570insG	c.(1570-1572)gggfs	p.G524fs	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.G504fs|ZEB1_ENST00000446923.2_Frame_Shift_Ins_p.G508fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.G525fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.G457fs			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	524					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77	GRCh37	CD075582	ZEB1	D	rs35708848	c.(1519-1524)gaggggfs		zinc finger E-box binding homeobox 1																																				SO:0001589	frameshift_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809832_31809833insG	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1576dupG	10.37:g.31809839_31809839dupG	ENSP00000319248:p.Gly524fs		Somatic				ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs	p.EG507fs	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	WXS	Illumina GAIIx	Phase_I	P37275	ZEB1_HUMAN			7	1912_1913	+		Prostate(175;0.0156)	523					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Frame_Shift_Ins	INS	ENST00000320985.10	37	c.1521_1522insG	CCDS7169.1																																																																																				0.371	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		8	203						8	203	---	---	---	---
PARD3	56288	broad.mit.edu	37	10	34666941	34666942	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:34666941_34666942insC	ENST00000374789.3	-	10	1817_1818	c.1492_1493insG	c.(1492-1494)gcgfs	p.A498fs	PARD3_ENST00000340077.5_Frame_Shift_Ins_p.A498fs|PARD3_ENST00000544292.1_Frame_Shift_Ins_p.A228fs|PARD3_ENST00000374794.3_Frame_Shift_Ins_p.A454fs|PARD3_ENST00000374788.3_Frame_Shift_Ins_p.A498fs|PARD3_ENST00000545693.1_Frame_Shift_Ins_p.A498fs|PARD3_ENST00000346874.4_Frame_Shift_Ins_p.A498fs|PARD3_ENST00000545260.1_Frame_Shift_Ins_p.A454fs|PARD3_ENST00000350537.4_Frame_Shift_Ins_p.A498fs|PARD3_ENST00000374776.1_Frame_Shift_Ins_p.A498fs|PARD3_ENST00000374773.1_Frame_Shift_Ins_p.A498fs|PARD3_ENST00000374790.3_Frame_Shift_Ins_p.A454fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	498	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTGAATGGCCGCCCCCCGGGGG	0.48																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(1492-1494)ggcfs		par-3 family cell polarity regulator																																				SO:0001589	frameshift_variant	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34666941_34666942insC	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1493dupG	10.37:g.34666947_34666947dupC	ENSP00000363921:p.Ala498fs		Somatic				PARD3_ENST00000545693.1_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000374790.3_Frame_Shift_Ins_p.G454fs|PARD3_ENST00000374794.3_Frame_Shift_Ins_p.G454fs|PARD3_ENST00000340077.5_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000544292.1_Frame_Shift_Ins_p.G228fs|PARD3_ENST00000374776.1_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000374788.3_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000346874.4_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000350537.4_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000545260.1_Frame_Shift_Ins_p.G454fs|PARD3_ENST00000374773.1_Frame_Shift_Ins_p.G498fs	p.G498fs	NM_019619.3	NP_062565.2	WXS	Illumina GAIIx	Phase_I	Q8TEW0	PARD3_HUMAN			10	1817_1818	-		Breast(68;0.0707)	498			PDZ 2.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Frame_Shift_Ins	INS	ENST00000374789.3	37	c.1492_1493insG	CCDS7178.1																																																																																				0.480	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		9	219						9	219	---	---	---	---
ZNF248	57209	broad.mit.edu	37	10	38121236	38121237	+	Frame_Shift_Ins	INS	-	-	C	rs34731183		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:38121236_38121237insC	ENST00000395867.3	-	6	1596_1597	c.1046_1047insG	c.(1045-1047)ggafs	p.G349fs	AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000357328.4_Frame_Shift_Ins_p.G349fs|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CATAAGACTTTCCCCCCATGTG	0.401																																						ENST00000395867.3																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(1045-1047)gaafs		zinc finger protein 248																																				SO:0001589	frameshift_variant	57209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38121236_38121237insC	AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.1047dupG	10.37:g.38121242_38121242dupC	ENSP00000379208:p.Gly349fs		Somatic				ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Frame_Shift_Ins_p.E349fs|ZNF248_ENST00000494133.1_Intron	p.E349fs	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	WXS	Illumina GAIIx	Phase_I	Q8NDW4	ZN248_HUMAN			6	1596_1597	-			349					Q8NDV8|Q9UMP3	Frame_Shift_Ins	INS	ENST00000395867.3	37	c.1046_1047insG	CCDS7194.1																																																																																				0.401	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045		8	499						8	499	---	---	---	---
PALD1	27143	broad.mit.edu	37	10	72292440	72292441	+	Frame_Shift_Ins	INS	-	-	G	rs145337663	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:72292440_72292441insG	ENST00000263563.6	+	6	965_966	c.697_698insG	c.(697-699)tggfs	p.W233fs		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	233						cytosol (GO:0005829)											CGAGGACCTGTGGGGGGAGCCC	0.604																																						ENST00000263563.6																			0											c.(697-699)gggfs		phosphatase domain containing, paladin 1																																				SO:0001589	frameshift_variant	27143							g.chr10:72292440_72292441insG	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.703dupG	10.37:g.72292446_72292446dupG	ENSP00000263563:p.Trp233fs		Somatic					p.G233fs	NM_014431.2	NP_055246.2	WXS	Illumina GAIIx	Phase_I					6	965_966	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Frame_Shift_Ins	INS	ENST00000263563.6	37	c.697_698insG	CCDS31215.1																																																																																				0.604	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		9	992						9	992	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89692949	89692949	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:89692949delT	ENST00000371953.3	+	5	1790	c.433delT	c.(433-435)tttfs	p.F145fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	145	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.F145I(1)|p.A121_F145del(1)|p.F145_L146del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCGGGGCAAATTTTTAAAGGC	0.388		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		53	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Deletion - In frame(2)|Substitution - Missense(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.F145I(1)|p.A121_F145del(1)|p.F145_L146del(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|endometrium(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(433-435)ttfs		phosphatase and tensin homolog							79.0	79.0	79.0					10																	89692949		2203	4300	6503	SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692949delT	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.433delT	10.37:g.89692949delT	ENSP00000361021:p.Phe145fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic					p.F145fs	NM_000314.4	NP_000305.3	WXS	Illumina GAIIx	Phase_I	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1790	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	145			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.433delT	CCDS31238.1																																																																																				0.388	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		55	191						55	191	---	---	---	---
ZFYVE27	118813	broad.mit.edu	37	10	99510176	99510177	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:99510176_99510177insG	ENST00000393677.4	+	7	957_958	c.753_754insG	c.(754-756)gggfs	p.G252fs	ZFYVE27_ENST00000357540.4_Frame_Shift_Ins_p.G166fs|ZFYVE27_ENST00000359980.3_Frame_Shift_Ins_p.G252fs|ZFYVE27_ENST00000337540.7_Frame_Shift_Ins_p.G220fs|ZFYVE27_ENST00000370613.3_Frame_Shift_Ins_p.G134fs|ZFYVE27_ENST00000356257.4_Frame_Shift_Ins_p.G252fs|ZFYVE27_ENST00000370610.3_Frame_Shift_Ins_p.G154fs|ZFYVE27_ENST00000453958.2_Frame_Shift_Ins_p.G252fs	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	252					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CACCAGATGTTGGGGGGAAGGA	0.599																																						ENST00000393677.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(751-756)gtggggfs		zinc finger, FYVE domain containing 27																																				SO:0001589	frameshift_variant	118813				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding	g.chr10:99510176_99510177insG	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.759dupG	10.37:g.99510182_99510182dupG	ENSP00000377282:p.Gly252fs		Somatic				ZFYVE27_ENST00000359980.3_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000356257.4_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000370610.3_Frame_Shift_Ins_p.VG153fs|ZFYVE27_ENST00000357540.4_Frame_Shift_Ins_p.VG165fs|ZFYVE27_ENST00000453958.2_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000370613.3_Frame_Shift_Ins_p.VG133fs|ZFYVE27_ENST00000337540.7_Frame_Shift_Ins_p.VG219fs	p.VG251fs	NM_144588.6	NP_653189.3	WXS	Illumina GAIIx	Phase_I	Q5T4F4	ZFY27_HUMAN		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)	7	957_958	+		Colorectal(252;0.0846)	251					B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Frame_Shift_Ins	INS	ENST00000393677.4	37	c.753_754insG	CCDS31263.1																																																																																				0.599	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		10	469						10	469	---	---	---	---
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)cccgaafs	p.E317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.47																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(946-951)ccaagafs		carboxypeptidase N, polypeptide 1																																				SO:0001589	frameshift_variant	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101816832_101816833insG	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.949dupC	10.37:g.101816838_101816838dupG	ENSP00000359446:p.Glu317fs		Somatic					p.R317fs	NM_001308.2	NP_001299.1	WXS	Illumina GAIIx	Phase_I	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	6	1199_1200	-		Colorectal(252;0.234)	317			Catalytic.		B1AP59	Frame_Shift_Ins	INS	ENST00000370418.3	37	c.948_949insC	CCDS7486.1																																																																																				0.470	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		13	1027						13	1027	---	---	---	---
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1774-1776)cccfs	p.P592fs	BTRC_ENST00000493877.1_3'UTR|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.P556fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.P551fs	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	592			P -> H (in dbSNP:rs2270439).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(1771-1776)gaccccfs		beta-transducin repeat containing E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103310572_103310573insC	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1780dupC	10.37:g.103310579_103310579dupC	ENSP00000359206:p.Pro592fs		Somatic				BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000493877.1_3'UTR|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs	p.DP591fs	NM_033637.3	NP_378663.1	WXS	Illumina GAIIx	Phase_I	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	14	1891_1892	+		Colorectal(252;0.234)	591					B5MD49|Q5W141|Q5W142|Q9Y213	Frame_Shift_Ins	INS	ENST00000370187.3	37	c.1773_1774insC	CCDS7512.1																																																																																				0.431	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		10	359						10	359	---	---	---	---
USMG5	84833	broad.mit.edu	37	10	105151997	105151997	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:105151997delT	ENST00000369825.1	-	4	613	c.131delA	c.(130-132)tatfs	p.Y44fs	USMG5_ENST00000337003.4_Frame_Shift_Del_p.Y44fs|MIR1307_ENST00000408840.1_RNA|USMG5_ENST00000369811.1_Frame_Shift_Del_p.Y44fs|USMG5_ENST00000369815.1_Frame_Shift_Del_p.Y44fs|USMG5_ENST00000309579.3_Frame_Shift_Del_p.Y44fs			Q96IX5	USMG5_HUMAN	up-regulated during skeletal muscle growth 5 homolog (mouse)	44						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)				breast(1)	1		Colorectal(252;0.142)		Epithelial(162;3.94e-09)|all cancers(201;2.76e-08)|BRCA - Breast invasive adenocarcinoma(275;0.197)		TAACTTGAAATATAAGACAAT	0.308																																						ENST00000369825.1																			0				breast(1)	1						c.(130-132)ttfs		up-regulated during skeletal muscle growth 5 homolog (mouse)							111.0	107.0	108.0					10																	105151997		2203	4299	6502	SO:0001589	frameshift_variant	84833					integral to membrane		g.chr10:105151997delT	BC007087	CCDS7548.1	10q24.33	2011-04-13	2008-06-05		ENSG00000173915	ENSG00000173915			30889	protein-coding gene	gene with protein product		615204	"""upregulated during skeletal muscle growth 5"", ""upregulated during skeletal muscle growth 5 homolog (mouse)"""			12477932	Standard	NM_032747		Approved	MGC14697, bA792D24.4, DAPIT	uc001kwx.2	Q96IX5	OTTHUMG00000018984	ENST00000369825.1:c.131delA	10.37:g.105151997delT	ENSP00000358840:p.Tyr44fs		Somatic				USMG5_ENST00000309579.3_Frame_Shift_Del_p.Y44fs|USMG5_ENST00000369815.1_Frame_Shift_Del_p.Y44fs|USMG5_ENST00000369811.1_Frame_Shift_Del_p.Y44fs|USMG5_ENST00000337003.4_Frame_Shift_Del_p.Y44fs	p.Y44fs			WXS	Illumina GAIIx	Phase_I	Q96IX5	USMG5_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.76e-08)|BRCA - Breast invasive adenocarcinoma(275;0.197)	4	613	-		Colorectal(252;0.142)	44					B2R4N2|D3DR92	Frame_Shift_Del	DEL	ENST00000369825.1	37	c.131delA	CCDS7548.1																																																																																				0.308	USMG5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050142.1	NM_032747		23	71						23	71	---	---	---	---
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)tccfs	p.S147fs	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.51																																						ENST00000345043.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(439-441)cccfs		olfactory receptor, family 52, subfamily B, member 6																																				SO:0001589	frameshift_variant	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602545_5602546insC	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.445dupC	11.37:g.5602551_5602551dupC	ENSP00000341581:p.Ser147fs		Somatic				AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	p.P147fs	NM_001005162.2	NP_001005162.2	WXS	Illumina GAIIx	Phase_I	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	439_440	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	147					Q6IFI7	Frame_Shift_Ins	INS	ENST00000345043.2	37	c.439_440insC	CCDS41611.1																																																																																				0.510	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		14	1131						14	1131	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6655045	6655046	+	Frame_Shift_Ins	INS	-	-	G	rs528648883	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:6655045_6655046insG	ENST00000299441.3	-	4	2603_2604	c.2192_2193insC	c.(2191-2193)ccafs	p.P731fs	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	731	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTAAAAAGTGGGGGGCTGTT	0.604																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(2191-2193)cctfs		dachsous cadherin-related 1																																				SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6655045_6655046insG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2193dupC	11.37:g.6655051_6655051dupG	ENSP00000299441:p.Pro731fs		Somatic				RP11-732A19.6_ENST00000526633.1_RNA	p.P731fs	NM_003737.2	NP_003728.1	WXS	Illumina GAIIx	Phase_I	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	2603_2604	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	731			Cadherin 7.		O15098	Frame_Shift_Ins	INS	ENST00000299441.3	37	c.2192_2193insC	CCDS7771.1																																																																																				0.604	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		9	571						9	571	---	---	---	---
EIF4G2	1982	broad.mit.edu	37	11	10820934	10820935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:10820934_10820935insG	ENST00000526148.1	-	20	2871_2872	c.2361_2362insC	c.(2359-2364)cccagcfs	p.S788fs	EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.S750fs|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.S788fs|EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.S788fs|RP11-685M7.5_ENST00000532365.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.S788R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTTTCATCGCTGGGGGGGTTTA	0.406																																						ENST00000526148.1																			1	Substitution - Missense(1)	p.S788R(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(2359-2364)ccgcgafs		eukaryotic translation initiation factor 4 gamma, 2																																				SO:0001589	frameshift_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10820934_10820935insG	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2362dupC	11.37:g.10820941_10820941dupG	ENSP00000433664:p.Ser788fs		Somatic				EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.R788fs|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.R788fs|EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.R750fs	p.R788fs	NM_001172705.1	NP_001166176.1	WXS	Illumina GAIIx	Phase_I	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	20	2871_2872	-			788			W2.			Frame_Shift_Ins	INS	ENST00000526148.1	37	c.2361_2362insC	CCDS31428.1																																																																																				0.406	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		7	137						7	137	---	---	---	---
E2F8	79733	broad.mit.edu	37	11	19247356	19247357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:19247356_19247357insC	ENST00000527884.1	-	11	2180_2181	c.1948_1949insG	c.(1948-1950)gcafs	p.A650fs	E2F8_ENST00000529188.1_5'UTR|RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Frame_Shift_Ins_p.A650fs	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	650					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AATGGACTCTGCCCCCAGGGAT	0.45																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1948-1950)agafs		E2F transcription factor 8																																				SO:0001589	frameshift_variant	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19247356_19247357insC		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1949dupG	11.37:g.19247361_19247361dupC	ENSP00000434199:p.Ala650fs		Somatic				E2F8_ENST00000529188.1_5'UTR|E2F8_ENST00000250024.4_Frame_Shift_Ins_p.R650fs|RP11-428C19.4_ENST00000527978.1_RNA	p.R650fs	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	WXS	Illumina GAIIx	Phase_I	A0AVK6	E2F8_HUMAN			11	2180_2181	-			650					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Frame_Shift_Ins	INS	ENST00000527884.1	37	c.1948_1949insG	CCDS7849.1																																																																																				0.450	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		7	1011						7	1011	---	---	---	---
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C	rs564123868		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)gaafs	p.E202fs	APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.E219fs	NM_015957.2	NP_057041.2			APAF1 interacting protein											kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.45																																						ENST00000395787.3																			0				kidney(2)|lung(1)|skin(1)	4						c.(604-606)aacfs		APAF1 interacting protein																																				SO:0001589	frameshift_variant	51074				apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity	g.chr11:34904908_34904909insC	AF132963	CCDS7895.1	11p13	2014-05-12				ENSG00000149089	4.2.1.109		17581	protein-coding gene	gene with protein product	"""methylthioribulose-1-phosphate dehydratase"""	612491				10810093, 15262985, 24367089	Standard	NM_015957		Approved	CGI-29, Mmrp19, APIP2	uc001mvs.2	Q96GX9		ENST00000395787.3:c.605dupG	11.37:g.34904914_34904914dupC	ENSP00000379133:p.Glu202fs		Somatic				APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs|APIP_ENST00000527830.1_5'UTR	p.N202fs	NM_015957.2	NP_057041.2	WXS	Illumina GAIIx	Phase_I	Q96GX9	MTNB_HUMAN	STAD - Stomach adenocarcinoma(6;0.000425)		6	818_819	-	all_epithelial(35;0.161)	all_hematologic(20;0.107)	202						Frame_Shift_Ins	INS	ENST00000395787.3	37	c.604_605insG	CCDS7895.1																																																																																				0.450	APIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389864.1	NM_015957		13	697						13	697	---	---	---	---
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(751-753)cccfs	p.P251fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.48																																						ENST00000319988.1																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						c.(748-753)atccccfs		olfactory receptor, family 4, subfamily S, member 1																																				SO:0001589	frameshift_variant	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328524_48328525insC	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.756dupC	11.37:g.48328530_48328530dupC	ENSP00000321447:p.Pro251fs		Somatic					p.IP250fs	NM_001004725.1	NP_001004725.1	WXS	Illumina GAIIx	Phase_I	Q8NGB4	OR4S1_HUMAN			1	750_751	+			250					Q6IFB4	Frame_Shift_Ins	INS	ENST00000319988.1	37	c.750_751insC	CCDS31488.1																																																																																				0.480	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		9	804						9	804	---	---	---	---
OR4D11	219986	broad.mit.edu	37	11	59271497	59271498	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:59271497_59271498insG	ENST00000313253.1	+	1	449_450	c.449_450insG	c.(448-453)atggggfs	p.MG150fs		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GCCTCTTGGATGGGGGGCTTTG	0.55																																						ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(448-450)aggfs		olfactory receptor, family 4, subfamily D, member 11																																				SO:0001589	frameshift_variant	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271497_59271498insG	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.455dupG	11.37:g.59271503_59271503dupG	ENSP00000320077:p.Met150fs		Somatic					p.R150fs	NM_001004706.1	NP_001004706.1	WXS	Illumina GAIIx	Phase_I	Q8NGI4	OR4DB_HUMAN			1	449_450	+			150						Frame_Shift_Ins	INS	ENST00000313253.1	37	c.449_450insG	CCDS31563.1																																																																																				0.550	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		7	459						7	459	---	---	---	---
TMEM132A	54972	broad.mit.edu	37	11	60699533	60699534	+	Frame_Shift_Ins	INS	-	-	G	rs61745629|rs183954132	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:60699533_60699534insG	ENST00000453848.2	+	7	1448_1449	c.1290_1291insG	c.(1291-1293)gggfs	p.G431fs	TMEM132A_ENST00000005286.4_Frame_Shift_Ins_p.G432fs			Q24JP5	T132A_HUMAN	transmembrane protein 132A	431						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTGTGGACGGCGGGGGGGCCTT	0.644																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(1291-1296)ggggggfs		transmembrane protein 132A			,	6,4258		0,6,2126					,	-7.6	0.0			59	6,8248		0,6,4121	no	frameshift,frameshift	TMEM132A	NM_178031.2,NM_017870.3	,	0,12,6247	A1A1,A1R,RR		0.0727,0.1407,0.0959	,	,		12,12506				SO:0001589	frameshift_variant	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60699533_60699534insG	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1297dupG	11.37:g.60699540_60699540dupG	ENSP00000405823:p.Gly431fs		Somatic				TMEM132A_ENST00000453848.2_Frame_Shift_Ins_p.GG430fs	p.GG431fs	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	WXS	Illumina GAIIx	Phase_I	Q24JP5	T132A_HUMAN			7	1446_1447	+			430					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Frame_Shift_Ins	INS	ENST00000453848.2	37	c.1293_1294insG	CCDS44618.1																																																																																				0.644	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		7	194						7	194	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G	rs555561982	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:61094367_61094368insG	ENST00000301764.7	-	5	947		c.e5-2		DDB1_ENST00000545930.1_Splice_Site|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa						DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGAGGGTCCTGGGGGGGAAAG	0.515								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.e5-2	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa				2,4260		0,2,2129						4.8	1.0			84	5,8245		0,5,4120	no	splice-3	DDB1	NM_001923.3		0,7,6249	A1A1,A1R,RR		0.0606,0.0469,0.0559				7,12505				SO:0001630	splice_region_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61094367_61094368insG	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.550-2->C	11.37:g.61094374_61094374dupG			Somatic				DDB1_ENST00000545930.1_Splice_Site|DDB1_ENST00000450997.2_Intron		NM_001923.4	NP_001914.3	WXS	Illumina GAIIx	Phase_I	Q16531	DDB1_HUMAN			5	947	-								A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Splice_Site	INS	ENST00000301764.7	37		CCDS31576.1																																																																																				0.515	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923	Intron	12	391						12	391	---	---	---	---
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G	rs548830763		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:61183884_61183885insG	ENST00000394888.4	-	6	829_830	c.657_658insC	c.(655-660)cccagtfs	p.S220fs	CPSF7_ENST00000340437.4_Frame_Shift_Ins_p.S263fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.S211fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.S211fs	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(784-789)ccgtgtfs		cleavage and polyadenylation specific factor 7, 59kDa																																				SO:0001589	frameshift_variant	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61183884_61183885insG		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.658dupC	11.37:g.61183890_61183890dupG	ENSP00000378352:p.Ser220fs		Somatic				CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs	p.C263fs	NM_024811.3	NP_079087.3	WXS	Illumina GAIIx	Phase_I	Q8N684	CPSF7_HUMAN			6	866_867	-			220			Pro-rich.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Frame_Shift_Ins	INS	ENST00000394888.4	37	c.786_787insC	CCDS44619.1																																																																																				0.594	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		13	708						13	708	---	---	---	---
ALDH3B1	221	broad.mit.edu	37	11	67789023	67789024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:67789023_67789024insG	ENST00000539229.1	+	8	745_746	c.629_630insG	c.(628-633)ctggggfs	p.LG210fs	ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000007633.8_Frame_Shift_Ins_p.LG210fs|ALDH3B1_ENST00000342456.6_Frame_Shift_Ins_p.LG174fs|ALDH3B1_ENST00000316367.6_Intron	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	211					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										ACCCTGGAGCTGGGGGGCAAGA	0.634											OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000539229.1																			0											c.(628-630)cggfs		aldehyde dehydrogenase 3 family, member B1	NADH(DB00157)																																			SO:0001589	frameshift_variant	221				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67789023_67789024insG	U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.635dupG	11.37:g.67789029_67789029dupG	ENSP00000474034:p.Leu210fs		Somatic	OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1102	ALDH3B1_ENST00000342456.6_Frame_Shift_Ins_p.R174fs|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000007633.8_Frame_Shift_Ins_p.R210fs	p.R210fs	NM_001161473.1	NP_001154945.1	WXS	Illumina GAIIx	Phase_I	P43353	AL3B1_HUMAN			8	745_746	+			211					A3FMP9|Q53XL5|Q8N515|Q96CK8	Frame_Shift_Ins	INS	ENST00000539229.1	37	c.629_630insG																																																																																					0.634	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000694		9	503						9	503	---	---	---	---
ARRB1	408	broad.mit.edu	37	11	74988494	74988495	+	Splice_Site	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:74988494_74988495insG	ENST00000420843.2	-	9	716		c.e9-2		ARRB1_ENST00000393505.4_Splice_Site|ARRB1_ENST00000360025.3_Splice_Site	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1						activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GTAATAGATCTGGGGGGCATAA	0.55																																						ENST00000420843.2																			0				breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						c.e9-2		arrestin, beta 1																																				SO:0001630	splice_region_variant	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74988494_74988495insG	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.619-2->C	11.37:g.74988500_74988500dupG			Somatic				ARRB1_ENST00000360025.3_Splice_Site|ARRB1_ENST00000393505.4_Splice_Site		NM_004041.4	NP_004032.2	WXS	Illumina GAIIx	Phase_I	P49407	ARRB1_HUMAN			9	716	-								B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Splice_Site	INS	ENST00000420843.2	37		CCDS44684.1																																																																																				0.550	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041	Intron	8	688						8	688	---	---	---	---
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cctfs	p.P471fs	RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000530301.1_Intron|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	471	Glu-rich.|Poly-Pro.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(1411-1413)cccfs		radixin																																				SO:0001589	frameshift_variant	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110104136_110104137insG	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.1413dupC	11.37:g.110104143_110104143dupG	ENSP00000342830:p.Pro471fs		Somatic				RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs	p.P471fs	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	WXS	Illumina GAIIx	Phase_I	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	13	1731_1732	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	471			Glu-rich.|Poly-Pro.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Frame_Shift_Ins	INS	ENST00000343115.4	37	c.1412_1413insC	CCDS8343.1																																																																																				0.431	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		8	342						8	342	---	---	---	---
C11orf88	399949	broad.mit.edu	37	11	111385565	111385566	+	Frame_Shift_Ins	INS	-	-	C	rs570525399	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:111385565_111385566insC	ENST00000375618.4	+	1	56_57	c.56_57insC	c.(55-60)tgccccfs	p.CP19fs	BTG4_ENST00000525791.1_5'Flank|MIR34B_ENST00000385076.1_RNA|C11orf88_ENST00000332814.6_Frame_Shift_Ins_p.CP19fs|BTG4_ENST00000356018.2_5'Flank|MIR34C_ENST00000384831.1_RNA|C11orf88_ENST00000529167.1_Frame_Shift_Ins_p.CP19fs|RP11-794P6.6_ENST00000530283.1_RNA	NM_001100388.1	NP_001093858.1	Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	19										endometrium(1)|large_intestine(3)|lung(2)	6						CAGGAAATGTGCCCCCCGGGAT	0.584											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CCCCCC|CCCCCC|CCCCCCC|insertion	3	0.000599042	0.0023	0.0	5008	,	,		12204	0.0		0.0	False		,,,				2504	0.0					ENST00000529167.1																			0				endometrium(1)|large_intestine(3)|lung(2)	6						c.(55-57)tccfs		chromosome 11 open reading frame 88			,	2,3658		0,2,1828					,	-2.8	0.0			59	1,7885		0,1,3942	no	frameshift,frameshift	C11orf88	NM_207430.2,NM_001100388.1	,	0,3,5770	A1A1,A1R,RR		0.0127,0.0546,0.026	,	,		3,11543				SO:0001589	frameshift_variant	399949							g.chr11:111385565_111385566insC	BC039505, AK128145	CCDS41712.1, CCDS41713.1	11q23.1	2012-08-10			ENSG00000183644	ENSG00000183644			25061	protein-coding gene	gene with protein product	"""hypothetical gene supported by BC039505"""					12477932	Standard	NM_001100388		Approved	FLJ46266	uc009yyd.3	Q6PI97	OTTHUMG00000166720	ENST00000375618.4:c.62dupC	11.37:g.111385571_111385571dupC	ENSP00000364768:p.Cys19fs		Somatic	OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1434	C11orf88_ENST00000375618.4_Frame_Shift_Ins_p.S19fs|RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000332814.6_Frame_Shift_Ins_p.S19fs	p.S19fs			WXS	Illumina GAIIx	Phase_I	Q6PI97	CK088_HUMAN			1	56_57	+			19					E9PAN0|Q6ZRL3	Frame_Shift_Ins	INS	ENST00000375618.4	37	c.56_57insC	CCDS41713.1																																																																																				0.584	C11orf88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391181.1	NM_001100388		7	91						7	91	---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G	rs576548045		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:113076860_113076861insG	ENST00000533760.1	+	5	831_832	c.232_233insG	c.(232-234)cggfs	p.R78fs	NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.R195fs|NCAM1_ENST00000316851.7_Frame_Shift_Ins_p.R186fs|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(556-558)gggfs		neural cell adhesion molecule 1																																				SO:0001589	frameshift_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113076860_113076861insG		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.238dupG	11.37:g.113076866_113076866dupG	ENSP00000473281:p.Arg78fs		Somatic				NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs	p.G186fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	WXS	Illumina GAIIx	Phase_I	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	4	556_557	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	196			Ig-like C2-type 2.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Frame_Shift_Ins	INS	ENST00000533760.1	37	c.556_557insG																																																																																					0.495	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		14	935						14	935	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)gccfs	p.A23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589																																						ENST00000431524.1																			1	Substitution - Missense(1)	p.A23T(1)	endometrium(1)	breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(67-69)cccfs		olfactory receptor, family 10, subfamily G, member 8																																				SO:0001589	frameshift_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900396_123900397insC	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.73dupC	11.37:g.123900402_123900402dupC	ENSP00000389072:p.Ala23fs		Somatic					p.P23fs	NM_001004464.1	NP_001004464.1	WXS	Illumina GAIIx	Phase_I	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	100_101	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	23					B2RNJ3|Q6IEV2	Frame_Shift_Ins	INS	ENST00000431524.1	37	c.67_68insC	CCDS31704.1																																																																																				0.589	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		10	1308						10	1308	---	---	---	---
OR10G7	390265	broad.mit.edu	37	11	123909635	123909636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:123909635_123909636insG	ENST00000330487.5	-	1	81_82	c.73_74insC	c.(73-75)ctcfs	p.L25fs		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	25						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(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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;0.0521)		GATTCCAAAGAGGGGGGCGTCC	0.569																																						ENST00000330487.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(73-75)cttfs		olfactory receptor, family 10, subfamily G, member 7																																				SO:0001589	frameshift_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909635_123909636insG	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.74dupC	11.37:g.123909641_123909641dupG	ENSP00000329689:p.Leu25fs		Somatic					p.L25fs	NM_001004463.1	NP_001004463.1	WXS	Illumina GAIIx	Phase_I	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	81_82	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	25					Q6IFE8	Frame_Shift_Ins	INS	ENST00000330487.5	37	c.73_74insC	CCDS31705.1																																																																																				0.569	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		7	634						7	634	---	---	---	---
PKNOX2	63876	broad.mit.edu	37	11	125267910	125267911	+	Frame_Shift_Ins	INS	-	-	G	rs201952114		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:125267910_125267911insG	ENST00000298282.9	+	7	811_812	c.540_541insG	c.(541-543)gggfs	p.G181fs	PKNOX2_ENST00000542175.1_Frame_Shift_Ins_p.G117fs|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	181					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GGAATGATCTAGGGGGGCCCTA	0.535																																						ENST00000298282.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(538-543)ctggggfs		PBX/knotted 1 homeobox 2																																				SO:0001589	frameshift_variant	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125267910_125267911insG	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.546dupG	11.37:g.125267916_125267916dupG	ENSP00000298282:p.Gly181fs		Somatic				PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Frame_Shift_Ins_p.LG116fs	p.LG180fs	NM_022062.2	NP_071345.2	WXS	Illumina GAIIx	Phase_I	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	7	811_812	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	180					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Frame_Shift_Ins	INS	ENST00000298282.9	37	c.540_541insG	CCDS41730.1																																																																																				0.535	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			8	279						8	279	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6091108	6091109	+	Frame_Shift_Ins	INS	-	-	G	rs368646629|rs267607359|rs267607360		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:6091108_6091109insG	ENST00000261405.5	-	42	7384_7385	c.7130_7131insC	c.(7129-7131)ccgfs	p.P2377fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2377					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.P2377P(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCAAACGGTGCGGGGGGCAGGA	0.604																																						ENST00000261405.5																			1	Substitution - coding silent(1)	p.P2377P(1)	kidney(1)	NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129	GRCh37	CI983256	VWF	I	rs61750632	c.(7129-7131)ccafs		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6091108_6091109insG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7131dupC	12.37:g.6091114_6091114dupG	ENSP00000261405:p.Pro2377fs		Somatic					p.P2377fs	NM_000552.3	NP_000543.2	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			42	7384_7385	-			2377					Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	c.7130_7131insC	CCDS8539.1																																																																																				0.604	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		10	341						10	341	---	---	---	---
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-495)caggggfs	p.QG164fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.QG109fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AAAAACATACAGGGGGGGAAGA	0.564																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(490-492)cggfs		CD4 molecule																																				SO:0001589	frameshift_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6924042_6924043insG	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.498dupG	12.37:g.6924049_6924049dupG	ENSP00000011653:p.Gln164fs		Somatic				CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR	p.R164fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	WXS	Illumina GAIIx	Phase_I	P01730	CD4_HUMAN			5	749_750	+		Myeloproliferative disorder(1001;0.0122)	164			Ig-like C2-type 1.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Ins	INS	ENST00000011653.4	37	c.491_492insG	CCDS8562.1																																																																																				0.564	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		14	504						14	504	---	---	---	---
CD4	920	broad.mit.edu	37	12	6927635	6927636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:6927635_6927636insG	ENST00000011653.4	+	8	1463_1464	c.1205_1206insG	c.(1204-1209)ctggggfs	p.LG402fs		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	402					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	CTGATTGTGCTGGGGGGCGTCG	0.629																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(1204-1206)cggfs		CD4 molecule																																				SO:0001589	frameshift_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6927635_6927636insG	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.1211dupG	12.37:g.6927641_6927641dupG	ENSP00000011653:p.Leu402fs		Somatic					p.R402fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	WXS	Illumina GAIIx	Phase_I	P01730	CD4_HUMAN			8	1463_1464	+		Myeloproliferative disorder(1001;0.0122)	402					B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Ins	INS	ENST00000011653.4	37	c.1205_1206insG	CCDS8562.1																																																																																				0.629	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		9	342						9	342	---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7045027	7045028	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:7045027_7045028insC	ENST00000356654.4	+	5	834_835	c.597_598insC	c.(598-600)cccfs	p.P200fs	ATN1_ENST00000396684.2_Frame_Shift_Ins_p.P200fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	200					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CTCCCATGGAGCCCCCCACATC	0.609																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(595-600)gaccccfs		atrophin 1																																				SO:0001589	frameshift_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045027_7045028insC	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.603dupC	12.37:g.7045033_7045033dupC	ENSP00000349076:p.Pro200fs		Somatic				ATN1_ENST00000396684.2_Frame_Shift_Ins_p.DP199fs	p.DP199fs	NM_001007026.1	NP_001007027.1	WXS	Illumina GAIIx	Phase_I	P54259	ATN1_HUMAN			5	834_835	+			199					Q99495|Q99621|Q9UEK7	Frame_Shift_Ins	INS	ENST00000356654.4	37	c.597_598insC	CCDS31734.1																																																																																				0.609	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		7	389						7	389	---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7045699	7045700	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:7045699_7045700insC	ENST00000356654.4	+	5	1506_1507	c.1269_1270insC	c.(1270-1272)cccfs	p.P424fs	ATN1_ENST00000396684.2_Frame_Shift_Ins_p.P424fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	424					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TCTCCAATCAGCCCCCCAAGTA	0.614																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1267-1272)caccccfs		atrophin 1																																				SO:0001589	frameshift_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045699_7045700insC	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1275dupC	12.37:g.7045705_7045705dupC	ENSP00000349076:p.Pro424fs		Somatic				ATN1_ENST00000396684.2_Frame_Shift_Ins_p.HP423fs	p.HP423fs	NM_001007026.1	NP_001007027.1	WXS	Illumina GAIIx	Phase_I	P54259	ATN1_HUMAN			5	1506_1507	+			423					Q99495|Q99621|Q9UEK7	Frame_Shift_Ins	INS	ENST00000356654.4	37	c.1269_1270insC	CCDS31734.1																																																																																				0.614	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		8	324						8	324	---	---	---	---
C1S	716	broad.mit.edu	37	12	7171652	7171653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:7171652_7171653insC	ENST00000406697.1	+	8	1101_1102	c.473_474insC	c.(472-477)tgccccfs	p.CP158fs	C1S_ENST00000328916.3_Frame_Shift_Ins_p.CP158fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.CP158fs|C1S_ENST00000402681.3_5'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	158	EGF-like; calcium-binding.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTCTGCTCCTGCCCCCCGGAAT	0.455																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(472-474)tccfs		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)																																			SO:0001589	frameshift_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7171652_7171653insC		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.479dupC	12.37:g.7171658_7171658dupC	ENSP00000385035:p.Cys158fs		Somatic				C1S_ENST00000402681.3_5'UTR|C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs|C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs	p.S158fs			WXS	Illumina GAIIx	Phase_I	P09871	C1S_HUMAN			8	1101_1102	+			158			EGF-like; calcium-binding.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Frame_Shift_Ins	INS	ENST00000406697.1	37	c.473_474insC	CCDS31735.1																																																																																				0.455	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		10	449						10	449	---	---	---	---
LRP6	4040	broad.mit.edu	37	12	12274317	12274318	+	Frame_Shift_Ins	INS	-	-	G	rs145639537	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:12274317_12274318insG	ENST00000261349.4	-	23	4660_4661	c.4584_4585insC	c.(4582-4587)cccaccfs	p.T1529fs	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Frame_Shift_Ins_p.T1484fs	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1529					anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CAGGGTGTGGTGGGGGGTGCAA	0.465																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(4582-4587)ccccacfs		low density lipoprotein receptor-related protein 6																																				SO:0001589	frameshift_variant	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12274317_12274318insG	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.4585dupC	12.37:g.12274323_12274323dupG	ENSP00000261349:p.Thr1529fs		Somatic				LRP6_ENST00000543091.1_Frame_Shift_Ins_p.H1484fs|BCL2L14_ENST00000396369.1_Intron	p.H1529fs	NM_002336.2	NP_002327.2	WXS	Illumina GAIIx	Phase_I	O75581	LRP6_HUMAN			23	4660_4661	-		Prostate(47;0.0865)	1529					Q17RZ2	Frame_Shift_Ins	INS	ENST00000261349.4	37	c.4584_4585insC	CCDS8647.1																																																																																				0.465	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			7	635						7	635	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:13142224_13142225insC	ENST00000014930.4	-	2	361_362	c.203_204insG	c.(202-204)ggcfs	p.G68fs	HEBP1_ENST00000536942.1_Frame_Shift_Ins_p.G68fs	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554																																						ENST00000536942.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(202-204)gacfs		heme binding protein 1																																				SO:0001589	frameshift_variant	50865				circadian rhythm	extracellular region		g.chr12:13142224_13142225insC	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.204dupG	12.37:g.13142230_13142230dupC	ENSP00000014930:p.Gly68fs		Somatic				HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs	p.D68fs			WXS	Illumina GAIIx	Phase_I	Q9NRV9	HEBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	2	353_354	-		Prostate(47;0.183)	68					A8K1G2|Q9Y5Z5	Frame_Shift_Ins	INS	ENST00000014930.4	37	c.203_204insG	CCDS31749.1																																																																																				0.554	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			23	1194						23	1194	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206|rs398122823		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:14019043_14019044insG	ENST00000609686.1	-	2	308_309	c.99_100insC	c.(97-102)cccagcfs	p.S34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					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)	ATGCCAATGCTGGGGGGGCTCT	0.589																																						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.(97-102)ccgcatfs		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)																																			SO:0001589	frameshift_variant	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.chr12:14019043_14019044insG		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.100dupC	12.37:g.14019050_14019050dupG	ENSP00000477455:p.Ser34fs		Somatic					p.H34fs	NM_000834.3	NP_000825.2	WXS	Illumina GAIIx	Phase_I	Q13224	NMDE2_HUMAN			2	308_309	-			34					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Frame_Shift_Ins	INS	ENST00000609686.1	37	c.99_100insC	CCDS8662.1																																																																																				0.589	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			19	239						19	239	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G	rs200088180		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:49445525_49445526insG	ENST00000301067.7	-	10	1939_1940	c.1940_1941insC	c.(1939-1941)ccafs	p.P647fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	647	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ATACCTCAGGTGGGGGGGACAT	0.634																																						ENST00000301067.7																			0											c.(1939-1941)cccfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49445525_49445526insG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1941dupC	12.37:g.49445532_49445532dupG	ENSP00000301067:p.Pro647fs		Somatic					p.P647fs	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					10	1939_1940	-								O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.1940_1941insC	CCDS44873.1																																																																																				0.634	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			11	264						11	264	---	---	---	---
ITGA7	3679	broad.mit.edu	37	12	56094098	56094099	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:56094098_56094099insC	ENST00000555728.1	-	5	777_778	c.749_750insG	c.(748-750)ggafs	p.G250fs	ITGA7_ENST00000257880.7_Frame_Shift_Ins_p.G250fs|ITGA7_ENST00000257879.6_Intron|ITGA7_ENST00000452168.2_Frame_Shift_Ins_p.G153fs|ITGA7_ENST00000347027.6_Intron|ITGA7_ENST00000394230.2_Frame_Shift_Ins_p.G250fs|ITGA7_ENST00000553804.1_Frame_Shift_Ins_p.G250fs|ITGA7_ENST00000394229.2_Intron			Q13683	ITA7_HUMAN	integrin, alpha 7	250					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCTCCTTCTCTCCCCCCGCCTC	0.649																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(748-750)ggafs		integrin, alpha 7																																				SO:0001589	frameshift_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56094098_56094099insC		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.750dupG	12.37:g.56094104_56094104dupC	ENSP00000452387:p.Gly250fs		Somatic				ITGA7_ENST00000347027.6_Intron|ITGA7_ENST00000555728.1_Frame_Shift_Ins_p.G250fs|ITGA7_ENST00000257879.6_Intron|ITGA7_ENST00000452168.2_Frame_Shift_Ins_p.G153fs|ITGA7_ENST00000553804.1_Frame_Shift_Ins_p.G250fs|ITGA7_ENST00000394229.2_Intron|ITGA7_ENST00000394230.2_Frame_Shift_Ins_p.G250fs	p.G250fs			WXS	Illumina GAIIx	Phase_I	Q13683	ITA7_HUMAN			5	968_969	-			250					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Frame_Shift_Ins	INS	ENST00000555728.1	37	c.749_750insG																																																																																					0.649	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		7	221						7	221	---	---	---	---
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2170-2172)cccfs	p.P724fs	DGKA_ENST00000394147.1_Frame_Shift_Ins_p.P724fs|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.P724fs|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	724					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(2167-2172)ccccccfs		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)																																			SO:0001589	frameshift_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56347513_56347514insC	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2176dupC	12.37:g.56347520_56347520dupC	ENSP00000328405:p.Pro724fs		Somatic				DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs	p.PP723fs	NM_001345.4	NP_001336.2	WXS	Illumina GAIIx	Phase_I	P23743	DGKA_HUMAN			24	2623_2624	+			723					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Frame_Shift_Ins	INS	ENST00000331886.5	37	c.2169_2170insC	CCDS8896.1																																																																																				0.579	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			17	309						17	309	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56559112	56559113	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:56559112_56559113insG	ENST00000267064.4	-	26	3214_3215	c.3128_3129insC	c.(3127-3129)cctfs	p.P1043fs	SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.P1074fs|SMARCC2_ENST00000394023.3_Frame_Shift_Ins_p.P1074fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.P1074fs|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1043	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CATGGGGTCCAGGGGGGGGAAC	0.574																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3220-3222)cggfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001589	frameshift_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56559112_56559113insG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3129dupC	12.37:g.56559120_56559120dupG	ENSP00000267064:p.Pro1043fs		Somatic				SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.R1074fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.R1074fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.R1043fs	p.R1074fs	NM_001130420.1	NP_001123892.1	WXS	Illumina GAIIx	Phase_I	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		27	3326_3327	-			1043			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Ins	INS	ENST00000267064.4	37	c.3221_3222insC	CCDS8907.1																																																																																				0.574	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			12	285						12	285	---	---	---	---
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)cccaagfs	p.K490fs	STAT2_ENST00000557235.1_Frame_Shift_Ins_p.K486fs|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_3'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(1465-1470)ccaggcfs		signal transducer and activator of transcription 2, 113kDa																																				SO:0001589	frameshift_variant	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56742816_56742817insG	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1468dupC	12.37:g.56742823_56742823dupG	ENSP00000315768:p.Lys490fs		Somatic				STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_3'UTR	p.G490fs			WXS	Illumina GAIIx	Phase_I	P52630	STAT2_HUMAN			17	1490_1491	-			490					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Frame_Shift_Ins	INS	ENST00000314128.4	37	c.1467_1468insC	CCDS8917.1																																																																																				0.594	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		9	250						9	250	---	---	---	---
BAZ2A	11176	broad.mit.edu	37	12	57009177	57009178	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:57009177_57009178insC	ENST00000551812.1	-	3	549_550	c.356_357insG	c.(355-357)ggafs	p.G119fs	BAZ2A_ENST00000179765.5_Frame_Shift_Ins_p.G117fs|BAZ2A_ENST00000549884.1_Frame_Shift_Ins_p.G117fs|BAZ2A_ENST00000379441.3_Frame_Shift_Ins_p.G119fs	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	119					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GTGGGTATTGTCCCCCCGAGAA	0.584																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(349-351)gcafs		bromodomain adjacent to zinc finger domain, 2A																																				SO:0001589	frameshift_variant	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57009177_57009178insC	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.357dupG	12.37:g.57009183_57009183dupC	ENSP00000446880:p.Gly119fs		Somatic				BAZ2A_ENST00000379441.3_Frame_Shift_Ins_p.A119fs|BAZ2A_ENST00000551812.1_Frame_Shift_Ins_p.A119fs|BAZ2A_ENST00000549884.1_Frame_Shift_Ins_p.A117fs	p.A117fs			WXS	Illumina GAIIx	Phase_I	Q9UIF9	BAZ2A_HUMAN			3	549_550	-			119					B3KN66|O00536|O15030|Q68DI8|Q96H26	Frame_Shift_Ins	INS	ENST00000551812.1	37	c.350_351insG	CCDS44924.1																																																																																				0.584	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		7	381						7	381	---	---	---	---
ZBTB39	9880	broad.mit.edu	37	12	57396635	57396636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:57396635_57396636insG	ENST00000300101.2	-	2	2151_2152	c.2066_2067insC	c.(2065-2067)cctfs	p.P689fs		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	689			P -> A (in dbSNP:rs3741576).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGGTGAAGTCAGGGGGGAGGCT	0.569																																						ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(2065-2067)cgafs		zinc finger and BTB domain containing 39																																				SO:0001589	frameshift_variant	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57396635_57396636insG	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.2067dupC	12.37:g.57396641_57396641dupG	ENSP00000300101:p.Pro689fs		Somatic					p.R689fs	NM_014830.2	NP_055645.1	WXS	Illumina GAIIx	Phase_I	O15060	ZBT39_HUMAN			2	2151_2152	-			689		P -> A (in dbSNP:rs3741576).			A7MD38|Q9UD98	Frame_Shift_Ins	INS	ENST00000300101.2	37	c.2066_2067insC	CCDS31839.1																																																																																				0.569	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		7	500						7	500	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57572241	57572242	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:57572241_57572242insG	ENST00000243077.3	+	27	4927_4928	c.4461_4462insG	c.(4462-4464)gggfs	p.G1488fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1488					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGGT	0.589																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(4459-4464)taggggfs		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57572241_57572242insG	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4468dupG	12.37:g.57572248_57572248dupG	ENSP00000243077:p.Gly1488fs		Somatic					p.*G1487fs	NM_002332.2	NP_002323.2	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	27	4927_4928	+			1487					Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Ins	INS	ENST00000243077.3	37	c.4461_4462insG	CCDS8932.1																																																																																				0.589	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		11	257						11	257	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G	rs368789621		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)tggfs	p.W272fs	GLI1_ENST00000543426.1_Frame_Shift_Ins_p.W144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.W231fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(814-816)gggfs		GLI family zinc finger 1																																				SO:0001589	frameshift_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57860074_57860075insG		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.821dupG	12.37:g.57860081_57860081dupG	ENSP00000228682:p.Trp272fs		Somatic				GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs|GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs	p.G272fs	NM_005269.2	NP_005260.1	WXS	Illumina GAIIx	Phase_I	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		8	905_906	+			272					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Frame_Shift_Ins	INS	ENST00000228682.2	37	c.814_815insG	CCDS8940.1																																																																																				0.599	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		64	1046						64	1046	---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57972047	57972048	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:57972047_57972048insG	ENST00000455537.2	+	23	2734_2735	c.2460_2461insG	c.(2461-2463)gggfs	p.G821fs	KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.G732fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	821					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCGAAGACAGTGGGGGGATTCA	0.505																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(2458-2463)agggggfs		kinesin family member 5A																																				SO:0001589	frameshift_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57972047_57972048insG	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2466dupG	12.37:g.57972053_57972053dupG	ENSP00000408979:p.Gly821fs		Somatic				KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.RG731fs	p.RG820fs	NM_004984.2	NP_004975.2	WXS	Illumina GAIIx	Phase_I	Q12840	KIF5A_HUMAN			23	2734_2735	+			820					A6H8M5|Q4LE26	Frame_Shift_Ins	INS	ENST00000455537.2	37	c.2460_2461insG	CCDS8945.1																																																																																				0.505	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		7	961						7	961	---	---	---	---
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)cccaggfs	p.R445fs	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.R232fs|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.R339fs	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	445					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1330-1335)ccgggcfs		bestrophin 3																																				SO:0001589	frameshift_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70049361_70049362insG	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1333dupC	12.37:g.70049368_70049368dupG	ENSP00000332413:p.Arg445fs		Somatic				BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs|BEST3_ENST00000331471.4_Intron	p.PG444fs	NM_032735.2	NP_116124.2	WXS	Illumina GAIIx	Phase_I	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1558_1559	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		444					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Frame_Shift_Ins	INS	ENST00000330891.5	37	c.1332_1333insC	CCDS8992.2																																																																																				0.594	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		8	315						8	315	---	---	---	---
NEDD1	121441	broad.mit.edu	37	12	97311397	97311404	+	Splice_Site	DEL	AGCAAAAG	AGCAAAAG	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:97311397_97311404delAGCAAAAG	ENST00000266742.4	+	5	570_576	c.231_237delAGCAAAAG	c.(229-237)ggagcaaaa>gg	p.GAK77fs	NEDD1_ENST00000411739.2_5'UTR|NEDD1_ENST00000429527.2_Splice_Site_p.GAK77fs|NEDD1_ENST00000457368.2_5'UTR|NEDD1_ENST00000555114.1_Intron|NEDD1_ENST00000557644.1_Splice_Site_p.GAK84fs	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	77					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						ttttttaaataGCAAAAGCAGACATGTG	0.303																																						ENST00000266742.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						c.e5-1		neural precursor cell expressed, developmentally down-regulated 1																																				SO:0001630	splice_region_variant	121441				cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		g.chr12:97311397_97311404delAGCAAAAG		CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.232-1AGCAAAAG>-	12.37:g.97311397_97311404delAGCAAAAG			Somatic				NEDD1_ENST00000557644.1_Splice_Site_p.84_splice|NEDD1_ENST00000429527.2_Splice_Site_p.77_splice|NEDD1_ENST00000555114.1_Intron|NEDD1_ENST00000457368.2_5'UTR|NEDD1_ENST00000411739.2_5'UTR	p.77_splice	NM_152905.3	NP_690869.1	WXS	Illumina GAIIx	Phase_I	Q8NHV4	NEDD1_HUMAN			5	570_576	+			77					B0AZN0|B4E145|G3V3F1|Q8NA30	Splice_Site	DEL	ENST00000266742.4	37	c.231_splice	CCDS9063.1																																																																																				0.303	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1		Frame_Shift_Del	13	101						13	101	---	---	---	---
MYL2	4633	broad.mit.edu	37	12	111348950	111348951	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:111348950_111348951insG	ENST00000228841.8	-	7	478_479	c.431_432insC	c.(430-432)cctfs	p.P144fs	MYL2_ENST00000548438.1_Frame_Shift_Ins_p.P130fs	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	144	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle cell fate specification (GO:0042694)|muscle fiber development (GO:0048747)|muscle filament sliding (GO:0030049)|negative regulation of cell growth (GO:0030308)|post-embryonic development (GO:0009791)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|myofibril (GO:0030016)|myosin complex (GO:0016459)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CAGTCACGTCAGGGGGGAAGGC	0.624																																					GBM(14;268 426 18829 21617 25540)	ENST00000228841.8																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						c.(430-432)cgafs		myosin, light chain 2, regulatory, cardiac, slow																																				SO:0001589	frameshift_variant	4633				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	g.chr12:111348950_111348951insG		CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245		"""Myosins / Light chain"", ""EF-hand domain containing"""	7583	protein-coding gene	gene with protein product	"""cardiac ventricular myosin light chain 2"""	160781	"""myosin, light polypeptide 2, regulatory, cardiac, slow"""			1386340	Standard	NM_000432		Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.432dupC	12.37:g.111348956_111348956dupG	ENSP00000228841:p.Pro144fs		Somatic				MYL2_ENST00000548438.1_Frame_Shift_Ins_p.R130fs	p.R144fs	NM_000432.3	NP_000423.2	WXS	Illumina GAIIx	Phase_I	P10916	MLRV_HUMAN			7	478_479	-			144			EF-hand 3.		Q16123	Frame_Shift_Ins	INS	ENST00000228841.8	37	c.431_432insC	CCDS31901.1																																																																																				0.624	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404677.2	NM_000432		8	832						8	832	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112600859	112600860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:112600859_112600860insG	ENST00000430131.2	-	74	12985_12986	c.11840_11841insC	c.(11839-11841)ccafs	p.P3947fs	HECTD4_ENST00000549141.1_5'Flank|HECTD4_ENST00000550722.1_Frame_Shift_Ins_p.P4223fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.P4197fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3947	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTGTGCCATCTGGGGGGGCGAT	0.629																																						ENST00000550722.1																			0											c.(12667-12669)cgafs		HECT domain containing E3 ubiquitin protein ligase 4																																				SO:0001589	frameshift_variant	283450							g.chr12:112600859_112600860insG	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11841dupC	12.37:g.112600866_112600866dupG	ENSP00000404379:p.Pro3947fs		Somatic				HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.R3947fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.R4197fs	p.R4223fs	NM_001109662.3	NP_001103132.3	WXS	Illumina GAIIx	Phase_I					75	13063_13064	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	ENST00000430131.2	37	c.12668_12669insC																																																																																					0.629	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		23	312						23	312	---	---	---	---
KSR2	283455	broad.mit.edu	37	12	117977604	117977605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:117977604_117977605insG	ENST00000339824.5	-	10	2333_2334	c.1606_1607insC	c.(1606-1608)ctcfs	p.L536fs	KSR2_ENST00000302438.5_Frame_Shift_Ins_p.L233fs|KSR2_ENST00000425217.1_Frame_Shift_Ins_p.L507fs|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGCT	0.634																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1519-1521)cccfs		kinase suppressor of ras 2																																				SO:0001589	frameshift_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977604_117977605insG	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1607dupC	12.37:g.117977611_117977611dupG	ENSP00000339952:p.Leu536fs		Somatic				KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs|KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs|KSR2_ENST00000545002.1_5'UTR	p.P507fs	NM_173598.4	NP_775869.3	WXS	Illumina GAIIx	Phase_I	Q6VAB6	KSR2_HUMAN			10	1573_1574	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		536					A0PJT2|Q3B828|Q8N775	Frame_Shift_Ins	INS	ENST00000339824.5	37	c.1519_1520insC																																																																																					0.634	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		7	176						7	176	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)gggctgfs	p.L116fs	MSI1_ENST00000546622.1_5'Flank	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(343-348)ggtgtcfs		musashi RNA-binding protein 1																																				SO:0001589	frameshift_variant	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120800902_120800903insC	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.346dupG	12.37:g.120800909_120800909dupC	ENSP00000257552:p.Leu116fs		Somatic					p.V116fs	NM_002442.3	NP_002433.1	WXS	Illumina GAIIx	Phase_I	O43347	MSI1H_HUMAN			6	433_434	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		116			RRM 2.		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Frame_Shift_Ins	INS	ENST00000257552.2	37	c.345_346insG	CCDS9196.1																																																																																				0.564	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		20	334						20	334	---	---	---	---
LOC100128554	100128554	broad.mit.edu	37	12	126944158	126944161	+	lincRNA	DEL	AAGG	AAGG	-	rs370957632|rs199611887		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:126944158_126944161delAAGG	ENST00000397346.3	+	0	1031																											ggaaggaagaaaggaaggaaggaa	0.382																																						ENST00000397346.3																			0																																																			0							g.chr12:126944158_126944161delAAGG																													12.37:g.126944166_126944169delAAGG			Somatic								WXS	Illumina GAIIx	Phase_I					0	1031	+									RNA	DEL	ENST00000397346.3	37																																																																																						0.382	RP5-944M2.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000399847.1			3	3						3	3	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133245023	133245024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:133245023_133245024insG	ENST00000320574.5	-	19	2134_2135	c.2091_2092insC	c.(2089-2094)cccttgfs	p.PL697fs	POLE_ENST00000535270.1_Frame_Shift_Ins_p.PL670fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	697					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TCTGGGAACAAGGGGGGGAACT	0.599								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(2089-2094)cctgttfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit																																				SO:0001589	frameshift_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133245023_133245024insG		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2092dupC	12.37:g.133245030_133245030dupG	ENSP00000322570:p.Pro697fs		Somatic				POLE_ENST00000535270.1_Frame_Shift_Ins_p.V671fs	p.V698fs	NM_006231.2	NP_006222.2	WXS	Illumina GAIIx	Phase_I	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	19	2134_2135	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	698					Q13533|Q86VH9	Frame_Shift_Ins	INS	ENST00000320574.5	37	c.2091_2092insC	CCDS9278.1																																																																																				0.599	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		13	285						13	285	---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080|rs370605552	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggcgafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.47																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1324-1329)gggagafs		kelch repeat and BTB (POZ) domain containing 6																																				SO:0001589	frameshift_variant	89890						protein binding	g.chr13:41705321_41705322insC	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1327dupG	13.37:g.41705328_41705328dupC	ENSP00000368799:p.Arg443fs		Somatic				KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	p.R443fs	NM_152903.4	NP_690867.3	WXS	Illumina GAIIx	Phase_I	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1560_1561	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	443					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Frame_Shift_Ins	INS	ENST00000379485.1	37	c.1326_1327insG	CCDS9376.1																																																																																				0.470	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		9	230						9	230	---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52532497	52532498	+	Frame_Shift_Ins	INS	-	-	G	rs193922103|rs137853287|rs587779354		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr13:52532497_52532498insG	ENST00000242839.4	-	8	2460_2461	c.2304_2305insC	c.(2302-2307)cccatgfs	p.M769fs	ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000400366.3_Frame_Shift_Ins_p.M658fs|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.M769fs|ATP7B_ENST00000417240.2_Frame_Shift_Ins_p.M41fs	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	769			M -> I (in WD). {ECO:0000269|PubMed:10790207}.|M -> R (in WD).|M -> V (in WD). {ECO:0000269|PubMed:11690702}.		cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ACAAAGAGCATGGGGGGCGTGT	0.52									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55	GRCh37	CD982475|CI951903|CM992596	ATP7B	D|I|M		c.(2302-2307)cctgctfs		ATPase, Cu++ transporting, beta polypeptide																																				SO:0001589	frameshift_variant	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52532497_52532498insG	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.2305dupC	13.37:g.52532503_52532503dupG	ENSP00000242839:p.Met769fs		Somatic				ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.A769fs|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000417240.2_Frame_Shift_Ins_p.A41fs|ATP7B_ENST00000400366.3_Frame_Shift_Ins_p.A658fs|ATP7B_ENST00000400370.3_Intron	p.A769fs	NM_000053.3	NP_000044.2	WXS	Illumina GAIIx	Phase_I	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	8	2460_2461	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	769		M -> I (in WD).|M -> R (in WD).|M -> V (in WD).			Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Frame_Shift_Ins	INS	ENST00000242839.4	37	c.2304_2305insC	CCDS41892.1																																																																																				0.520	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		7	670						7	670	---	---	---	---
MBNL2	10150	broad.mit.edu	37	13	97928603	97928604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr13:97928603_97928604insC	ENST00000376673.3	+	2	895_896	c.114_115insC	c.(115-117)cccfs	p.P39fs	MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.P39fs|MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.P39fs|MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.P39fs|MBNL2_ENST00000345429.6_Frame_Shift_Ins_p.P39fs			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	39					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AATTTGCTCATCCCCCCAAAAG	0.411																																						ENST00000345429.6																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17						c.(112-117)caccccfs		muscleblind-like splicing regulator 2																																				SO:0001589	frameshift_variant	10150				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr13:97928603_97928604insC	AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"""Zinc fingers, CCCH-type domain containing"""	16746	protein-coding gene	gene with protein product		607327	"""muscleblind-like 2 (Drosophila)"""			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.120dupC	13.37:g.97928609_97928609dupC	ENSP00000365861:p.Pro39fs		Somatic				MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000376673.3_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.HP38fs	p.HP38fs	NM_144778.3	NP_659002.1	WXS	Illumina GAIIx	Phase_I	Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)		2	895_896	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		38					Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Frame_Shift_Ins	INS	ENST00000376673.3	37	c.114_115insC																																																																																					0.411	MBNL2-202	KNOWN	basic	protein_coding	protein_coding		NM_144778		9	456						9	456	---	---	---	---
ARHGEF40	55701	broad.mit.edu	37	14	21546603	21546604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:21546603_21546604insG	ENST00000298694.4	+	10	2329_2330	c.2202_2203insG	c.(2203-2205)gggfs	p.G735fs	ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.G735fs			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	735						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGCAGAGGGATGGGGGGGCCAT	0.629																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(2200-2205)gaggggfs		Rho guanine nucleotide exchange factor (GEF) 40																																				SO:0001589	frameshift_variant	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21546603_21546604insG		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2209dupG	14.37:g.21546610_21546610dupG	ENSP00000298694:p.Gly735fs		Somatic				ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.EG734fs	p.EG734fs			WXS	Illumina GAIIx	Phase_I	Q8TER5	ARH40_HUMAN			10	2329_2330	+			734					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Frame_Shift_Ins	INS	ENST00000298694.4	37	c.2202_2203insG	CCDS32041.1																																																																																				0.629	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			13	378						13	378	---	---	---	---
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)cccaagfs	p.K1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.48																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(3124-3129)ccagaafs		suppressor of Ty 16 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21820849_21820850insG	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.3127dupC	14.37:g.21820855_21820855dupG	ENSP00000216297:p.Lys1043fs		Somatic					p.E1043fs	NM_007192.3	NP_009123.1	WXS	Illumina GAIIx	Phase_I	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	26	3464_3465	-	all_cancers(95;0.00115)		1043					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Frame_Shift_Ins	INS	ENST00000216297.2	37	c.3126_3127insC	CCDS9569.1																																																																																				0.480	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			9	572						9	572	---	---	---	---
OR10G2	26534	broad.mit.edu	37	14	22102924	22102925	+	Frame_Shift_Ins	INS	-	-	G	rs150140072	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:22102924_22102925insG	ENST00000542433.1	-	1	171_172	c.74_75insC	c.(73-75)ccafs	p.P25fs		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTCTTAGATTTGGGGGGTGAGA	0.48																																						ENST00000542433.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(73-75)caafs		olfactory receptor, family 10, subfamily G, member 2																																				SO:0001589	frameshift_variant	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102924_22102925insG		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.75dupC	14.37:g.22102930_22102930dupG	ENSP00000445383:p.Pro25fs		Somatic					p.Q25fs	NM_001005466.1	NP_001005466.1	WXS	Illumina GAIIx	Phase_I	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	171_172	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	25					B2RPD0	Frame_Shift_Ins	INS	ENST00000542433.1	37	c.74_75insC	CCDS32047.1																																																																																				0.480	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			11	363						11	363	---	---	---	---
IRF9	10379	broad.mit.edu	37	14	24633132	24633134	+	In_Frame_Del	DEL	AGC	AGC	-	rs199740615		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:24633132_24633134delAGC	ENST00000396864.3	+	5	828_830	c.541_543delAGC	c.(541-543)agcdel	p.S187del	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_In_Frame_Del_p.S85del	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	187	Poly-Ser.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AGACATTGGGagcagcagcagca	0.567																																						ENST00000396864.3																			0				NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(541-543)del		interferon regulatory factor 9				167,4097		0,167,1965						-2.5	0.0			53	342,7912		0,342,3785	no	coding	IRF9	NM_006084.4		0,509,5750	A1A1,A1R,RR		4.1434,3.9165,4.0661				509,12009				SO:0001651	inframe_deletion	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24633132_24633134delAGC	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.541_543delAGC	14.37:g.24633141_24633143delAGC	ENSP00000380073:p.Ser187del		Somatic				RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_In_Frame_Del_p.S85del	p.S187del	NM_006084.4	NP_006075.3	WXS	Illumina GAIIx	Phase_I	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	5	828_830	+			187			Poly-Ser.		D3DS61	In_Frame_Del	DEL	ENST00000396864.3	37	c.541_543delAGC	CCDS9615.1																																																																																				0.567	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			7	271						7	271	---	---	---	---
CTSG	1511	broad.mit.edu	37	14	25042847	25042848	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:25042847_25042848insG	ENST00000216336.2	-	5	799_800	c.763_764insC	c.(763-765)ctgfs	p.L255fs		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	255					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		AGTCAGTCACAGGGGGGTCTCC	0.49																																						ENST00000216336.2																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(763-765)gtgfs		cathepsin G																																				SO:0001589	frameshift_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25042847_25042848insG	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.764dupC	14.37:g.25042853_25042853dupG	ENSP00000216336:p.Leu255fs		Somatic					p.V255fs	NM_001911.2	NP_001902.1	WXS	Illumina GAIIx	Phase_I	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	5	799_800	-			255					Q6IBJ6|Q9UCA5|Q9UCU6	Frame_Shift_Ins	INS	ENST00000216336.2	37	c.763_764insC	CCDS9631.1																																																																																				0.490	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		7	1013						7	1013	---	---	---	---
PRKCH	5583	broad.mit.edu	37	14	61952228	61952229	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:61952228_61952229insT	ENST00000332981.5	+	10	1672_1673	c.1287_1288insT	c.(1288-1290)tttfs	p.F430fs	PRKCH_ENST00000555082.1_Frame_Shift_Ins_p.F269fs	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	430	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		AGGATCGTCTGTTTTTTGTGAT	0.46																																					Melanoma(135;863 1779 8064 14443 26348)	ENST00000332981.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1285-1290)ctttttfs		protein kinase C, eta																																				SO:0001589	frameshift_variant	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:61952228_61952229insT	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1293dupT	14.37:g.61952234_61952234dupT	ENSP00000329127:p.Phe430fs		Somatic				PRKCH_ENST00000555082.1_Frame_Shift_Ins_p.LF268fs	p.LF429fs	NM_006255.3	NP_006246.2	WXS	Illumina GAIIx	Phase_I	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	10	1672_1673	+			429			Protein kinase.		B4DJN5|Q16246|Q8NE03	Frame_Shift_Ins	INS	ENST00000332981.5	37	c.1287_1288insT	CCDS9752.1																																																																																				0.460	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		7	1925						7	1925	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75248518	75248519	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:75248518_75248519insC	ENST00000552421.1	+	4	1896_1897	c.1772_1773insC	c.(1771-1776)ctccccfs	p.LP591fs	YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000325680.7_Frame_Shift_Ins_p.LP591fs			P49750	YLPM1_HUMAN	YLP motif containing 1	0					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCACCAGTTCTCCCCCCACCTT	0.599																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(1771-1773)cccfs		YLP motif containing 1																																				SO:0001589	frameshift_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75248518_75248519insC	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1778dupC	14.37:g.75248524_75248524dupC	ENSP00000447921:p.Leu591fs		Somatic				YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000552421.1_Frame_Shift_Ins_p.P591fs	p.P591fs	NM_019589.2	NP_062535.2	WXS	Illumina GAIIx	Phase_I	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	4	1896_1897	+			392					P49752|Q96I64|Q9P1V7	Frame_Shift_Ins	INS	ENST00000552421.1	37	c.1772_1773insC																																																																																					0.599	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		10	564						10	564	---	---	---	---
IGHG3	3502	broad.mit.edu	37	14	106236280	106236281	+	RNA	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:106236280_106236281insG	ENST00000390551.2	-	0	522_523							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m 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)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CCTTGGGTTTTGGGGGGAAGAG	0.594																																						ENST00000390551.2																			0																																																			3502							g.chr14:106236280_106236281insG	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106236286_106236286dupG			Somatic								WXS	Illumina GAIIx	Phase_I					0	522_523	-								A2NU35	RNA	INS	ENST00000390551.2	37																																																																																						0.594	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	NG_001019		10	322						10	322	---	---	---	---
IGHV4-39	28394	broad.mit.edu	37	14	106877817	106877819	+	RNA	DEL	ACT	ACT	-	rs139927975|rs113800876|rs367947132	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:106877817_106877819delACT	ENST00000390619.2	-	0	224_226									immunoglobulin heavy variable 4-39																		CCCAGTAGTAACTACTACTGCTG	0.596																																						ENST00000390619.2																			0																	1153,2423		29,1095,664						-0.6	0.0		dbSNP_134	58	1515,6297		125,1265,2516	no	intergenic				154,2360,3180	A1A1,A1R,RR		19.3932,32.2427,23.4282				2668,8720						28394							g.chr14:106877817_106877819delACT	L10094		14q32.33	2012-02-08			ENSG00000211959	ENSG00000211959		"""Immunoglobulins / IGH locus"""	5651	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152067		14.37:g.106877823_106877825delACT			Somatic								WXS	Illumina GAIIx	Phase_I					0	224_226	-									RNA	DEL	ENST00000390619.2	37																																																																																						0.596	IGHV4-39-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325161.1	NG_001019		14	71						14	71	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28478873	28478874	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:28478873_28478874insG	ENST00000261609.7	-	28	4395_4396	c.4287_4288insC	c.(4285-4290)cccgagfs	p.E1430fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.P1429P(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGGGATGCTCGGGGGGAAACA	0.45																																						ENST00000261609.7																			1	Substitution - coding silent(1)	p.P1429P(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(4285-4290)ccagcafs		HECT and RLD domain containing E3 ubiquitin protein ligase 2																																				SO:0001589	frameshift_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28478873_28478874insG	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.4288dupC	15.37:g.28478879_28478879dupG	ENSP00000261609:p.Glu1430fs		Somatic					p.A1430fs	NM_004667.5	NP_004658.3	WXS	Illumina GAIIx	Phase_I	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	28	4395_4396	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1430						Frame_Shift_Ins	INS	ENST00000261609.7	37	c.4287_4288insC	CCDS10021.1																																																																																				0.450	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		8	416						8	416	---	---	---	---
DUOX1	53905	broad.mit.edu	37	15	45457005	45457006	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:45457005_45457006insC	ENST00000321429.4	+	35	4969_4970	c.4562_4563insC	c.(4561-4566)ggccccfs	p.GP1521fs	DUOX1_ENST00000561166.1_Frame_Shift_Ins_p.GP1167fs|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Frame_Shift_Ins_p.GP1521fs	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1521					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.G1524fs*26(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TTTAGCTGTGGCCCCCCTGGCA	0.545																																						ENST00000321429.4																			1	Insertion - Frameshift(1)	p.G1524fs*26(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(4561-4563)gccfs		dual oxidase 1																																				SO:0001589	frameshift_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45457005_45457006insC	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4568dupC	15.37:g.45457011_45457011dupC	ENSP00000317997:p.Gly1521fs		Somatic				DUOX1_ENST00000389037.3_Frame_Shift_Ins_p.A1521fs|DUOX1_ENST00000561166.1_Frame_Shift_Ins_p.A1167fs|CTD-2651B20.1_ENST00000558039.1_lincRNA	p.A1521fs	NM_017434.3	NP_059130.2	WXS	Illumina GAIIx	Phase_I	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	35	4969_4970	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1521					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Frame_Shift_Ins	INS	ENST00000321429.4	37	c.4562_4563insC	CCDS32221.1																																																																																				0.545	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		9	811						9	811	---	---	---	---
RFX7	64864	broad.mit.edu	37	15	56386880	56386881	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:56386880_56386881insG	ENST00000559447.2	-	9	3025_3026	c.2754_2755insC	c.(2752-2757)cccagcfs	p.S919fs	RFX7_ENST00000317318.6_Frame_Shift_Ins_p.S1016fs|RFX7_ENST00000422057.1_Frame_Shift_Ins_p.S919fs|RFX7_ENST00000423270.1_Frame_Shift_Ins_p.S1016fs			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	919					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TCAACAGGGCTGGGGGGGACAC	0.5																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(3043-3048)ccgcccfs		regulatory factor X, 7																																				SO:0001589	frameshift_variant	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56386880_56386881insG			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.2755dupC	15.37:g.56386887_56386887dupG	ENSP00000453281:p.Ser919fs		Somatic				RFX7_ENST00000422057.1_Frame_Shift_Ins_p.P919fs|RFX7_ENST00000317318.6_Frame_Shift_Ins_p.P1016fs|RFX7_ENST00000559447.2_Frame_Shift_Ins_p.P919fs	p.P1016fs	NM_022841.5	NP_073752.5	WXS	Illumina GAIIx	Phase_I	Q2KHR2	RFX7_HUMAN			9	3044_3045	-			919					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Frame_Shift_Ins	INS	ENST00000559447.2	37	c.3045_3046insC																																																																																					0.500	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		7	178						7	178	---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64973566	64973567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:64973566_64973567insC	ENST00000326648.3	+	8	4349_4350	c.4221_4222insC	c.(4222-4224)cccfs	p.P1408fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1408						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTCTACCCACCCCCCAGGAG	0.47											OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(4219-4224)ccccccfs		zinc finger protein 609																																				SO:0001589	frameshift_variant	23060					nucleus	zinc ion binding	g.chr15:64973566_64973567insC	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.4227dupC	15.37:g.64973572_64973572dupC	ENSP00000316527:p.Pro1408fs		Somatic	OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1080		p.PP1407fs	NM_015042.1	NP_055857.1	WXS	Illumina GAIIx	Phase_I	O15014	ZN609_HUMAN			8	4349_4350	+			1407					Q0D2I2	Frame_Shift_Ins	INS	ENST00000326648.3	37	c.4221_4222insC	CCDS32270.1																																																																																				0.470	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		8	668						8	668	---	---	---	---
ZSCAN2	54993	broad.mit.edu	37	15	85164518	85164519	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:85164518_85164519insA	ENST00000448803.2	+	3	1384_1385	c.1092_1093insA	c.(1093-1095)aaafs	p.K365fs	ZSCAN2_ENST00000358472.3_Frame_Shift_Ins_p.K215fs|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000327179.6_Frame_Shift_Ins_p.K364fs|ZSCAN2_ENST00000546148.1_Frame_Shift_Ins_p.K365fs	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	365					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|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)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCTACGAATGTAAAGAATGCGG	0.495																																						ENST00000448803.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19						c.(1090-1095)tgaagafs		zinc finger and SCAN domain containing 2																																				SO:0001589	frameshift_variant	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85164518_85164519insA	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1095dupA	15.37:g.85164521_85164521dupA	ENSP00000410198:p.Lys365fs		Somatic				ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000546148.1_Frame_Shift_Ins_p.R365fs|ZSCAN2_ENST00000327179.6_Frame_Shift_Ins_p.R364fs|ZSCAN2_ENST00000358472.3_Frame_Shift_Ins_p.R215fs	p.R365fs	NM_181877.3	NP_870992.2	WXS	Illumina GAIIx	Phase_I	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	3	1384_1385	+			365					A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Frame_Shift_Ins	INS	ENST00000448803.2	37	c.1092_1093insA	CCDS10329.2																																																																																				0.495	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		45	392						45	392	---	---	---	---
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)cggfs	p.R138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.R138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function). {ECO:0000269|PubMed:14657428}.		axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GAACATTACTCGGGGGGCCATC	0.51																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	GRCh37	CM035076	IGF1R	M	rs121912426	c.(412-414)gggfs		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)																																			SO:0001589	frameshift_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99251108_99251109insG	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.418dupG	15.37:g.99251114_99251114dupG	ENSP00000268035:p.Arg138fs		Somatic				IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	p.G138fs	NM_000875.3	NP_000866.1	WXS	Illumina GAIIx	Phase_I	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		2	1023_1024	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		138		R -> Q (in IGF1RES; has decreased IGF1R function).			B1B5Y2|Q14CV2|Q9UCC0	Frame_Shift_Ins	INS	ENST00000268035.6	37	c.412_413insG	CCDS10378.1																																																																																				0.510	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		8	411						8	411	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21063027	21063028	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:21063027_21063028insG	ENST00000261383.3	-	29	4200_4201	c.4201_4202insC	c.(4201-4203)cggfs	p.R1401fs	DNAH3_ENST00000415178.1_Frame_Shift_Ins_p.R1401fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1401	AAA 1. {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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GATCACCAGCCGGGGGGAGTTT	0.569																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(4201-4203)gctfs		dynein, axonemal, heavy chain 3																																				SO:0001589	frameshift_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21063027_21063028insG	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4202dupC	16.37:g.21063033_21063033dupG	ENSP00000261383:p.Arg1401fs		Somatic				DNAH3_ENST00000415178.1_Frame_Shift_Ins_p.A1401fs	p.A1401fs	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	29	4200_4201	-			1401			AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Ins	INS	ENST00000261383.3	37	c.4201_4202insC	CCDS10594.1																																																																																				0.569	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		10	449						10	449	---	---	---	---
SEZ6L2	26470	broad.mit.edu	37	16	29891248	29891249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:29891248_29891249insG	ENST00000308713.5	-	9	2036_2037	c.1509_1510insC	c.(1507-1512)cccaatfs	p.N504fs	SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.N434fs|SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.N460fs|SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.N390fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	504	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGATGGCATTGGGGGGCCCAG	0.604																																						ENST00000308713.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1507-1512)ccatgcfs		seizure related 6 homolog (mouse)-like 2																																				SO:0001589	frameshift_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29891248_29891249insG	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1510dupC	16.37:g.29891254_29891254dupG	ENSP00000312550:p.Asn504fs		Somatic				SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.C390fs|SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.C460fs|SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.C434fs	p.C504fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	WXS	Illumina GAIIx	Phase_I	Q6UXD5	SE6L2_HUMAN			9	2036_2037	-			504			Sushi 2.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Frame_Shift_Ins	INS	ENST00000308713.5	37	c.1509_1510insC	CCDS10659.1																																																																																				0.604	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		9	648						9	648	---	---	---	---
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:30100077_30100078insC	ENST00000395224.2	-	5	763_764	c.704_705insG	c.(703-705)ggcfs	p.G235fs	TBX6_ENST00000279386.2_Frame_Shift_Ins_p.G235fs|TBX6_ENST00000553607.1_Frame_Shift_Ins_p.G235fs	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	235					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGAGGCCATGCCCCCCCAGTG	0.629																																						ENST00000553607.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						c.(703-705)gatfs		T-box 6																																				SO:0001589	frameshift_variant	6911				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30100077_30100078insC	AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.705dupG	16.37:g.30100084_30100084dupC	ENSP00000378650:p.Gly235fs		Somatic				TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs	p.D235fs			WXS	Illumina GAIIx	Phase_I	O95947	TBX6_HUMAN			4	1397_1398	-			235					Q8TAS4|Q9HA44	Frame_Shift_Ins	INS	ENST00000395224.2	37	c.704_705insG	CCDS10670.1																																																																																				0.629	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		10	218						10	218	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30733909	30733910	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:30733909_30733910insG	ENST00000262518.4	+	23	4117_4118	c.3732_3733insG	c.(3733-3735)gggfs	p.G1245fs	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1245	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGTGTCAGCAGGGGGGCAGCA	0.614																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(3730-3735)gcggggfs		Snf2-related CREBBP activator protein																																				SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30733909_30733910insG	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3738dupG	16.37:g.30733915_30733915dupG	ENSP00000262518:p.Gly1245fs		Somatic				SRCAP_ENST00000395059.2_Intron|SRCAP_ENST00000344771.4_Intron	p.AG1244fs	NM_006662.2	NP_006653.2	WXS	Illumina GAIIx	Phase_I	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		23	4117_4118	+			1244			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Ins	INS	ENST00000262518.4	37	c.3732_3733insG	CCDS10689.2																																																																																				0.614	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		9	984						9	984	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31422532	31422533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:31422532_31422533insG	ENST00000389202.2	+	13	1541_1542	c.1492_1493insG	c.(1492-1494)aggfs	p.R498fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	498					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCCCTTGCCTAGGGGGGTGAGT	0.629																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1492-1494)gggfs		integrin, alpha D				1,4263		0,1,2131						-8.3	0.0			80	0,8250		0,0,4125	no	frameshift	ITGAD	NM_005353.2		0,1,6256	A1A1,A1R,RR		0.0,0.0235,0.0080				1,12513				SO:0001589	frameshift_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422532_31422533insG	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1497dupG	16.37:g.31422538_31422538dupG	ENSP00000373854:p.Arg498fs		Somatic					p.G498fs	NM_005353.2	NP_005344.2	WXS	Illumina GAIIx	Phase_I	Q13349	ITAD_HUMAN			13	1541_1542	+			498					Q15575|Q15576	Frame_Shift_Ins	INS	ENST00000389202.2	37	c.1492_1493insG	CCDS32438.1																																																																																				0.629	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		7	1072						7	1072	---	---	---	---
RP11-812E19.7	0	broad.mit.edu	37	16	33661285	33661286	+	lincRNA	INS	-	-	C	rs554546933		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:33661285_33661286insC	ENST00000563019.1	-	0	45_46																											GGTTCTGTGCGCCCCCCGCAGC	0.525																																						ENST00000563019.1																			0																																																			0							g.chr16:33661285_33661286insC																													16.37:g.33661291_33661291dupC			Somatic								WXS	Illumina GAIIx	Phase_I					0	45_46	-									RNA	INS	ENST00000563019.1	37																																																																																						0.525	RP11-812E19.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000431819.1			7	68						7	68	---	---	---	---
NKD1	85407	broad.mit.edu	37	16	50667134	50667135	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:50667134_50667135insC	ENST00000268459.3	+	10	1079_1080	c.855_856insC	c.(856-858)cccfs	p.P286fs		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	286					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(853-858)ctccccfs		naked cuticle homolog 1 (Drosophila)																																				SO:0001589	frameshift_variant	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50667134_50667135insC	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.862dupC	16.37:g.50667141_50667141dupC	ENSP00000268459:p.Pro286fs		Somatic					p.LP285fs	NM_033119.4	NP_149110.1	WXS	Illumina GAIIx	Phase_I	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	10	1079_1080	+		all_cancers(37;0.229)	285					B2RC39|Q8WZ08	Frame_Shift_Ins	INS	ENST00000268459.3	37	c.855_856insC	CCDS10743.1																																																																																				0.599	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			7	106						7	106	---	---	---	---
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C	rs543306573	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:56602768_56602769insC	ENST00000219162.3	+	3	193_194	c.113_114insC	c.(112-117)tgccccfs	p.CP38fs		NM_032935.2	NP_116324	P47944	MT4_HUMAN	metallothionein 4	38					cellular metal ion homeostasis (GO:0006875)		metal ion binding (GO:0046872)			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599													CCCcCC|CCCCCC|CCCCCCC|insertion	3	0.000599042	0.0023	0.0	5008	,	,		18016	0.0		0.0	False		,,,				2504	0.0					ENST00000219162.3																			0				ovary(1)|upper_aerodigestive_tract(1)	2						c.(112-114)tccfs		metallothionein 4																																				SO:0001589	frameshift_variant	84560					cytoplasm	copper ion binding|zinc ion binding	g.chr16:56602768_56602769insC	BC113442	CCDS42165.1	16q13	2014-09-04	2007-01-26		ENSG00000102891	ENSG00000102891		"""Metallothioneins"""	18705	protein-coding gene	gene with protein product		606206	"""metallothionein IV"""			8003488	Standard	NM_032935		Approved	MTIV	uc002eje.1	P47944	OTTHUMG00000176863	ENST00000219162.3:c.119dupC	16.37:g.56602774_56602774dupC	ENSP00000219162:p.Cys38fs		Somatic					p.S38fs	NM_032935.2	NP_116324.1	WXS	Illumina GAIIx	Phase_I	P47944	MT4_HUMAN			3	193_194	+			38					Q14DA1	Frame_Shift_Ins	INS	ENST00000219162.3	37	c.113_114insC	CCDS42165.1																																																																																				0.599	MT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434118.1	NM_032935		19	1036						19	1036	---	---	---	---
TLDC1	57707	broad.mit.edu	37	16	84514302	84514303	+	Frame_Shift_Ins	INS	-	-	C	rs549073767		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:84514302_84514303insC	ENST00000343629.6	-	7	1271_1272	c.1089_1090insG	c.(1087-1092)gggcagfs	p.Q364fs	TLDC1_ENST00000535580.1_Frame_Shift_Ins_p.Q337fs	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	364	TLD.					lysosomal membrane (GO:0005765)											TAATTGTGCTGCCCCCCCATAC	0.55																																						ENST00000343629.6																			0											c.(1087-1092)ggagcafs		TBC/LysM-associated domain containing 1																																				SO:0001589	frameshift_variant	57707							g.chr16:84514302_84514303insC	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.1090dupG	16.37:g.84514309_84514309dupC	ENSP00000343635:p.Gln364fs		Somatic				TLDC1_ENST00000535580.1_Frame_Shift_Ins_p.A337fs	p.A364fs	NM_020947.3	NP_065998.3	WXS	Illumina GAIIx	Phase_I					7	1271_1272	-								Q8IZ64|Q9HCG3|Q9NTE8	Frame_Shift_Ins	INS	ENST00000343629.6	37	c.1089_1090insG	CCDS32498.1																																																																																				0.550	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		7	113						7	113	---	---	---	---
KLHDC4	54758	broad.mit.edu	37	16	87795566	87795567	+	Frame_Shift_Ins	INS	-	-	G	rs546816885		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:87795566_87795567insG	ENST00000270583.5	-	2	237_238	c.179_180insC	c.(178-180)ccafs	p.P60fs	KLHDC4_ENST00000347925.5_Frame_Shift_Ins_p.P60fs|KLHDC4_ENST00000353170.5_Intron	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	60										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TTGGTGAGGGTGGGGGGCACGG	0.465																																						ENST00000270583.5																			0				breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(178-180)cccfs		kelch domain containing 4																																				SO:0001589	frameshift_variant	54758							g.chr16:87795566_87795567insG	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.180dupC	16.37:g.87795572_87795572dupG	ENSP00000270583:p.Pro60fs		Somatic				KLHDC4_ENST00000353170.5_Intron|KLHDC4_ENST00000347925.5_Frame_Shift_Ins_p.P60fs	p.P60fs	NM_017566.3	NP_060036.2	WXS	Illumina GAIIx	Phase_I	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	2	237_238	-			60					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Frame_Shift_Ins	INS	ENST00000270583.5	37	c.179_180insC	CCDS10963.1																																																																																				0.465	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		7	670						7	670	---	---	---	---
ZMYND15	84225	broad.mit.edu	37	17	4647723	4647724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:4647723_4647724insC	ENST00000433935.1	+	10	1701_1702	c.1644_1645insC	c.(1645-1647)cccfs	p.P549fs	ZMYND15_ENST00000269289.6_Frame_Shift_Ins_p.P510fs|ZMYND15_ENST00000573751.2_Frame_Shift_Ins_p.P549fs|ZMYND15_ENST00000592813.1_Frame_Shift_Ins_p.P510fs	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	549					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GTGATGGCCTGCCCCCCGAAAG	0.594																																						ENST00000433935.1																			0				endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						c.(1642-1647)ctccccfs		zinc finger, MYND-type containing 15																																				SO:0001589	frameshift_variant	84225						zinc ion binding	g.chr17:4647723_4647724insC	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.1650dupC	17.37:g.4647729_4647729dupC	ENSP00000391742:p.Pro549fs		Somatic				ZMYND15_ENST00000592813.1_Frame_Shift_Ins_p.LP509fs|ZMYND15_ENST00000573751.2_Frame_Shift_Ins_p.LP548fs|ZMYND15_ENST00000269289.6_Frame_Shift_Ins_p.LP509fs	p.LP548fs	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	WXS	Illumina GAIIx	Phase_I	Q9H091	ZMY15_HUMAN			10	1701_1702	+			509					B4DXY5|I3L296	Frame_Shift_Ins	INS	ENST00000433935.1	37	c.1644_1645insC	CCDS45584.1																																																																																				0.594	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		9	271						9	271	---	---	---	---
CAMTA2	23125	broad.mit.edu	37	17	4884523	4884524	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:4884523_4884524insC	ENST00000348066.3	-	8	819_820	c.696_697insG	c.(694-699)gggcttfs	p.L233fs	CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.L256fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.L233fs|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.L235fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.L238fs|CAMTA2_ENST00000361571.5_Frame_Shift_Ins_p.L232fs	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	233					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AACTTACCAAGCCCCCCACTGC	0.55											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(691-696)ggttggfs		calmodulin binding transcription activator 2																																				SO:0001589	frameshift_variant	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4884523_4884524insC	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.697dupG	17.37:g.4884529_4884529dupC	ENSP00000321813:p.Leu233fs		Somatic	OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.W235fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.W238fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.W256fs	p.W232fs	NM_001171168.1	NP_001164639.1	WXS	Illumina GAIIx	Phase_I	O94983	CMTA2_HUMAN			7	1104_1105	-			233					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Frame_Shift_Ins	INS	ENST00000348066.3	37	c.693_694insG	CCDS11063.1																																																																																				0.550	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		12	714						12	714	---	---	---	---
WSCD1	23302	broad.mit.edu	37	17	6012978	6012979	+	Frame_Shift_Ins	INS	-	-	C	rs41314099	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:6012978_6012979insC	ENST00000574946.1	+	6	1291_1292	c.901_902insC	c.(901-903)accfs	p.T301fs	WSCD1_ENST00000317744.5_Frame_Shift_Ins_p.T301fs|WSCD1_ENST00000573634.1_Frame_Shift_Ins_p.T185fs|WSCD1_ENST00000574232.1_Frame_Shift_Ins_p.T301fs|WSCD1_ENST00000539421.1_Frame_Shift_Ins_p.T301fs			Q658N2	WSCD1_HUMAN	WSC domain containing 1	301	WSC 2. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TGCTTACCCTACCCCCCGGTTC	0.564																																						ENST00000574946.1																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(901-903)cccfs		WSC domain containing 1																																				SO:0001589	frameshift_variant	23302					integral to membrane	sulfotransferase activity	g.chr17:6012978_6012979insC		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.907dupC	17.37:g.6012984_6012984dupC	ENSP00000460825:p.Thr301fs		Somatic				WSCD1_ENST00000317744.5_Frame_Shift_Ins_p.P301fs|WSCD1_ENST00000574232.1_Frame_Shift_Ins_p.P301fs|WSCD1_ENST00000573634.1_Frame_Shift_Ins_p.P185fs|WSCD1_ENST00000539421.1_Frame_Shift_Ins_p.P301fs	p.P301fs			WXS	Illumina GAIIx	Phase_I	Q658N2	WSCD1_HUMAN			6	1291_1292	+			301			WSC 2.		A8K0N8|D3DTM3|O60276|Q96G45	Frame_Shift_Ins	INS	ENST00000574946.1	37	c.901_902insC	CCDS32538.1																																																																																				0.564	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		12	1120						12	1120	---	---	---	---
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)gccfs	p.A298fs	AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	298	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.		A -> T.		aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATACCTGGCTGCCCCCCTCGTT	0.554																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(892-894)cccfs		arachidonate 12-lipoxygenase																																				SO:0001589	frameshift_variant	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6903739_6903740insC	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.898dupC	17.37:g.6903745_6903745dupC	ENSP00000251535:p.Ala298fs		Somatic				AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA	p.P298fs	NM_000697.2	NP_000688.2	WXS	Illumina GAIIx	Phase_I	P18054	LOX12_HUMAN			7	945_946	+			298		A -> T.	Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Frame_Shift_Ins	INS	ENST00000251535.6	37	c.892_893insC	CCDS11084.1																																																																																				0.554	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			17	858						17	858	---	---	---	---
EFNB3	1949	broad.mit.edu	37	17	7612855	7612856	+	Frame_Shift_Ins	INS	-	-	C	rs532773147	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:7612855_7612856insC	ENST00000226091.2	+	5	1381_1382	c.984_985insC	c.(985-987)cccfs	p.P329fs		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	329					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCAGGATGGGCCCCCCCAGAG	0.574																																						ENST00000226091.2																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(982-987)ggccccfs		ephrin-B3																																				SO:0001589	frameshift_variant	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7612855_7612856insC	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.991dupC	17.37:g.7612862_7612862dupC	ENSP00000226091:p.Pro329fs		Somatic					p.GP328fs	NM_001406.3	NP_001397.1	WXS	Illumina GAIIx	Phase_I	Q15768	EFNB3_HUMAN			5	1381_1382	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	328					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Frame_Shift_Ins	INS	ENST00000226091.2	37	c.984_985insC	CCDS11120.1																																																																																				0.574	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		7	164						7	164	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7798764	7798765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:7798764_7798765insC	ENST00000330494.7	+	10	1761_1762	c.1611_1612insC	c.(1612-1614)cccfs	p.P538fs	CHD3_ENST00000358181.4_Frame_Shift_Ins_p.P538fs|CHD3_ENST00000380358.4_Frame_Shift_Ins_p.P597fs	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	538	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAGATGTCCCACCCCCCCGTCC	0.574																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(1786-1791)ccccccfs		chromodomain helicase DNA binding protein 3																																				SO:0001589	frameshift_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7798764_7798765insC	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1618dupC	17.37:g.7798771_7798771dupC	ENSP00000332628:p.Pro538fs		Somatic				CHD3_ENST00000358181.4_Frame_Shift_Ins_p.PP537fs|CHD3_ENST00000330494.7_Frame_Shift_Ins_p.PP537fs	p.PP596fs	NM_001005271.2	NP_001005271.2	WXS	Illumina GAIIx	Phase_I	Q12873	CHD3_HUMAN			10	1789_1790	+		Prostate(122;0.202)	537					D3DTQ9|E9PG89|Q9Y4I0	Frame_Shift_Ins	INS	ENST00000330494.7	37	c.1788_1789insC	CCDS32554.1																																																																																				0.574	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		26	483						26	483	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G	rs376316249		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)ccafs	p.P919fs	SSH2_ENST00000540801.1_Frame_Shift_Ins_p.P946fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.48																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2755-2757)cgafs		slingshot protein phosphatase 2																																				SO:0001589	frameshift_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27959374_27959375insG	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2757dupC	17.37:g.27959381_27959381dupG	ENSP00000269033:p.Pro919fs		Somatic				SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs|RP11-68I3.2_ENST00000581474.1_RNA	p.R919fs	NM_033389.2	NP_203747.2	WXS	Illumina GAIIx	Phase_I	Q76I76	SSH2_HUMAN			15	2907_2908	-			919					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Ins	INS	ENST00000269033.3	37	c.2756_2757insC	CCDS11253.1																																																																																				0.480	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		32	601						32	601	---	---	---	---
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:29758897_29758898insG	ENST00000325874.8	+	2	455_456	c.226_227insG	c.(226-228)cggfs	p.R76fs		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	76	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGACTTTTGCCGGGGGGTGTTC	0.579																																						ENST00000325874.8																			1	Unknown(1)	p.?(1)	autonomic_ganglia(1)	endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(226-228)gggfs		RAB11 family interacting protein 4 (class II)																																				SO:0001589	frameshift_variant	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29758897_29758898insG	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.232dupG	17.37:g.29758903_29758903dupG	ENSP00000312837:p.Arg76fs		Somatic					p.G76fs	NM_032932.3	NP_116321.2	WXS	Illumina GAIIx	Phase_I	Q86YS3	RFIP4_HUMAN			2	455_456	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	76			EF-hand.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Frame_Shift_Ins	INS	ENST00000325874.8	37	c.226_227insG	CCDS11267.1																																																																																				0.579	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		8	277						8	277	---	---	---	---
ASIC2	40	broad.mit.edu	37	17	31439004	31439005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:31439004_31439005insC	ENST00000359872.6	-	2	1397_1398	c.636_637insG	c.(634-639)gggacafs	p.T213fs	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000225823.2_Frame_Shift_Ins_p.T264fs|RP11-40A13.1_ENST00000584688.1_RNA	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	213					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	CCGTTGCCTGTCCCCCCCTTGA	0.55																																						ENST00000225823.2																			0											c.(787-792)ggcaggfs		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)																																			SO:0001589	frameshift_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31439004_31439005insC	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.637dupG	17.37:g.31439011_31439011dupC	ENSP00000352934:p.Thr213fs		Somatic				ASIC2_ENST00000448983.1_5'UTR|RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000359872.6_Frame_Shift_Ins_p.R213fs	p.R264fs	NM_183377.1	NP_899233.1	WXS	Illumina GAIIx	Phase_I	Q16515	ACCN1_HUMAN			2	1661_1662	-			213					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Frame_Shift_Ins	INS	ENST00000359872.6	37	c.789_790insG	CCDS42296.1																																																																																				0.550	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		7	276						7	276	---	---	---	---
ACACA	31	broad.mit.edu	37	17	35487100	35487101	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:35487100_35487101insC	ENST00000394406.2	-	46	5802_5803	c.5612_5613insG	c.(5611-5613)ggcfs	p.G1871fs	ACACA_ENST00000335166.5_Frame_Shift_Ins_p.G1793fs|ACACA_ENST00000353139.5_Frame_Shift_Ins_p.G1908fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.G1813fs|ACACA_ENST00000361253.5_5'UTR	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1871	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TAATCTGGATGCCCCCCAGCTG	0.495																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(5722-5724)gatfs		acetyl-CoA carboxylase alpha	Biotin(DB00121)																																			SO:0001589	frameshift_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35487100_35487101insC	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5613dupG	17.37:g.35487106_35487106dupC	ENSP00000377928:p.Gly1871fs		Somatic				ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.D1871fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.D1813fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.D1793fs	p.D1908fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	WXS	Illumina GAIIx	Phase_I	Q13085	ACACA_HUMAN			46	6204_6205	-		Breast(25;0.00157)|Ovarian(249;0.15)	1871			Carboxyltransferase.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Frame_Shift_Ins	INS	ENST00000394406.2	37	c.5723_5724insG	CCDS11317.1																																																																																				0.495	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		7	652						7	652	---	---	---	---
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:50008356_50008357insC	ENST00000285273.4	-	4	1383_1384	c.272_273insG	c.(271-273)ggcfs	p.G91fs	CA10_ENST00000340813.6_Frame_Shift_Ins_p.G97fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.G16fs|CA10_ENST00000451037.2_Frame_Shift_Ins_p.G91fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.G91fs	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development (GO:0007420)			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TTACCTTCCTGCCCCCCGTGTT	0.49																																						ENST00000451037.2																			1	Substitution - Missense(1)	p.G91V(1)	lung(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(271-273)gagfs		carbonic anhydrase X																																				SO:0001589	frameshift_variant	56934				brain development			g.chr17:50008356_50008357insC	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.273dupG	17.37:g.50008362_50008362dupC	ENSP00000285273:p.Gly91fs		Somatic				CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs	p.E91fs	NM_020178.4	NP_064563.1	WXS	Illumina GAIIx	Phase_I	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		3	1212_1213	-			91					B2R7J0|B4DGL6	Frame_Shift_Ins	INS	ENST00000285273.4	37	c.272_273insG	CCDS32684.1																																																																																				0.490	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		16	1227						16	1227	---	---	---	---
MKS1	54903	broad.mit.edu	37	17	56290389	56290390	+	Frame_Shift_Ins	INS	-	-	G	rs201771125	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:56290389_56290390insG	ENST00000393119.2	-	8	885_886	c.811_812insC	c.(811-813)cacfs	p.H271fs	MKS1_ENST00000537529.2_Frame_Shift_Ins_p.H261fs|MKS1_ENST00000546108.1_Frame_Shift_Ins_p.H68fs|MKS1_ENST00000313863.6_Frame_Shift_Ins_p.H271fs|MKS1_ENST00000337050.7_Frame_Shift_Ins_p.H271fs	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	271					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGGCTGTGCGTGGGGGGAAACA	0.525																																						ENST00000393119.2																			0				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(811-813)cgcfs		Meckel syndrome, type 1																																				SO:0001589	frameshift_variant	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56290389_56290390insG	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.812dupC	17.37:g.56290395_56290395dupG	ENSP00000376827:p.His271fs		Somatic				MKS1_ENST00000537529.2_Frame_Shift_Ins_p.R261fs|MKS1_ENST00000546108.1_Frame_Shift_Ins_p.R68fs|MKS1_ENST00000313863.6_Frame_Shift_Ins_p.R271fs|MKS1_ENST00000337050.7_Frame_Shift_Ins_p.R271fs	p.R271fs	NM_017777.3	NP_060247.2	WXS	Illumina GAIIx	Phase_I	Q9NXB0	MKS1_HUMAN			8	885_886	-			271					B7WNX4|F5H885|Q284T0|Q96G13	Frame_Shift_Ins	INS	ENST00000393119.2	37	c.811_812insC	CCDS11603.2																																																																																				0.525	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		7	355						7	355	---	---	---	---
RNF43	54894	broad.mit.edu	37	17	56435160	56435161	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:56435160_56435161insC	ENST00000584437.1	-	8	3931_3932	c.1976_1977insG	c.(1975-1977)ggtfs	p.G659fs	RNF43_ENST00000407977.2_Frame_Shift_Ins_p.G659fs|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.G659fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.G532fs|RNF43_ENST00000500597.2_Frame_Shift_Ins_p.G618fs|RNF43_ENST00000583753.1_Frame_Shift_Ins_p.G618fs|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.G532fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	659	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCCT	0.599																																						ENST00000584437.1																			1	Deletion - Frameshift(1)	p.G659fs*41(1)	large_intestine(1)	NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(1975-1977)gccfs		ring finger protein 43																																				SO:0001589	frameshift_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435160_56435161insC		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1977dupG	17.37:g.56435167_56435167dupC	ENSP00000463069:p.Gly659fs		Somatic				RNF43_ENST00000583753.1_Frame_Shift_Ins_p.A618fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.A532fs|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.A659fs|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.A532fs|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.A659fs|RNF43_ENST00000500597.2_Frame_Shift_Ins_p.A618fs	p.A659fs			WXS	Illumina GAIIx	Phase_I	Q68DV7	RNF43_HUMAN			8	3931_3932	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		659			Pro-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Ins	INS	ENST00000584437.1	37	c.1976_1977insG	CCDS11607.1																																																																																				0.599	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		9	206						9	206	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G	rs200065915	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)caafs	p.Q1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					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)					ATCTCTACTTTGGGGGGAAATT	0.376																																						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.(3709-3711)aagfs		ATP-binding cassette, sub-family A (ABC1), member 6																																				SO:0001589	frameshift_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67083603_67083604insG	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.3710dupC	17.37:g.67083609_67083609dupG	ENSP00000284425:p.Gln1237fs		Somatic				ABCA6_ENST00000446604.2_5'UTR	p.K1237fs	NM_080284.2	NP_525023.2	WXS	Illumina GAIIx	Phase_I	Q8N139	ABCA6_HUMAN			29	3883_3884	-	Breast(10;5.65e-12)		1237					Q6NSH9|Q8N856|Q8WWZ6	Frame_Shift_Ins	INS	ENST00000284425.2	37	c.3709_3710insC	CCDS11683.1																																																																																				0.376	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		24	922						24	922	---	---	---	---
GRB2	2885	broad.mit.edu	37	17	73389642	73389643	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:73389642_73389643insC	ENST00000392562.1	-	2	849_850	c.67_68insG	c.(67-69)gacfs	p.D23fs	GRB2_ENST00000316615.5_Frame_Shift_Ins_p.D23fs|GRB2_ENST00000392564.1_Frame_Shift_Ins_p.D23fs|GRB2_ENST00000316804.5_Frame_Shift_Ins_p.D23fs|RP11-16C1.1_ENST00000578226.1_RNA|GRB2_ENST00000392563.1_Frame_Shift_Ins_p.D23fs|GRB2_ENST00000578961.1_Frame_Shift_Ins_p.D23fs			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	23	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to ionizing radiation (GO:0071479)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of MAPK cascade (GO:0043408)|signal transduction in response to DNA damage (GO:0042770)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Grb2-EGFR complex (GO:0070436)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|identical protein binding (GO:0042802)|insulin receptor substrate binding (GO:0043560)|neurotrophin TRKA receptor binding (GO:0005168)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	CTTGAGGATGTCCCCCCTTTTG	0.53																																						ENST00000392562.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17						c.(67-69)catfs		growth factor receptor-bound protein 2	Pegademase bovine(DB00061)																																			SO:0001589	frameshift_variant	2885				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity	g.chr17:73389642_73389643insC		CCDS11721.1, CCDS11722.1	17q24-q25	2013-02-14			ENSG00000177885	ENSG00000177885		"""SH2 domain containing"""	4566	protein-coding gene	gene with protein product		108355					Standard	NM_002086		Approved	NCKAP2	uc002jnx.4	P62993	OTTHUMG00000134332	ENST00000392562.1:c.68dupG	17.37:g.73389648_73389648dupC	ENSP00000376345:p.Asp23fs		Somatic				GRB2_ENST00000392564.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000392563.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000578961.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000316804.5_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000316615.5_Frame_Shift_Ins_p.H23fs	p.H23fs			WXS	Illumina GAIIx	Phase_I	P62993	GRB2_HUMAN	all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		2	849_850	-	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		23			SH3 1.		P29354|Q14450|Q63057|Q63059	Frame_Shift_Ins	INS	ENST00000392562.1	37	c.67_68insG	CCDS11721.1																																																																																				0.530	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1			11	840						11	840	---	---	---	---
ZNF271	10778	broad.mit.edu	37	18	32887167	32887171	+	RNA	DEL	TATGC	TATGC	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr18:32887167_32887171delTATGC	ENST00000399070.3	+	0	1561_1565					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						AGAGAAACCATATGCATGTAATCAG	0.385																																						ENST00000399070.3																			0				large_intestine(3)|lung(9)	12																																														10778							g.chr18:32887167_32887171delTATGC	X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32887167_32887171delTATGC			Somatic						NR_024565.1|NR_024566.1		WXS	Illumina GAIIx	Phase_I					0	1561_1565	+								B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	DEL	ENST00000399070.3	37																																																																																						0.385	ZNF271-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255767.2	NR_024565		15	174						15	174	---	---	---	---
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:6697480_6697481insG	ENST00000245907.6	-	21	2762_2763	c.2670_2671insC	c.(2668-2673)cccaagfs	p.K891fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	891					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)	AACGAGGACTTGGGGGGGATGG	0.574																																						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.(2668-2673)ccagtcfs		complement component 3																																				SO:0001589	frameshift_variant	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.chr19:6697480_6697481insG	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.2671dupC	19.37:g.6697487_6697487dupG	ENSP00000245907:p.Lys891fs		Somatic					p.V891fs	NM_000064.2	NP_000055.2	WXS	Illumina GAIIx	Phase_I	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	21	2762_2763	-			891					A7E236	Frame_Shift_Ins	INS	ENST00000245907.6	37	c.2670_2671insC	CCDS32883.1																																																																																				0.574	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		10	351						10	351	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G	rs369470867		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)cccaaafs	p.K130fs	DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.K130fs|DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.K130fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	130	Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GAAAGGGGTTTGGGGGGGCTGT	0.495																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(385-390)ccaaccfs		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)																																			SO:0001589	frameshift_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10291083_10291084insG	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.388dupC	19.37:g.10291090_10291090dupG	ENSP00000345739:p.Lys130fs		Somatic				DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs	p.T130fs			WXS	Illumina GAIIx	Phase_I	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		4	622_623	-			130			Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Frame_Shift_Ins	INS	ENST00000340748.4	37	c.387_388insC	CCDS12228.1																																																																																				0.495	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		12	231						12	231	---	---	---	---
EPOR	2057	broad.mit.edu	37	19	11488680	11488681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:11488680_11488681insG	ENST00000222139.6	-	8	1610_1611	c.1506_1507insC	c.(1504-1509)cccagcfs	p.S503fs	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	503					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	GCCACATAGCTGGGGGGCAGAG	0.569											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222139.6																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(1504-1509)ccgctafs		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)																																			SO:0001589	frameshift_variant	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11488680_11488681insG	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.1507dupC	19.37:g.11488686_11488686dupG	ENSP00000222139:p.Ser503fs		Somatic	OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	672	EPOR_ENST00000592375.2_3'UTR	p.L503fs	NM_000121.3	NP_000112.1	WXS	Illumina GAIIx	Phase_I	P19235	EPOR_HUMAN			8	1610_1611	-			503					B2RCG4|Q15443|Q2M205	Frame_Shift_Ins	INS	ENST00000222139.6	37	c.1506_1507insC	CCDS12260.1																																																																																				0.569	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			14	1019						14	1019	---	---	---	---
TNPO2	30000	broad.mit.edu	37	19	12829916	12829917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:12829916_12829917insG	ENST00000592287.1	-	4	359_360	c.251_252insC	c.(250-252)cctfs	p.P84fs	TNPO2_ENST00000425528.1_Frame_Shift_Ins_p.P84fs|TNPO2_ENST00000356861.5_Frame_Shift_Ins_p.P84fs|TNPO2_ENST00000441499.1_Frame_Shift_Ins_p.P84fs|TNPO2_ENST00000450764.2_Frame_Shift_Ins_p.P84fs|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000588216.1_Frame_Shift_Ins_p.P84fs	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	84	Importin N-terminal.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGTCTGCCACAGGGGGTGGGAA	0.579																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(250-252)cgtfs		transportin 2																																				SO:0001589	frameshift_variant	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12829916_12829917insG	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.252dupC	19.37:g.12829921_12829921dupG	ENSP00000468434:p.Pro84fs		Somatic				TNPO2_ENST00000588216.1_Frame_Shift_Ins_p.R84fs|TNPO2_ENST00000592287.1_Frame_Shift_Ins_p.R84fs|TNPO2_ENST00000450764.2_Frame_Shift_Ins_p.R84fs|TNPO2_ENST00000356861.5_Frame_Shift_Ins_p.R84fs|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000441499.1_Frame_Shift_Ins_p.R84fs	p.R84fs			WXS	Illumina GAIIx	Phase_I	O14787	TNPO2_HUMAN			5	608_609	-			84			Importin N-terminal.		O14655|Q6IN77	Frame_Shift_Ins	INS	ENST00000592287.1	37	c.251_252insC	CCDS45991.1																																																																																				0.579	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		7	558						7	558	---	---	---	---
CIB3	117286	broad.mit.edu	37	19	16275654	16275655	+	Frame_Shift_Ins	INS	-	-	T	rs6512087	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:16275654_16275655insT	ENST00000269878.4	-	5	465_466	c.416_417insA	c.(415-417)gggfs	p.G139fs	CIB3_ENST00000379859.3_Frame_Shift_Ins_p.G90fs|CIB3_ENST00000541493.1_5'UTR	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	139			G -> E (in dbSNP:rs6512087). {ECO:0000269|PubMed:15489334}.				calcium ion binding (GO:0005509)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CGGCACTCAGCCCCCCCCGCGT	0.569																																						ENST00000269878.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(415-417)gctfs		calcium and integrin binding family member 3																																				SO:0001589	frameshift_variant	117286						calcium ion binding	g.chr19:16275654_16275655insT	AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"""EF-hand domain containing"""	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.416_417insA	19.37:g.16275654_16275655insT	ENSP00000269878:p.Gly139fs		Somatic				CIB3_ENST00000379859.3_Frame_Shift_Ins_p.A90fs|CIB3_ENST00000541493.1_5'UTR	p.A139fs	NM_054113.2	NP_473454.1	WXS	Illumina GAIIx	Phase_I	Q96Q77	CIB3_HUMAN			5	465_466	-			139		G -> E (in dbSNP:rs6512087).			E7EUX1|Q2M1W0|Q6ISP1	Frame_Shift_Ins	INS	ENST00000269878.4	37	c.416_417insA	CCDS12340.1																																																																																				0.569	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460351.1	NM_054113		16	297						16	297	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)gggcttfs	p.L520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.5																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1555-1560)ggttgafs		teashirt zinc finger homeobox 3																																				SO:0001589	frameshift_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769141_31769142insC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1558dupG	19.37:g.31769148_31769148dupC	ENSP00000240587:p.Leu520fs		Somatic					p.*520fs	NM_020856.2	NP_065907.2	WXS	Illumina GAIIx	Phase_I	Q63HK5	TSH3_HUMAN			2	1884_1885	-	Esophageal squamous(110;0.226)		520					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1557_1558insG	CCDS12421.2																																																																																				0.500	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		8	501						8	501	---	---	---	---
POU2F2	5452	broad.mit.edu	37	19	42621520	42621521	+	Splice_Site	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:42621520_42621521insG	ENST00000526816.2	-	5	202		c.e5-2		POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000560398.1_Frame_Shift_Ins_p.Q84fs|POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000389341.5_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site			P09086	PO2F2_HUMAN	POU class 2 homeobox 2						cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	AGCCTTGATCTGGGGGGGAGAG	0.634																																						ENST00000560398.1																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(250-252)gatfs		POU class 2 homeobox 2																																				SO:0001630	splice_region_variant	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42621520_42621521insG		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.187-2->C	19.37:g.42621527_42621527dupG			Somatic				POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000526816.2_Splice_Site|POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000389341.5_Splice_Site	p.D84fs			WXS	Illumina GAIIx	Phase_I	P09086	PO2F2_HUMAN			5	257_258	-		Prostate(69;0.059)	62					Q16648|Q7M4M8|Q9BRS4	Frame_Shift_Ins	INS	ENST00000526816.2	37	c.250_251insC	CCDS56095.1																																																																																				0.634	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3		Intron	16	282						16	282	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000471557.1_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)																																						5676				female pregnancy	extracellular region		g.chr19:43439519_43439520insC			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439525_43439525dupC			Somatic				PSG7_ENST00000406070.2_RNA				WXS	Illumina GAIIx	Phase_I	Q13046	PSG7_HUMAN			0	520	-		Prostate(69;0.00682)						Q15232	RNA	INS	ENST00000406070.2	37																																																																																						0.515	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		16	1067						16	1067	---	---	---	---
DHX34	9704	broad.mit.edu	37	19	47878930	47878931	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:47878930_47878931insC	ENST00000328771.4	+	10	2621_2622	c.2272_2273insC	c.(2272-2274)gccfs	p.A758fs		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	758					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GGCTGGCCCAGCCCCCCCAGGG	0.718																																						ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2272-2274)cccfs		DEAH (Asp-Glu-Ala-His) box polypeptide 34																																				SO:0001589	frameshift_variant	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47878930_47878931insC	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2279dupC	19.37:g.47878937_47878937dupC	ENSP00000331907:p.Ala758fs		Somatic					p.P758fs	NM_014681.5	NP_055496.2	WXS	Illumina GAIIx	Phase_I	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	10	2621_2622	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	758					B4DMY8	Frame_Shift_Ins	INS	ENST00000328771.4	37	c.2272_2273insC	CCDS12700.1																																																																																				0.718	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		3	6						3	6	---	---	---	---
SLC8A2	6543	broad.mit.edu	37	19	47935586	47935587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:47935586_47935587insG	ENST00000236877.6	-	9	2621_2622	c.2226_2227insC	c.(2224-2229)cccaccfs	p.T743fs	SLC8A2_ENST00000601757.1_5'Flank|SLC8A2_ENST00000542837.1_Frame_Shift_Ins_p.T499fs|SLC8A2_ENST00000539381.1_Frame_Shift_Ins_p.T206fs	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	743					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)		CAGTACTCGGTGGGGGGCACAC	0.649																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(2224-2229)ccccgafs		solute carrier family 8 (sodium/calcium exchanger), member 2																																				SO:0001589	frameshift_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47935586_47935587insG	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.2227dupC	19.37:g.47935592_47935592dupG	ENSP00000236877:p.Thr743fs		Somatic				SLC8A2_ENST00000539381.1_Frame_Shift_Ins_p.R206fs|SLC8A2_ENST00000542837.1_Frame_Shift_Ins_p.R499fs	p.R743fs	NM_015063.2	NP_055878.1	WXS	Illumina GAIIx	Phase_I	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	2621_2622	-		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)	743					B4DYQ9	Frame_Shift_Ins	INS	ENST00000236877.6	37	c.2226_2227insC	CCDS33065.1																																																																																				0.649	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			8	315						8	315	---	---	---	---
SULT2A1	6822	broad.mit.edu	37	19	48385414	48385415	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:48385414_48385415insA	ENST00000222002.3	-	3	537_538	c.398_399insT	c.(397-399)ttcfs	p.F133fs		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	133					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	TGTTTTTCCAGAAAAAATAACC	0.347																																						ENST00000222002.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20						c.(397-399)ttgfs		sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1																																				SO:0001589	frameshift_variant	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48385414_48385415insA	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.399dupT	19.37:g.48385420_48385420dupA	ENSP00000222002:p.Phe133fs		Somatic					p.L133fs	NM_003167.3	NP_003158.2	WXS	Illumina GAIIx	Phase_I	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	3	537_538	-		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)	133						Frame_Shift_Ins	INS	ENST00000222002.3	37	c.398_399insT	CCDS12707.1																																																																																				0.347	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		31	146						31	146	---	---	---	---
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:48737669_48737670insC	ENST00000359009.4	-	3	378_379	c.66_67insG	c.(64-69)gggacafs	p.T23fs	CARD8_ENST00000521613.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.D114fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000391898.3_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.D64fs			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	23					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436																																						ENST00000391898.3																			0				endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15						c.(340-342)catfs		caspase recruitment domain family, member 8																																				SO:0001589	frameshift_variant	22900				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity	g.chr19:48737669_48737670insC	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.67dupG	19.37:g.48737676_48737676dupC	ENSP00000351901:p.Thr23fs		Somatic				CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs	p.H114fs	NM_001184900.1	NP_001171829.1	WXS	Illumina GAIIx	Phase_I	Q9Y2G2	CARD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)	3	382_383	-		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)	0					B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Frame_Shift_Ins	INS	ENST00000359009.4	37	c.340_341insG																																																																																					0.436	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		11	255						11	255	---	---	---	---
SLC17A7	57030	broad.mit.edu	37	19	49937127	49937128	+	Splice_Site	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:49937127_49937128insG	ENST00000221485.3	-	7	896		c.e7-2		SLC17A7_ENST00000600601.1_Splice_Site|SLC17A7_ENST00000543531.1_Splice_Site	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7						glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CGAAGCTGCCTGGGGGGGTCAG	0.678																																						ENST00000221485.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26						c.e7-2		solute carrier family 17 (vesicular glutamate transporter), member 7				5,4257		0,5,2126						4.3	1.0			30	3,8251		0,3,4124	no	splice-3	SLC17A7	NM_020309.3		0,8,6250	A1A1,A1R,RR		0.0363,0.1173,0.0639				8,12508				SO:0001630	splice_region_variant	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49937127_49937128insG	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.725-2->C	19.37:g.49937134_49937134dupG			Somatic				SLC17A7_ENST00000600601.1_Splice_Site|SLC17A7_ENST00000543531.1_Splice_Site		NM_020309.3	NP_064705.1	WXS	Illumina GAIIx	Phase_I	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	7	896	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)						B4DFR9|B4DG46|Q6PCD0	Splice_Site	INS	ENST00000221485.3	37		CCDS12764.1																																																																																				0.678	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2		Intron	7	134						7	134	---	---	---	---
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)gggactfs	p.T15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	GTCTCACCAGTCCCCCCCAGGG	0.653																																						ENST00000301420.2																			0				breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13						c.(40-45)ggctggfs		kallikrein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51326962_51326963insC	L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.43dupG	19.37:g.51326969_51326969dupC	ENSP00000301420:p.Thr15fs		Somatic				KLK1_ENST00000448701.2_5'UTR	p.W15fs	NM_002257.2	NP_002248.1	WXS	Illumina GAIIx	Phase_I	P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	1	77_78	-		all_neural(266;0.0199)	15					Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Frame_Shift_Ins	INS	ENST00000301420.2	37	c.42_43insG	CCDS12804.1																																																																																				0.653	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		17	442						17	442	---	---	---	---
ZNF649	65251	broad.mit.edu	37	19	52394013	52394014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:52394013_52394014insC	ENST00000354957.3	-	5	1659_1660	c.1375_1376insG	c.(1375-1377)gatfs	p.D459fs	ZNF577_ENST00000451628.2_5'Flank|ZNF577_ENST00000412216.1_5'Flank|ZNF577_ENST00000301399.5_5'Flank|ZNF577_ENST00000485702.1_5'Flank|ZNF649_ENST00000600738.1_Frame_Shift_Ins_p.D431fs|ZNF577_ENST00000420592.1_5'Flank|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTTCACTGAATCCCCCCGTTTC	0.45																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(1375-1377)ttcfs		zinc finger protein 649																																				SO:0001589	frameshift_variant	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394013_52394014insC	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1376dupG	19.37:g.52394019_52394019dupC	ENSP00000347043:p.Asp459fs		Somatic				CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Frame_Shift_Ins_p.F431fs	p.F459fs	NM_023074.3	NP_075562.2	WXS	Illumina GAIIx	Phase_I	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1659_1660	-		all_neural(266;0.0602)	459					A8MYJ5|B2RDC4|Q9H9N2	Frame_Shift_Ins	INS	ENST00000354957.3	37	c.1375_1376insG	CCDS12843.1																																																																																				0.450	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		11	1142						11	1142	---	---	---	---
ZNF347	84671	broad.mit.edu	37	19	53645671	53645671	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:53645671delT	ENST00000334197.7	-	5	478	c.410delA	c.(409-411)aatfs	p.N137fs	ZNF347_ENST00000601469.2_Frame_Shift_Del_p.N138fs|ZNF347_ENST00000452676.2_Frame_Shift_Del_p.N138fs|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GCCATGTGTATTTTTCTGGAC	0.413																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(412-414)atfs		zinc finger protein 347							144.0	125.0	132.0					19																	53645671		2203	4300	6503	SO:0001589	frameshift_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53645671delT	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.410delA	19.37:g.53645671delT	ENSP00000334146:p.Asn137fs		Somatic				ZNF347_ENST00000334197.7_Frame_Shift_Del_p.N137fs|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Frame_Shift_Del_p.N138fs	p.N138fs	NM_001172674.1	NP_001166145.1	WXS	Illumina GAIIx	Phase_I	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	839	-			137					B3KU77|B9EG59|G5E9N4|Q8TCN1	Frame_Shift_Del	DEL	ENST00000334197.7	37	c.413delA	CCDS33097.1																																																																																				0.413	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		116	946						116	946	---	---	---	---
CNOT3	4849	broad.mit.edu	37	19	54656634	54656635	+	Frame_Shift_Ins	INS	-	-	C	rs202216847		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:54656634_54656635insC	ENST00000406403.1	+	15	3538_3539	c.1935_1936insC	c.(1936-1938)cccfs	p.P646fs	CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.P646fs|CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.P465fs			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	646	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTGTCCGACGCCCCCCTACCA	0.579																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(1933-1938)acccccfs		CCR4-NOT transcription complex, subunit 3																																				SO:0001589	frameshift_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54656634_54656635insC	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1941dupC	19.37:g.54656640_54656640dupC	ENSP00000383954:p.Pro646fs		Somatic				CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.TP645fs|CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.TP464fs	p.TP645fs			WXS	Illumina GAIIx	Phase_I	O75175	CNOT3_HUMAN			15	3538_3539	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		645			Pro-rich.		Q9NZN7|Q9UF76	Frame_Shift_Ins	INS	ENST00000406403.1	37	c.1935_1936insC	CCDS12880.1																																																																																				0.579	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		8	379						8	379	---	---	---	---
PCED1A	64773	broad.mit.edu	37	20	2816203	2816204	+	Frame_Shift_Ins	INS	-	-	C	rs371156741		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:2816203_2816204insC	ENST00000360652.2	-	8	1771_1772	c.1269_1270insG	c.(1267-1272)gggcccfs	p.P424fs	PCED1A_ENST00000356872.3_Frame_Shift_Ins_p.P373fs	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	424																	TGCCTGCAGGGCCCCCCCATTC	0.624																																						ENST00000360652.2																			0											c.(1267-1272)ggcctgfs		PC-esterase domain containing 1A																																				SO:0001589	frameshift_variant	64773							g.chr20:2816203_2816204insC	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.1270dupG	20.37:g.2816210_2816210dupC	ENSP00000353868:p.Pro424fs		Somatic				PCED1A_ENST00000356872.3_Frame_Shift_Ins_p.L373fs	p.L424fs	NM_022760.3	NP_073597.2	WXS	Illumina GAIIx	Phase_I					8	1771_1772	-								Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Frame_Shift_Ins	INS	ENST00000360652.2	37	c.1269_1270insG	CCDS13035.1																																																																																				0.624	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		7	142						7	142	---	---	---	---
ATRN	8455	broad.mit.edu	37	20	3564725	3564726	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:3564725_3564726insC	ENST00000262919.5	+	17	3013_3014	c.2945_2946insC	c.(2944-2949)tgccccfs	p.CP982fs	ATRN_ENST00000446916.2_Frame_Shift_Ins_p.CP982fs	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	982	PSI 3.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ATGAGCACCTGCCCCCGTAAGT	0.52																																						ENST00000262919.5																			0				breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2944-2946)tccfs		attractin																																				SO:0001589	frameshift_variant	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3564725_3564726insC	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2951dupC	20.37:g.3564730_3564730dupC	ENSP00000262919:p.Cys982fs		Somatic				ATRN_ENST00000446916.2_Frame_Shift_Ins_p.S982fs	p.S982fs	NM_139321.2	NP_647537.1	WXS	Illumina GAIIx	Phase_I	O75882	ATRN_HUMAN			17	3013_3014	+			982			PSI 3.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Frame_Shift_Ins	INS	ENST00000262919.5	37	c.2945_2946insC	CCDS13053.1																																																																																				0.520	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		7	1006						7	1006	---	---	---	---
SMOX	54498	broad.mit.edu	37	20	4163027	4163028	+	Frame_Shift_Ins	INS	-	-	G	rs145014650|rs6084654		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:4163027_4163028insG	ENST00000305958.4	+	5	1126_1127	c.901_902insG	c.(901-903)cggfs	p.R301fs	SMOX_ENST00000346595.2_Intron|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000379460.2_Frame_Shift_Ins_p.R301fs|SMOX_ENST00000278795.3_Intron	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	301			R -> P (in dbSNP:rs6084654).		cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)	p.R301W(1)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGAGGAGCCCCGGGGGGGCAGG	0.673																																						ENST00000305958.4																			1	Substitution - Missense(1)	p.R301W(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26						c.(901-903)gggfs		spermine oxidase	Spermine(DB00127)																																			SO:0001589	frameshift_variant	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4163027_4163028insG	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.908dupG	20.37:g.4163034_4163034dupG	ENSP00000307252:p.Arg301fs		Somatic				SMOX_ENST00000379460.2_Frame_Shift_Ins_p.G301fs|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000278795.3_Intron	p.G301fs	NM_175839.1	NP_787033.1	WXS	Illumina GAIIx	Phase_I	Q9NWM0	SMOX_HUMAN			5	1126_1127	+			301		R -> P (in dbSNP:rs6084654).			A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Frame_Shift_Ins	INS	ENST00000305958.4	37	c.901_902insG	CCDS13075.1																																																																																				0.673	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		10	89						10	89	---	---	---	---
ISM1	140862	broad.mit.edu	37	20	13260474	13260475	+	Frame_Shift_Ins	INS	-	-	C	rs184602094|rs538119716	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:13260474_13260475insC	ENST00000262487.4	+	3	578_579	c.572_573insC	c.(571-576)aaccccfs	p.NP191fs	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	191						extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						AACTTCCTCAACCCCCCCAGGG	0.554																																						ENST00000262487.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						c.(571-573)accfs		isthmin 1, angiogenesis inhibitor																																				SO:0001589	frameshift_variant	140862					extracellular region		g.chr20:13260474_13260475insC	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.579dupC	20.37:g.13260481_13260481dupC	ENSP00000262487:p.Asn191fs		Somatic				TASP1_ENST00000539805.1_Intron	p.T191fs	NM_080826.1	NP_543016.1	WXS	Illumina GAIIx	Phase_I	B1AKI9	ISM1_HUMAN			3	578_579	+			191					Q8WVH9	Frame_Shift_Ins	INS	ENST00000262487.4	37	c.572_573insC	CCDS46579.1																																																																																				0.554	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			8	154						8	154	---	---	---	---
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gtgfs	p.V81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554																																						ENST00000217423.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16						c.(241-243)gaafs		cystatin S																																				SO:0001589	frameshift_variant	1472					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23667825_23667826insC		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.242dupG	20.37:g.23667832_23667832dupC	ENSP00000217423:p.Val81fs		Somatic					p.E81fs	NM_001899.2	NP_001890.1	WXS	Illumina GAIIx	Phase_I	P01036	CYTS_HUMAN			2	311_312	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		81					Q9UBI5|Q9UCS9	Frame_Shift_Ins	INS	ENST00000217423.3	37	c.241_242insG	CCDS13159.1																																																																																				0.554	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		24	431						24	431	---	---	---	---
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C	rs199845790		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:30737490_30737491insC	ENST00000398022.2	+	10	1243_1244	c.1008_1009insC	c.(1009-1011)cccfs	p.P337fs	TM9SF4_ENST00000217315.5_Frame_Shift_Ins_p.P320fs	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	337						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGTCTTCAGGCCCCCCCAGTA	0.604																																						ENST00000217315.5																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(955-960)agccccfs		transmembrane 9 superfamily protein member 4																																				SO:0001589	frameshift_variant	9777					integral to membrane		g.chr20:30737490_30737491insC	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1015dupC	20.37:g.30737497_30737497dupC	ENSP00000381104:p.Pro337fs		Somatic				TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs	p.SP319fs			WXS	Illumina GAIIx	Phase_I	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		10	1297_1298	+			336					B0QYT7|Q9NUA3	Frame_Shift_Ins	INS	ENST00000398022.2	37	c.957_958insC	CCDS13196.2																																																																																				0.604	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		9	132						9	132	---	---	---	---
DNMT3B	1789	broad.mit.edu	37	20	31384650	31384651	+	Frame_Shift_Ins	INS	-	-	G	rs200912653		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:31384650_31384651insG	ENST00000328111.2	+	13	1673_1674	c.1352_1353insG	c.(1351-1356)gaggggfs	p.EG451fs	DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.EG443fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.EG355fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.EG389fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	451	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTCTTTGAGGGGGGGCTCT	0.559																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1351-1353)gggfs		DNA (cytosine-5-)-methyltransferase 3 beta																																				SO:0001589	frameshift_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31384650_31384651insG		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1359dupG	20.37:g.31384657_31384657dupG	ENSP00000328547:p.Glu451fs		Somatic				DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.G443fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.G389fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.G355fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.G431fs	p.G451fs	NM_006892.3	NP_008823.1	WXS	Illumina GAIIx	Phase_I	Q9UBC3	DNM3B_HUMAN			13	1673_1674	+			451			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Frame_Shift_Ins	INS	ENST00000328111.2	37	c.1352_1353insG	CCDS13205.1																																																																																				0.559	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		9	205						9	205	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33337505	33337506	+	Frame_Shift_Ins	INS	-	-	G	rs61754975		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:33337505_33337506insG	ENST00000374796.2	-	10	5062_5063	c.2492_2493insC	c.(2491-2493)cctfs	p.P831fs	NCOA6_ENST00000359003.2_Frame_Shift_Ins_p.P831fs			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	831	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CCTGCACATGAGGGGGGACCAT	0.5																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(2491-2493)ccafs		nuclear receptor coactivator 6																																				SO:0001589	frameshift_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33337505_33337506insG	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2493dupC	20.37:g.33337511_33337511dupG	ENSP00000363929:p.Pro831fs		Somatic				NCOA6_ENST00000359003.2_Frame_Shift_Ins_p.P831fs	p.P831fs			WXS	Illumina GAIIx	Phase_I	Q14686	NCOA6_HUMAN			10	5062_5063	-			831			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Frame_Shift_Ins	INS	ENST00000374796.2	37	c.2492_2493insC	CCDS13241.1																																																																																				0.500	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		8	596						8	596	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)accfs	p.T379fs	MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.T157fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.T379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446																																						ENST00000262879.6																			1	Insertion - Frameshift(1)	p.H382fs*2(1)	lung(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1135-1137)cccfs		Ral GTPase activating protein, beta subunit (non-catalytic)																																				SO:0001589	frameshift_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37146232_37146233insC	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1142dupC	20.37:g.37146239_37146239dupC	ENSP00000262879:p.Thr379fs		Somatic				RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs	p.P379fs			WXS	Illumina GAIIx	Phase_I	Q86X10	RLGPB_HUMAN			8	1419_1420	+			379					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Ins	INS	ENST00000262879.6	37	c.1135_1136insC	CCDS13305.1																																																																																				0.446	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		19	269						19	269	---	---	---	---
LPIN3	64900	broad.mit.edu	37	20	39977798	39977799	+	Frame_Shift_Ins	INS	-	-	C	rs554789813|rs559175371	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:39977798_39977799insC	ENST00000373257.3	+	5	715_716	c.624_625insC	c.(625-627)cccfs	p.P209fs		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	209					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				ATGGCGAGTGGCCCCCCCAGGC	0.54																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(622-627)tgccccfs		lipin 3																																				SO:0001589	frameshift_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39977798_39977799insC	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.631dupC	20.37:g.39977805_39977805dupC	ENSP00000362354:p.Pro209fs		Somatic					p.CP208fs	NM_022896.1	NP_075047.1	WXS	Illumina GAIIx	Phase_I	Q9BQK8	LPIN3_HUMAN			5	715_716	+		Myeloproliferative disorder(115;0.000739)	208					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Frame_Shift_Ins	INS	ENST00000373257.3	37	c.624_625insC	CCDS33469.1																																																																																				0.540	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		10	209						10	209	---	---	---	---
RBPJL	11317	broad.mit.edu	37	20	43940237	43940238	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:43940237_43940238insC	ENST00000343694.3	+	4	338_339	c.266_267insC	c.(265-270)tgccccfs	p.CP89fs	RBPJL_ENST00000372741.3_Frame_Shift_Ins_p.CP89fs|RBPJL_ENST00000372743.1_Frame_Shift_Ins_p.CP89fs	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	89					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				AGGTTCTTCTGCCCCCCGCCCT	0.604											OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000343694.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(265-267)tccfs		recombination signal binding protein for immunoglobulin kappa J region-like																																				SO:0001589	frameshift_variant	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43940237_43940238insC	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.272dupC	20.37:g.43940243_43940243dupC	ENSP00000341243:p.Cys89fs		Somatic	OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	920	RBPJL_ENST00000372743.1_Frame_Shift_Ins_p.S89fs|RBPJL_ENST00000372741.3_Frame_Shift_Ins_p.S89fs	p.S89fs	NM_014276.2	NP_055091.2	WXS	Illumina GAIIx	Phase_I	Q9UBG7	RBPJL_HUMAN			4	338_339	+		Myeloproliferative disorder(115;0.0122)	89					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Frame_Shift_Ins	INS	ENST00000343694.3	37	c.266_267insC	CCDS13349.1																																																																																				0.604	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		8	265						8	265	---	---	---	---
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)cccgccfs	p.A465fs	SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.A50fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.A415fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.A383fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.A383fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.A418fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.A418fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	465					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.P464P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACAGCCAGGGCGGGGGGCACAT	0.604																																						ENST00000279027.4																			1	Substitution - coding silent(1)	p.P464P(1)	lung(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1390-1395)ccccctfs		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)																																			SO:0001589	frameshift_variant	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45194969_45194970insG	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1393dupC	20.37:g.45194975_45194975dupG	ENSP00000279027:p.Ala465fs		Somatic				SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs	p.PP464fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	WXS	Illumina GAIIx	Phase_I	Q8WWT9	S13A3_HUMAN			11	1410_1411	-		Myeloproliferative disorder(115;0.0122)	464					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Frame_Shift_Ins	INS	ENST00000279027.4	37	c.1392_1393insC	CCDS13400.1																																																																																				0.604	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			11	630						11	630	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989890	47989891	+	Frame_Shift_Ins	INS	-	-	G	rs151175979		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:47989890_47989891insG	ENST00000371741.4	-	2	2372_2373	c.2206_2207insC	c.(2206-2208)cggfs	p.R736fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	736					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CTCAGGAGACCGGGGGGGTGTC	0.559																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2206-2208)gtcfs		potassium voltage-gated channel, Shab-related subfamily, member 1																																				SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989890_47989891insG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2207dupC	20.37:g.47989897_47989897dupG	ENSP00000360806:p.Arg736fs		Somatic					p.V736fs	NM_004975.2	NP_004966.1	WXS	Illumina GAIIx	Phase_I	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2372_2373	-			736					Q14193	Frame_Shift_Ins	INS	ENST00000371741.4	37	c.2206_2207insC	CCDS13418.1																																																																																				0.559	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		12	225						12	225	---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50400982	50400983	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:50400982_50400983insC	ENST00000217086.4	-	4	3094_3095	c.2983_2984insG	c.(2983-2985)gttfs	p.V995fs	SALL4_ENST00000371539.3_Frame_Shift_Ins_p.V218fs|SALL4_ENST00000395997.3_Frame_Shift_Ins_p.V558fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	995					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGGGTAGGAACCCCCCCACTC	0.559																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2983-2985)tccfs		spalt-like transcription factor 4																																				SO:0001589	frameshift_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50400982_50400983insC	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2984dupG	20.37:g.50400989_50400989dupC	ENSP00000217086:p.Val995fs		Somatic				SALL4_ENST00000395997.3_Frame_Shift_Ins_p.S558fs|SALL4_ENST00000371539.3_Frame_Shift_Ins_p.S218fs	p.S995fs	NM_020436.3	NP_065169.1	WXS	Illumina GAIIx	Phase_I	Q9UJQ4	SALL4_HUMAN			4	3094_3095	-			995					A2A2D8|Q540H3|Q6Y8G6	Frame_Shift_Ins	INS	ENST00000217086.4	37	c.2983_2984insG	CCDS13438.1																																																																																				0.559	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			10	166						10	166	---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G	rs535504707		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)cctfs	p.P552fs	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000371518.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	552					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1654-1656)ccafs		ZFP64 zinc finger protein			,,,	11,4249		0,11,2119					,,,	-3.3	0.0			34	3,8249		0,3,4123	no	intron,frameshift,frameshift,frameshift	ZFP64	NM_199427.2,NM_199426.1,NM_022088.4,NM_018197.2	,,,	0,14,6242	A1A1,A1R,RR		0.0364,0.2582,0.1119	,,,	,,,		14,12498				SO:0001589	frameshift_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769075_50769076insG	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1656dupC	20.37:g.50769082_50769082dupG	ENSP00000216923:p.Pro552fs		Somatic				ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000477786.1_Intron	p.P552fs	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	WXS	Illumina GAIIx	Phase_I	Q9NPA5	ZF64A_HUMAN			6	2004_2005	-			552					Q9NTS7|Q9NVH4	Frame_Shift_Ins	INS	ENST00000216923.4	37	c.1655_1656insC	CCDS13440.1																																																																																				0.673	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		11	158						11	158	---	---	---	---
OSBPL2	9885	broad.mit.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:60854257_60854258insC	ENST00000313733.3	+	7	738_739	c.536_537insC	c.(535-540)caccccfs	p.HP179fs	OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.HP167fs|OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.HP87fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	179					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTCAGTCACCACCCCCCCATCA	0.465																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(535-537)cccfs		oxysterol binding protein-like 2			,	18,4246		0,18,2114					,	4.9	1.0			111	7,8247		0,7,4120	no	frameshift,frameshift	OSBPL2	NM_144498.1,NM_014835.2	,	0,25,6234	A1A1,A1R,RR		0.0848,0.4221,0.1997	,	,		25,12493				SO:0001589	frameshift_variant	9885				lipid transport		lipid binding	g.chr20:60854257_60854258insC	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.543dupC	20.37:g.60854264_60854264dupC	ENSP00000316649:p.His179fs		Somatic				OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs|OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs	p.P179fs	NM_144498.1	NP_653081.1	WXS	Illumina GAIIx	Phase_I	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		7	738_739	+	Breast(26;7.76e-09)		179					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Frame_Shift_Ins	INS	ENST00000313733.3	37	c.536_537insC	CCDS13495.1																																																																																				0.465	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		21	275						21	275	---	---	---	---
ERG	2078	broad.mit.edu	37	21	39755553	39755554	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr21:39755553_39755554insG	ENST00000417133.2	-	12	1417_1418	c.1232_1233insC	c.(1231-1233)ccgfs	p.P411fs	ERG_ENST00000453032.2_Frame_Shift_Ins_p.P312fs|ERG_ENST00000398897.1_Frame_Shift_Ins_p.P288fs|ERG_ENST00000398907.1_Frame_Shift_Ins_p.P381fs|ERG_ENST00000398910.1_Frame_Shift_Ins_p.P388fs|ERG_ENST00000398905.1_Frame_Shift_Ins_p.P380fs|ERG_ENST00000288319.7_Frame_Shift_Ins_p.P404fs|ERG_ENST00000398911.1_Frame_Shift_Ins_p.P387fs|ERG_ENST00000442448.1_Frame_Shift_Ins_p.P387fs|ERG_ENST00000398919.2_Frame_Shift_Ins_p.P411fs	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GAGATGACTCCGGGGGGTGGGG	0.589			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	ENST00000442448.1				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""		"""Ewing sarcoma, prostate, AML"""	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	0				lung(2)|ovary(1)|skin(1)	4						c.(1159-1161)cgafs		v-ets avian erythroblastosis virus E26 oncogene homolog																																				SO:0001589	frameshift_variant	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39755553_39755554insG		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.1233dupC	21.37:g.39755559_39755559dupG	ENSP00000414150:p.Pro411fs		Somatic				ERG_ENST00000398910.1_Frame_Shift_Ins_p.R388fs|ERG_ENST00000398905.1_Frame_Shift_Ins_p.R380fs|ERG_ENST00000398911.1_Frame_Shift_Ins_p.R387fs|ERG_ENST00000398897.1_Frame_Shift_Ins_p.R288fs|ERG_ENST00000288319.7_Frame_Shift_Ins_p.R404fs|ERG_ENST00000398907.1_Frame_Shift_Ins_p.R381fs|ERG_ENST00000453032.2_Frame_Shift_Ins_p.R312fs|ERG_ENST00000398919.2_Frame_Shift_Ins_p.R411fs|ERG_ENST00000417133.2_Frame_Shift_Ins_p.R411fs	p.R387fs	NM_004449.4	NP_004440.1	WXS	Illumina GAIIx	Phase_I	P11308	ERG_HUMAN			11	1431_1432	-		Prostate(19;3.6e-06)	411					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Frame_Shift_Ins	INS	ENST00000417133.2	37	c.1160_1161insC	CCDS46648.1																																																																																				0.589	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		7	152						7	152	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)cccgaafs	p.E1093fs		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1093	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			1	Substitution - Missense(1)	p.E1093K(1)	skin(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(3274-3279)ccaaaafs		Down syndrome cell adhesion molecule																																				SO:0001589	frameshift_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41514614_41514615insG	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3277dupC	21.37:g.41514621_41514621dupG	ENSP00000383303:p.Glu1093fs		Somatic					p.PK1092fs	NM_001389.3	NP_001380.2	WXS	Illumina GAIIx	Phase_I	O60469	DSCAM_HUMAN			18	3753_3754	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1092			Fibronectin type-III 3.		O60468	Frame_Shift_Ins	INS	ENST00000400454.1	37	c.3276_3277insC	CCDS42929.1																																																																																				0.406	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		19	594						19	594	---	---	---	---
TMPRSS3	64699	broad.mit.edu	37	21	43804123	43804130	+	Splice_Site	DEL	CTAAAGCG	CTAAAGCG	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr21:43804123_43804130delCTAAAGCG	ENST00000291532.3	-	7	1528		c.e7-1		TMPRSS3_ENST00000398397.3_Splice_Site|TMPRSS3_ENST00000380399.1_Splice_Site|TMPRSS3_ENST00000398405.1_Splice_Site|TMPRSS3_ENST00000474596.1_Splice_Site|TMPRSS3_ENST00000433957.2_Splice_Site	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3						cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						ACATCCCTCCCTAAAGCGGAGAAAAAGT	0.471																																						ENST00000291532.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						c.e7-1		transmembrane protease, serine 3																																				SO:0001630	splice_region_variant	64699				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	g.chr21:43804123_43804130delCTAAAGCG	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.573-1CGCTTTAG>-	21.37:g.43804123_43804130delCTAAAGCG			Somatic				TMPRSS3_ENST00000433957.2_Splice_Site|TMPRSS3_ENST00000474596.1_Splice_Site|TMPRSS3_ENST00000398405.1_Splice_Site|TMPRSS3_ENST00000380399.1_Splice_Site|TMPRSS3_ENST00000398397.3_Splice_Site		NM_032404.2	NP_115780.1	WXS	Illumina GAIIx	Phase_I	P57727	TMPS3_HUMAN			7	1528	-								D3DSJ6|Q5USC7|Q6ZMC3	Splice_Site	DEL	ENST00000291532.3	37		CCDS13686.1																																																																																				0.471	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1		Intron	8	25						8	25	---	---	---	---
PDE9A	5152	broad.mit.edu	37	21	44171249	44171250	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr21:44171249_44171250insT	ENST00000291539.6	+	9	737_738	c.677_678insT	c.(676-681)agttttfs	p.SF226fs	PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.SF98fs|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.SF125fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.SF92fs|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.SF166fs|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.SF99fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.SF159fs|PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.SF66fs|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.SF140fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.SF185fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.SF173fs|PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.SF98fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.SF124fs|PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.SF200fs	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	226					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	TGTAAGTACAGTTTTTTGGATA	0.52																																						ENST00000291539.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(676-678)attfs		phosphodiesterase 9A																																				SO:0001589	frameshift_variant	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44171249_44171250insT	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.683dupT	21.37:g.44171255_44171255dupT	ENSP00000291539:p.Ser226fs		Somatic				PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.I66fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.I185fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.I166fs|PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.I200fs|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.I140fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.I92fs|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.I99fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.I159fs|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.I125fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.I124fs|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.I173fs	p.I226fs	NM_002606.2	NP_002597.1	WXS	Illumina GAIIx	Phase_I	O76083	PDE9A_HUMAN			9	737_738	+			226					B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Frame_Shift_Ins	INS	ENST00000291539.6	37	c.677_678insT	CCDS13690.1																																																																																				0.520	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			8	949						8	949	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47663396	47663397	+	Frame_Shift_Ins	INS	-	-	G	rs34589822	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr21:47663396_47663397insG	ENST00000397708.1	-	25	5532_5533	c.5278_5279insC	c.(5278-5280)cggfs	p.R1760fs	MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.R1760fs|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1760	Acetyltransferase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AACAGGAAGCCGGGGGGGCGTC	0.525																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(5278-5280)gctfs		minichromosome maintenance complex component 3 associated protein																																				SO:0001589	frameshift_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47663396_47663397insG	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5279dupC	21.37:g.47663403_47663403dupG	ENSP00000380820:p.Arg1760fs		Somatic				MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.A1760fs|MCM3AP_ENST00000467026.1_5'UTR	p.A1760fs			WXS	Illumina GAIIx	Phase_I	O60318	MCM3A_HUMAN			25	5532_5533	-	Breast(49;0.112)		1760					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Ins	INS	ENST00000397708.1	37	c.5278_5279insC	CCDS13734.1																																																																																				0.525	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		10	483						10	483	---	---	---	---
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398																																						ENST00000444162.1																			0																																																			0							g.chr22:16419352delT																													22.37:g.16419352delT			Somatic								WXS	Illumina GAIIx	Phase_I					0	279	+									RNA	DEL	ENST00000444162.1	37																																																																																						0.398	LA16c-23H5.4-004	KNOWN	basic	antisense	antisense	OTTHUMT00000074929.2			2	4						2	4	---	---	---	---
CECR1	51816	broad.mit.edu	37	22	17662759	17662760	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:17662759_17662760insC	ENST00000399839.1	-	9	1662_1663	c.1392_1393insG	c.(1390-1395)gggatgfs	p.M465fs	CECR1_ENST00000262607.3_Frame_Shift_Ins_p.M465fs|CECR1_ENST00000399837.2_Frame_Shift_Ins_p.M465fs|CECR1_ENST00000330232.4_Frame_Shift_Ins_p.M224fs|CECR1_ENST00000449907.2_Frame_Shift_Ins_p.M423fs	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	465					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TCAGCCTTCATCCCCCCAATGC	0.564																																						ENST00000399839.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25						c.(1390-1395)ggtgaafs		cat eye syndrome chromosome region, candidate 1																																				SO:0001589	frameshift_variant	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17662759_17662760insC	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1393dupG	22.37:g.17662765_17662765dupC	ENSP00000382733:p.Met465fs		Somatic				CECR1_ENST00000449907.2_Frame_Shift_Ins_p.E423fs|CECR1_ENST00000262607.3_Frame_Shift_Ins_p.E465fs|CECR1_ENST00000330232.4_Frame_Shift_Ins_p.E224fs|CECR1_ENST00000399837.2_Frame_Shift_Ins_p.E465fs	p.E465fs			WXS	Illumina GAIIx	Phase_I	Q9NZK5	CECR1_HUMAN			9	1662_1663	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	465					A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Frame_Shift_Ins	INS	ENST00000399839.1	37	c.1392_1393insG	CCDS13742.1																																																																																				0.564	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			11	384						11	384	---	---	---	---
GNAZ	2781	broad.mit.edu	37	22	23438487	23438488	+	Frame_Shift_Ins	INS	-	-	G	rs201266285	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:23438487_23438488insG	ENST00000248996.4	+	2	1271_1272	c.605_606insG	c.(604-609)gtggggfs	p.VG202fs	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	202					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		ATGGTGGACGTGGGGGGGCAGA	0.574																																						ENST00000248996.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(604-606)gggfs		guanine nucleotide binding protein (G protein), alpha z polypeptide																																				SO:0001589	frameshift_variant	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23438487_23438488insG		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.612dupG	22.37:g.23438494_23438494dupG	ENSP00000248996:p.Val202fs		Somatic				RTDR1_ENST00000216036.4_Intron	p.G202fs	NM_002073.2	NP_002064.1	WXS	Illumina GAIIx	Phase_I	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	1271_1272	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		202					B2R6C1|Q4QRJ6	Frame_Shift_Ins	INS	ENST00000248996.4	37	c.605_606insG	CCDS13804.1																																																																																				0.574	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		7	107						7	107	---	---	---	---
ZDHHC8P1	150244	broad.mit.edu	37	22	23742494	23742495	+	RNA	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:23742494_23742495insG	ENST00000255890.4	-	0	714_715									zinc finger, DHHC-type containing 8 pseudogene 1																		GGGCAGTGCATGGGGGGGCAAA	0.663																																						ENST00000255890.4																			0																																																			150244							g.chr22:23742494_23742495insG			22q11.23	2010-02-25	2010-02-25	2010-02-25	ENSG00000133519	ENSG00000133519			26461	pseudogene	pseudogene			"""zinc finger, DHHC-type containing 8 pseudogene"""	ZDHHC8P			Standard	NR_003950		Approved	FLJ31568	uc002zwz.5		OTTHUMG00000150650		22.37:g.23742501_23742501dupG			Somatic								WXS	Illumina GAIIx	Phase_I					0	714_715	-									RNA	INS	ENST00000255890.4	37																																																																																						0.663	ZDHHC8P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319397.1	NR_003950		3	3						3	3	---	---	---	---
ZNF70	7621	broad.mit.edu	37	22	24087085	24087086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:24087085_24087086insG	ENST00000341976.3	-	2	702_703	c.242_243insC	c.(241-243)ccafs	p.P81fs		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GTCTGGTTCCTGGGGGGATACT	0.495																																						ENST00000341976.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						c.(241-243)cggfs		zinc finger protein 70																																				SO:0001589	frameshift_variant	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24087085_24087086insG	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.243dupC	22.37:g.24087091_24087091dupG	ENSP00000339314:p.Pro81fs		Somatic					p.R81fs	NM_021916.2	NP_068735.1	WXS	Illumina GAIIx	Phase_I	Q9UC06	ZNF70_HUMAN			2	702_703	-			81						Frame_Shift_Ins	INS	ENST00000341976.3	37	c.242_243insC	CCDS13812.1																																																																																				0.495	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		11	1174						11	1174	---	---	---	---
THOC5	8563	broad.mit.edu	37	22	29925230	29925231	+	Splice_Site	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:29925230_29925231insG	ENST00000490103.1	-	9	970		c.e9-2		THOC5_ENST00000397873.2_Splice_Site|THOC5_ENST00000397872.1_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Splice_Site	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5						blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACGTCTTATCTGGGGGGCAAGA	0.535																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.e9-2		THO complex 5			,,,	0,4264		0,0,2132					,,,	5.4	1.0			108	1,8253		0,1,4126	no	splice-3,splice-3,splice-3,splice-3	THOC5	NM_003678.4,NM_001002879.1,NM_001002878.1,NM_001002877.1	,,,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,,,	,,,		1,12517				SO:0001630	splice_region_variant	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29925230_29925231insG	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.848-2->C	22.37:g.29925236_29925236dupG			Somatic				THOC5_ENST00000397873.2_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Splice_Site|THOC5_ENST00000397872.1_Splice_Site		NM_003678.4	NP_003669.4	WXS	Illumina GAIIx	Phase_I	Q13769	THOC5_HUMAN			9	970	-								O60839|Q9UPZ5	Splice_Site	INS	ENST00000490103.1	37		CCDS13859.1																																																																																				0.535	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678	Intron	16	900						16	900	---	---	---	---
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	163					ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381																																					Ovarian(55;1085 1454 6392 21425)	ENST00000396821.3																			1	Deletion - Frameshift(1)	p.G163fs*20(1)	lung(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(487-489)ggafs		DEAD (Asp-Glu-Ala-Asp) box helicase 17																																				SO:0001589	frameshift_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38895454_38895455insC	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.489dupG	22.37:g.38895461_38895461dupC	ENSP00000380033:p.Gly163fs		Somatic				DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs|DDX17_ENST00000432525.1_5'UTR	p.G163fs	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	WXS	Illumina GAIIx	Phase_I	Q92841	DDX17_HUMAN			3	587_588	-	Melanoma(58;0.0286)		84			Helicase ATP-binding.		B1AHM0|Q69YT1|Q6ICD6	Frame_Shift_Ins	INS	ENST00000396821.3	37	c.488_489insG	CCDS46706.1																																																																																				0.381	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		16	332						16	332	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40681766	40681767	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:40681766_40681767insC	ENST00000454349.2	+	12	3911_3912	c.3700_3701insC	c.(3700-3702)tccfs	p.S1234fs	TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.S430fs|TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.S430fs|TNRC6B_ENST00000335727.9_Frame_Shift_Ins_p.S1124fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1234	Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CCAGTTTATTTCCCCCCAGGTA	0.45																																						ENST00000454349.2																			0				breast(1)	1						c.(3700-3702)cccfs		trinucleotide repeat containing 6B																																				SO:0001589	frameshift_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40681766_40681767insC	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.3706dupC	22.37:g.40681772_40681772dupC	ENSP00000401946:p.Ser1234fs		Somatic				TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.P1124fs|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.P430fs	p.P1234fs	NM_001162501.1	NP_001155973.1	WXS	Illumina GAIIx	Phase_I	Q9UPQ9	TNR6B_HUMAN			12	3911_3912	+			1234					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Frame_Shift_Ins	INS	ENST00000454349.2	37	c.3700_3701insC	CCDS54533.1																																																																																				0.450	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				8	567						8	567	---	---	---	---
CERK	64781	broad.mit.edu	37	22	47086001	47086002	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:47086001_47086002insC	ENST00000216264.8	-	12	1540_1541	c.1428_1429insG	c.(1426-1431)gggaagfs	p.K477fs	CERK_ENST00000541677.1_Frame_Shift_Ins_p.K279fs|CERK_ENST00000471929.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	477					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)	p.K477fs*>61(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AAGCGCTTCTTCCCCCCCTCCT	0.559																																						ENST00000216264.8																			1	Deletion - Frameshift(1)	p.K477fs*>61(1)	ovary(1)	cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20						c.(1426-1431)ggagaafs		ceramide kinase																																				SO:0001589	frameshift_variant	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47086001_47086002insC	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.1429dupG	22.37:g.47086008_47086008dupC	ENSP00000216264:p.Lys477fs		Somatic				CERK_ENST00000541677.1_Frame_Shift_Ins_p.E279fs|CERK_ENST00000471929.1_5'UTR	p.E477fs	NM_022766.5	NP_073603.2	WXS	Illumina GAIIx	Phase_I	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	12	1540_1541	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	477					A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Frame_Shift_Ins	INS	ENST00000216264.8	37	c.1428_1429insG	CCDS14077.1																																																																																				0.559	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		7	172						7	172	---	---	---	---
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-93)caccccfs	p.HP30fs	TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.HP30fs|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000406733.1_5'UTR	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	30							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTTG	0.569																																						ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(88-90)cccfs		TBC1 domain family, member 22A																																				SO:0001589	frameshift_variant	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47188443_47188444insC	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.96dupC	22.37:g.47188450_47188450dupC	ENSP00000336724:p.His30fs		Somatic				TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000355704.3_Intron	p.P30fs	NM_014346.2	NP_055161.1	WXS	Illumina GAIIx	Phase_I	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	2	255_256	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	30					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Frame_Shift_Ins	INS	ENST00000337137.4	37	c.89_90insC	CCDS14078.1																																																																																				0.569	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		142	2634						142	2634	---	---	---	---
DHRSX	207063	broad.mit.edu	37	X	2343335	2343336	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:2343335_2343336insG	ENST00000334651.5	-	2	171_172	c.119_120insC	c.(118-120)ccafs	p.P40fs		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	40							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GGTCAGGTCGTGGGGGGAAAAC	0.455																																						ENST00000334651.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16						c.(118-120)ccgfs		dehydrogenase/reductase (SDR family) X-linked																																				SO:0001589	frameshift_variant	207063						binding|oxidoreductase activity	g.chrX:2343335_2343336insG	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.120dupC	X.37:g.2343341_2343341dupG	ENSP00000334113:p.Pro40fs		Somatic					p.P40fs	NM_145177.2	NP_660160.2	WXS	Illumina GAIIx	Phase_I	Q8N5I4	DHRSX_HUMAN			2	171_172	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	40					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Frame_Shift_Ins	INS	ENST00000334651.5	37	c.119_120insC	CCDS35195.1																																																																																				0.455	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		10	492						10	492	---	---	---	---
AMELX	265	broad.mit.edu	37	X	11316741	11316742	+	Frame_Shift_Ins	INS	-	-	C	rs2106416	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:11316741_11316742insC	ENST00000380714.3	+	5	286_287	c.218_219insC	c.(217-222)caccccfs	p.HP73fs	AMELX_ENST00000348912.4_Frame_Shift_Ins_p.HP57fs|AMELX_ENST00000380712.3_Frame_Shift_Ins_p.HP87fs|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	73					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						TCCCAACAGCACCCCCCGACTC	0.594																																						ENST00000380712.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						c.(259-261)cccfs		amelogenin, X-linked																																				SO:0001589	frameshift_variant	265				cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	g.chrX:11316741_11316742insC		CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"""amelogenesis imperfecta 1"""	300391	"""amelogenin (X chromosome, amelogenesis imperfecta 1)"""	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.224dupC	X.37:g.11316747_11316747dupC	ENSP00000370090:p.His73fs		Somatic				ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000413512.3_Intron|AMELX_ENST00000380714.3_Frame_Shift_Ins_p.P73fs|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000348912.4_Frame_Shift_Ins_p.P57fs|ARHGAP6_ENST00000337414.4_Intron	p.P87fs	NM_182680.1	NP_872621.1	WXS	Illumina GAIIx	Phase_I	Q99217	AMELX_HUMAN			6	328_329	+			73					Q96NW6|Q9UCA7	Frame_Shift_Ins	INS	ENST00000380714.3	37	c.260_261insC	CCDS14144.1																																																																																				0.594	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055746.1	NM_001142		8	390						8	390	---	---	---	---
USP9X	8239	broad.mit.edu	37	X	40982956	40982957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:40982956_40982957insC	ENST00000324545.8	+	2	708_709	c.75_76insC	c.(76-78)cccfs	p.P26fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.P26fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	26					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GACAGTCTCAGCCCCCCCTCCA	0.54																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(73-78)caccccfs		ubiquitin specific peptidase 9, X-linked																																				SO:0001589	frameshift_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:40982956_40982957insC	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.82dupC	X.37:g.40982963_40982963dupC	ENSP00000316357:p.Pro26fs		Somatic				USP9X_ENST00000378308.2_Frame_Shift_Ins_p.HP25fs	p.HP25fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	WXS	Illumina GAIIx	Phase_I	Q93008	USP9X_HUMAN			2	708_709	+			25	Q -> L (in Ref. 1; CAA66942).				O75550|Q8WWT3|Q8WX12	Frame_Shift_Ins	INS	ENST00000324545.8	37	c.75_76insC	CCDS43930.1																																																																																				0.540	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		10	290						10	290	---	---	---	---
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	RNA	INS	-	-	G	rs41305745		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:48159107_48159108insG	ENST00000608568.1	-	0	580					NR_073393.1		Q7RTT3	SSX9_HUMAN	synovial sarcoma, X breakpoint 9						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.49																																						ENST00000376909.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						c.(424-426)cggfs																																								280660							g.chrX:48159107_48159108insG	BK000689		Xp11.23	2013-01-16			ENSG00000204648	ENSG00000204648			19655	other	unknown		300544				12216073	Standard	NR_073393		Approved		uc031tjk.1	Q7RTT3	OTTHUMG00000021490		X.37:g.48159113_48159113dupG			Somatic				SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs	p.R142fs			WXS	Illumina GAIIx	Phase_I					6	487_488	-									Frame_Shift_Ins	INS	ENST00000608568.1	37	c.425_426insC																																																																																					0.490	SSX9-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000472372.1	NR_073393		21	924						21	924	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)gaafs	p.E161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.E73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.48																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			0				endometrium(3)|large_intestine(1)|lung(9)	13						c.(481-483)acafs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48207024_48207025insC	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.482dupG	X.37:g.48207030_48207030dupC	ENSP00000298396:p.Glu161fs		Somatic				SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	p.T161fs	NM_021014.2	NP_066294.1	WXS	Illumina GAIIx	Phase_I	Q99909	SSX3_HUMAN			7	533_534	-			161					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.481_482insG	CCDS14291.1																																																																																				0.480	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		18	1737						18	1737	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)ccgfs	p.P142fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.P54fs|SSX3_ENST00000376893.3_Frame_Shift_Ins_p.P142fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			2	Substitution - Missense(2)	p.P142Q(2)	lung(2)	endometrium(3)|large_intestine(1)|lung(9)	13						c.(424-426)cggfs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48209462_48209463insG	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.426dupC	X.37:g.48209468_48209468dupG	ENSP00000298396:p.Pro142fs		Somatic				SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs	p.R142fs	NM_021014.2	NP_066294.1	WXS	Illumina GAIIx	Phase_I	Q99909	SSX3_HUMAN			6	477_478	-			142					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.425_426insC	CCDS14291.1																																																																																				0.495	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		16	809						16	809	---	---	---	---
ZC3H12B	340554	broad.mit.edu	37	X	64722003	64722004	+	Frame_Shift_Ins	INS	-	-	C	rs375421440		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:64722003_64722004insC	ENST00000338957.4	+	5	1492_1493	c.1425_1426insC	c.(1426-1428)cccfs	p.P476fs	ZC3H12B_ENST00000423889.3_Frame_Shift_Ins_p.P465fs	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	476							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCACAATCCCACCCCCCAAAAG	0.594																																						ENST00000338957.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1423-1428)ccccccfs		zinc finger CCCH-type containing 12B																																				SO:0001589	frameshift_variant	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64722003_64722004insC	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1431dupC	X.37:g.64722009_64722009dupC	ENSP00000340839:p.Pro476fs		Somatic				ZC3H12B_ENST00000423889.3_Frame_Shift_Ins_p.PP464fs	p.PP475fs	NM_001010888.3	NP_001010888.3	WXS	Illumina GAIIx	Phase_I	Q5HYM0	ZC12B_HUMAN			5	1492_1493	+			464					B2RTQ3|E9PAJ6|Q5H9C0	Frame_Shift_Ins	INS	ENST00000338957.4	37	c.1425_1426insC	CCDS48131.2																																																																																				0.594	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		8	394						8	394	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65486286	65486287	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:65486286_65486287insC	ENST00000343002.2	+	20	3913_3914	c.3249_3250insC	c.(3250-3252)cccfs	p.P1084fs	HEPH_ENST00000519389.1_Frame_Shift_Ins_p.P1138fs|HEPH_ENST00000441993.2_Splice_Site_p.P1086fs|HEPH_ENST00000419594.1_Frame_Shift_Ins_p.P895fs|HEPH_ENST00000336279.5_Frame_Shift_Ins_p.P817fs|HEPH_ENST00000374727.3_Frame_Shift_Ins_p.P1087fs			Q9BQS7	HEPH_HUMAN	hephaestin	1084	Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TTTCAGCAGTGCCCCCCAGAGA	0.436																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(3409-3414)gtccccfs		hephaestin																																				SO:0001589	frameshift_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65486286_65486287insC	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3255dupC	X.37:g.65486292_65486292dupC	ENSP00000343939:p.Pro1084fs		Somatic				HEPH_ENST00000343002.2_Frame_Shift_Ins_p.VP1083fs|HEPH_ENST00000374727.3_Frame_Shift_Ins_p.VP1086fs|HEPH_ENST00000419594.1_Frame_Shift_Ins_p.VP894fs|HEPH_ENST00000336279.5_Frame_Shift_Ins_p.VP816fs|HEPH_ENST00000441993.2_Splice_Site_p.VP1085_splice	p.VP1137fs			WXS	Illumina GAIIx	Phase_I	Q9BQS7	HEPH_HUMAN			21	3590_3591	+			1083					B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Frame_Shift_Ins	INS	ENST00000343002.2	37	c.3411_3412insC																																																																																					0.436	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		7	290						7	290	---	---	---	---
STARD8	9754	broad.mit.edu	37	X	67943519	67943520	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:67943519_67943520insC	ENST00000252336.6	+	12	2983_2984	c.2611_2612insC	c.(2611-2613)gccfs	p.A871fs	STARD8_ENST00000374599.3_Frame_Shift_Ins_p.A951fs|STARD8_ENST00000374597.3_Frame_Shift_Ins_p.A871fs	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	871	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.A874fs*16(2)|p.A954fs*16(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						AGAGGTGGCAGCCCCCCCAGCT	0.678																																						ENST00000252336.6																			3	Insertion - Frameshift(3)	p.A874fs*16(2)|p.A954fs*16(1)	large_intestine(3)	NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						c.(2611-2613)cccfs		StAR-related lipid transfer (START) domain containing 8			,,	19,3628		1,14,3,1555,504					,,	3.6	0.0			14	27,6388		0,14,13,2327,1720	no	frameshift,frameshift,frameshift	STARD8	NM_014725.4,NM_001142504.2,NM_001142503.2	,,	1,28,16,3882,2224	A1A1,A1R,A1,RR,R		0.4209,0.521,0.4572	,,	,,		46,10016				SO:0001589	frameshift_variant	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67943519_67943520insC	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.2618dupC	X.37:g.67943526_67943526dupC	ENSP00000252336:p.Ala871fs		Somatic				STARD8_ENST00000374599.3_Frame_Shift_Ins_p.P951fs|STARD8_ENST00000374597.3_Frame_Shift_Ins_p.P871fs	p.P871fs	NM_014725.4	NP_055540.2	WXS	Illumina GAIIx	Phase_I	Q92502	STAR8_HUMAN			12	2983_2984	+			871			START.		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Frame_Shift_Ins	INS	ENST00000252336.6	37	c.2611_2612insC	CCDS14390.1																																																																																				0.678	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		2	4						2	4	---	---	---	---
RGAG4	340526	broad.mit.edu	37	X	71349802	71349803	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:71349802_71349803insG	ENST00000545866.1	-	1	1955_1956	c.1588_1589insC	c.(1588-1590)caafs	p.Q530fs	RGAG4_ENST00000609883.1_Frame_Shift_Ins_p.Q530fs|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	530										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GCGAATCAGTTGGGGGGAGCTG	0.579																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(1588-1590)actfs		retrotransposon gag domain containing 4																																				SO:0001589	frameshift_variant	340526							g.chrX:71349802_71349803insG	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1589dupC	X.37:g.71349808_71349808dupG	ENSP00000441366:p.Gln530fs		Somatic				RGAG4_ENST00000479991.1_Frame_Shift_Ins_p.T530fs|NHSL2_ENST00000540800.1_Intron	p.T530fs			WXS	Illumina GAIIx	Phase_I	Q5HYW3	RGAG4_HUMAN			1	1955_1956	-	Renal(35;0.156)		530					A7E2W7|Q8NCM4|Q9NPX1	Frame_Shift_Ins	INS	ENST00000545866.1	37	c.1588_1589insC	CCDS55446.1																																																																																				0.579	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		8	189						8	189	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	lincRNA	DEL	AC	AC	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GCCACACATGACACACACACAC	0.47																																						ENST00000604411.1																			0																	21,2160		6,4,5,902,352						-3.8	0.0			146	63,3745		10,20,23,1404,917	no	intergenic				16,24,28,2306,1269	A1A1,A1R,A1,RR,R		1.6544,0.9629,1.4026				84,5905						9383							g.chrX:73047124_73047125delAC			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73047134_73047135delAC			Somatic				XIST_ENST00000429829.1_lincRNA		NR_003255.2		WXS	Illumina GAIIx	Phase_I					0	35085_35086	+									RNA	DEL	ENST00000604411.1	37																																																																																						0.470	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		7	312						7	312	---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73963268	73963269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:73963268_73963269insC	ENST00000055682.6	-	3	1734_1735	c.1123_1124insG	c.(1123-1125)gagfs	p.E375fs		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	375					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTATCTTCCTCCCCCCAGATG	0.475																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(1123-1125)ggafs		KIAA2022																																				SO:0001589	frameshift_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963268_73963269insC		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1124dupG	X.37:g.73963274_73963274dupC	ENSP00000055682:p.Glu375fs		Somatic				KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.G375fs	p.G375fs			WXS	Illumina GAIIx	Phase_I	Q5QGS0	K2022_HUMAN			3	1774_1775	-			375					A7YY87|Q5JUX9|Q8IVE9	Frame_Shift_Ins	INS	ENST00000055682.6	37	c.1123_1124insG	CCDS35337.1																																																																																				0.475	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		9	669						9	669	---	---	---	---
RAB40AL	282808	broad.mit.edu	37	X	102192383	102192384	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:102192383_102192384insG	ENST00000218249.5	+	1	184_185	c.137_138insG	c.(136-141)ctggggfs	p.LG46fs	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	46					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						TACAGTCACCTGGGGGGAATCG	0.599																																						ENST00000218249.5																			0				endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						c.(136-138)cggfs		RAB40A, member RAS oncogene family-like																																				SO:0001589	frameshift_variant	282808				protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding	g.chrX:102192383_102192384insG	BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"""Ras like GTPase"""	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.143dupG	X.37:g.102192389_102192389dupG	ENSP00000218249:p.Leu46fs		Somatic					p.R46fs	NM_001031834.1	NP_001027004.1	WXS	Illumina GAIIx	Phase_I	P0C0E4	RB40L_HUMAN			1	184_185	+			46					Q495H3	Frame_Shift_Ins	INS	ENST00000218249.5	37	c.137_138insG	CCDS35353.1																																																																																				0.599	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057679.1	NM_001031834		9	420						9	420	---	---	---	---
PLAC1	10761	broad.mit.edu	37	X	133700357	133700358	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:133700357_133700358insG	ENST00000359237.4	-	3	640_641	c.355_356insC	c.(355-357)caafs	p.Q119fs	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TGGGGACTTTTGGGGGGCAGCA	0.53																																						ENST00000359237.4																			0				large_intestine(4)|lung(1)|pancreas(1)	6						c.(355-357)aaafs		placenta-specific 1																																				SO:0001589	frameshift_variant	10761				placenta development	extracellular region		g.chrX:133700357_133700358insG	AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"""cancer/testis antigen 92"""	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.356dupC	X.37:g.133700363_133700363dupG	ENSP00000352173:p.Gln119fs		Somatic				PLAC1_ENST00000476971.1_5'UTR	p.K119fs	NM_021796.3	NP_068568.1	WXS	Illumina GAIIx	Phase_I	Q9HBJ0	PLAC1_HUMAN			3	640_641	-	Acute lymphoblastic leukemia(192;0.000127)		119						Frame_Shift_Ins	INS	ENST00000359237.4	37	c.355_356insC	CCDS14642.1																																																																																				0.530	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796		8	477						8	477	---	---	---	---
PLAC1	10761	broad.mit.edu	37	X	133700524	133700525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:133700524_133700525insG	ENST00000359237.4	-	3	473_474	c.188_189insC	c.(187-189)ccafs	p.P63fs	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					GAACATGGTTTGGGGGGCAACC	0.51																																						ENST00000359237.4																			0				large_intestine(4)|lung(1)|pancreas(1)	6						c.(187-189)caafs		placenta-specific 1																																				SO:0001589	frameshift_variant	10761				placenta development	extracellular region		g.chrX:133700524_133700525insG	AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"""cancer/testis antigen 92"""	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.189dupC	X.37:g.133700530_133700530dupG	ENSP00000352173:p.Pro63fs		Somatic				PLAC1_ENST00000476971.1_5'UTR	p.Q63fs	NM_021796.3	NP_068568.1	WXS	Illumina GAIIx	Phase_I	Q9HBJ0	PLAC1_HUMAN			3	473_474	-	Acute lymphoblastic leukemia(192;0.000127)		63						Frame_Shift_Ins	INS	ENST00000359237.4	37	c.188_189insC	CCDS14642.1																																																																																				0.510	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796		9	665						9	665	---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:135314193_135314194insG	ENST00000316077.9	-	8	1142_1143	c.922_923insC	c.(922-924)cagfs	p.Q308fs	MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.Q290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.Q273fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGCA	0.535																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(922-924)ggtfs		MAP7 domain containing 3																																				SO:0001589	frameshift_variant	79649					cytoplasm|spindle		g.chrX:135314193_135314194insG	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.923dupC	X.37:g.135314200_135314200dupG	ENSP00000318086:p.Gln308fs		Somatic				MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.G273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.G290fs	p.G308fs	NM_024597.3	NP_078873.2	WXS	Illumina GAIIx	Phase_I	Q8IWC1	MA7D3_HUMAN			8	1142_1143	-	Acute lymphoblastic leukemia(192;0.000127)		308					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Frame_Shift_Ins	INS	ENST00000316077.9	37	c.922_923insC	CCDS44004.1																																																																																				0.535	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			51	928						51	928	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27057936	27057937	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:27057936_27057937insC	ENST00000324856.7	+	3	2015_2016	c.1644_1645insC	c.(1645-1647)cccfs	p.P549fs	ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.P166fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.P549fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	549					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Y551fs*72(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCAGAGCCAGCCCCCCTACTC	0.649			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	1	Insertion - Frameshift(1)	p.Y551fs*72(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(1642-1647)caccccfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27057936_27057937insC	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1650dupC	1.37:g.27057942_27057942dupC	ENSP00000320485:p.Pro549fs		Somatic				ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.HP548fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.HP165fs	p.HP548fs	NM_006015.4	NP_006006.3	WXS	Illumina GAIIx	Phase_I	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	3	2015_2016	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	548					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.1644_1645insC	CCDS285.1																																																																																				0.649	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		7	394						7	394	---	---	---	---
HIPK1	204851	broad.mit.edu	37	1	114514537	114514538	+	Frame_Shift_Ins	INS	-	-	G	rs377426569		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:114514537_114514538insG	ENST00000369558.1	+	15	3337_3338	c.3105_3106insG	c.(3106-3108)gggfs	p.G1036fs	HIPK1_ENST00000406344.1_Frame_Shift_Ins_p.G642fs|HIPK1_ENST00000369561.4_Frame_Shift_Ins_p.G1002fs|HIPK1_ENST00000369559.4_Frame_Shift_Ins_p.G1036fs|HIPK1_ENST00000369554.2_Frame_Shift_Ins_p.G991fs|HIPK1_ENST00000369553.1_Frame_Shift_Ins_p.G642fs|HIPK1_ENST00000426820.2_Frame_Shift_Ins_p.G1036fs|HIPK1_ENST00000369555.2_Frame_Shift_Ins_p.G991fs|HIPK1_ENST00000340480.4_Frame_Shift_Ins_p.G662fs			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1036	Interaction with TP53.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGCTCAACGCGGGGGGACCAG	0.525																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(3103-3108)cgggggfs		homeodomain interacting protein kinase 1																																				SO:0001589	frameshift_variant	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114514537_114514538insG	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.3111dupG	1.37:g.114514543_114514543dupG	ENSP00000358571:p.Gly1036fs		Somatic				HIPK1_ENST00000406344.1_Frame_Shift_Ins_p.RG641fs|HIPK1_ENST00000369559.4_Frame_Shift_Ins_p.RG1035fs|HIPK1_ENST00000426820.2_Frame_Shift_Ins_p.RG1035fs|HIPK1_ENST00000369553.1_Frame_Shift_Ins_p.RG641fs|HIPK1_ENST00000340480.4_Frame_Shift_Ins_p.RG661fs|HIPK1_ENST00000369554.2_Frame_Shift_Ins_p.RG990fs|HIPK1_ENST00000369555.2_Frame_Shift_Ins_p.RG990fs|HIPK1_ENST00000369561.4_Frame_Shift_Ins_p.RG1001fs	p.RG1035fs			WXS	Illumina GAIIx	Phase_I	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	3337_3338	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	1035			Interaction with TP53.		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Frame_Shift_Ins	INS	ENST00000369558.1	37	c.3105_3106insG	CCDS867.1																																																																																				0.525	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		8	236						8	236	---	---	---	---
SWT1	54823	broad.mit.edu	37	1	185171842	185171844	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:185171842_185171844delAAG	ENST00000367500.4	+	11	1745_1747	c.1580_1582delAAG	c.(1579-1584)aaagaa>aaa	p.E529del	SWT1_ENST00000367501.3_In_Frame_Del_p.E529del	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	529										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TCACTCAGTAAAGAAGAATTGAG	0.365																																						ENST00000367500.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(1579-1584)aaa>a		SWT1 RNA endoribonuclease homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	54823							g.chr1:185171842_185171844delAAG	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1580_1582delAAG	1.37:g.185171845_185171847delAAG	ENSP00000356470:p.Glu529del		Somatic				SWT1_ENST00000367501.3_In_Frame_Del_p.KE527del	p.KE527del	NM_017673.6	NP_060143.4	WXS	Illumina GAIIx	Phase_I	Q5T5J6	SWT1_HUMAN			11	1745_1747	+			527					Q8NEK9|Q9BZQ7|Q9NXQ0	In_Frame_Del	DEL	ENST00000367500.4	37	c.1580_1582delAAG	CCDS1367.1																																																																																				0.365	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		7	66						7	66	---	---	---	---
LOC400800	400800	broad.mit.edu	37	1	199130136	199130137	+	lincRNA	INS	-	-	G	rs369838564|rs200328152|rs142603788		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:199130136_199130137insG	ENST00000452199.1	+	0	140																											gaaggaaggaagaaggaaggaa	0.475																																						ENST00000452199.1																			0																																																			400800							g.chr1:199130136_199130137insG																													1.37:g.199130137_199130137dupG			Somatic								WXS	Illumina GAIIx	Phase_I					0	140	+									RNA	INS	ENST00000452199.1	37																																																																																						0.475	RP11-382E9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000087440.1			3	5						3	5	---	---	---	---
C1orf106	55765	broad.mit.edu	37	1	200880644	200880647	+	Frame_Shift_Del	DEL	CACT	CACT	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:200880644_200880647delCACT	ENST00000367342.4	+	9	1478_1481	c.1278_1281delCACT	c.(1276-1281)cccactfs	p.PT426fs	C1orf106_ENST00000413687.2_Frame_Shift_Del_p.PT341fs	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	426										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCCGCCGCCCCACTCACTACACGG	0.667																																						ENST00000367342.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1276-1281)ccfs		chromosome 1 open reading frame 106																																				SO:0001589	frameshift_variant	55765							g.chr1:200880644_200880647delCACT	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1278_1281delCACT	1.37:g.200880648_200880651delCACT	ENSP00000356311:p.Pro426fs		Somatic				C1orf106_ENST00000413687.2_Frame_Shift_Del_p.PT341fs	p.PT426fs	NM_018265.3	NP_060735.3	WXS	Illumina GAIIx	Phase_I	Q3KP66	CA106_HUMAN			9	1478_1481	+			426					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Frame_Shift_Del	DEL	ENST00000367342.4	37	c.1278_1281delCACT																																																																																					0.667	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		56	234						56	234	---	---	---	---
VHL	7428	broad.mit.edu	37	3	10191522	10191525	+	Frame_Shift_Del	DEL	CTGA	CTGA	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:10191522_10191525delCTGA	ENST00000256474.2	+	3	1355_1358	c.515_518delCTGA	c.(514-519)cctgagfs	p.PE172fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Frame_Shift_Del_p.PE131fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	172					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.P172fs*30(4)|p.P172fs*39(2)|p.N174fs*41(1)|p.E173_R176del(1)|p.V170fs*29(1)|p.E173*(1)|p.P172_E173del(1)|p.E173fs*>42(1)|p.E173fs*26(1)|p.K171fs*43(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CTAGTCAAGCCTGAGAATTACAGG	0.525		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"""D, Mis, N, F, S"""	von Hippel-Lindau syndrome gene			"""E, M, O"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""		14	Deletion - Frameshift(10)|Deletion - In frame(2)|Substitution - Nonsense(1)|Insertion - Frameshift(1)	p.P172fs*30(4)|p.P172fs*39(2)|p.N174fs*41(1)|p.E173_R176del(1)|p.V170fs*29(1)|p.E173*(1)|p.P172_E173del(1)|p.E173fs*>42(1)|p.E173fs*26(1)|p.K171fs*43(1)	kidney(14)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CD004318|CM982011	VHL	D|M		c.(514-519)cgfs		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10191522_10191525delCTGA	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.515_518delCTGA	3.37:g.10191522_10191525delCTGA	ENSP00000256474:p.Pro172fs		Somatic				VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Frame_Shift_Del_p.PE131fs	p.PE172fs	NM_000551.3	NP_000542.1	WXS	Illumina GAIIx	Phase_I	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	3	1355_1358	+			172					B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	c.515_518delCTGA	CCDS2597.1																																																																																				0.525	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		20	78						20	78	---	---	---	---
SETD2	29072	broad.mit.edu	37	3	47125805	47125805	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:47125805delG	ENST00000409792.3	-	12	5507	c.5465delC	c.(5464-5466)ccafs	p.P1822fs	SETD2_ENST00000492397.1_5'Flank	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1822					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTGAATAATTGGAAGTACTTT	0.383			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(5464-5466)cafs		SET domain containing 2							76.0	70.0	72.0					3																	47125805		2203	4300	6503	SO:0001589	frameshift_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47125805delG	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5465delC	3.37:g.47125805delG	ENSP00000386759:p.Pro1822fs		Somatic					p.P1822fs	NM_014159.6	NP_054878.5	WXS	Illumina GAIIx	Phase_I	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	12	5507	-		Acute lymphoblastic leukemia(5;0.0169)	1822					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	37	c.5465delC	CCDS2749.2																																																																																				0.383	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		18	87						18	87	---	---	---	---
APEH	327	broad.mit.edu	37	3	49723322	49723327	+	IGR	DEL	GCGCTG	GCGCTG	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:49723322_49723327delGCGCTG	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_In_Frame_Del_p.QR406del|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGGACCAGCGCTGGCACTGGACA	0.704																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1216-1221)del		macrophage stimulating 1 (hepatocyte growth factor-like)																																				SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723322_49723327delGCGCTG	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723322_49723327delGCGCTG			Somatic				MST1_ENST00000383728.3_3'UTR	p.QR406del	NM_020998.3	NP_066278.3	WXS	Illumina GAIIx	Phase_I	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	1577_1582	-			392			Kringle 4.		Q9BQ33|Q9P0Y2	In_Frame_Del	DEL	ENST00000296456.5	37	c.1216_1221delCAGCGC	CCDS2801.1																																																																																				0.704	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			9	70						9	70	---	---	---	---
BAP1	8314	broad.mit.edu	37	3	52436801	52436803	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:52436801_52436803delCTT	ENST00000460680.1	-	15	2446_2448	c.1975_1977delAAG	c.(1975-1977)aagdel	p.K659del	BAP1_ENST00000296288.5_In_Frame_Del_p.K641del	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCACCTTGAACTTCTTCCTCTTC	0.552			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1				Rec	yes		3	3p21.31-p21.2	8314	"""N, Mis, F, S, O"""	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)			E		"""mesothelioma, uveal melanoma"""	"""uveal melanoma, breast, NSCLC, RCC"""		0				NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1975-1977)del		BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																				SO:0001651	inframe_deletion	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52436801_52436803delCTT	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1975_1977delAAG	3.37:g.52436804_52436806delCTT	ENSP00000417132:p.Lys659del		Somatic				BAP1_ENST00000296288.5_In_Frame_Del_p.K641del	p.K659del	NM_004656.2	NP_004647.1	WXS	Illumina GAIIx	Phase_I	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	15	2446_2448	-			659			Interaction with BRCA1.		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	In_Frame_Del	DEL	ENST00000460680.1	37	c.1975_1977delAAG	CCDS2853.1																																																																																				0.552	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			43	124						43	124	---	---	---	---
FIP1L1	81608	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-	rs143671659		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)agafs	p.R483fs	FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.47			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		2	Deletion - Frameshift(2)	p.R487fs*3(2)	large_intestine(1)|kidney(1)	large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(1447-1449)afs		factor interacting with PAPOLA and CPSF1																																				SO:0001589	frameshift_variant	81608				mRNA processing	nucleus	RNA binding	g.chr4:54319248_54319249delAG	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1447_1448delAG	4.37:g.54319258_54319259delAG	ENSP00000336752:p.Arg483fs		Somatic				FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs	p.R483fs	NM_030917.3	NP_112179.2	WXS	Illumina GAIIx	Phase_I	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		16	1641_1642	+			483			Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Del	DEL	ENST00000337488.6	37	c.1447_1448delAG	CCDS3491.1																																																																																				0.470	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		7	192						7	192	---	---	---	---
GAB1	2549	broad.mit.edu	37	4	144381536	144381537	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr4:144381536_144381537insC	ENST00000262994.4	+	8	2001_2002	c.1699_1700insC	c.(1699-1701)tccfs	p.S567fs	GAB1_ENST00000262995.4_Frame_Shift_Ins_p.S597fs|GAB1_ENST00000505913.1_Frame_Shift_Ins_p.S464fs	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	567					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GTTTCCCATGTCCCCCCGACCA	0.406																																						ENST00000262995.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1789-1791)cccfs		GRB2-associated binding protein 1																																				SO:0001589	frameshift_variant	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144381536_144381537insC	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1705dupC	4.37:g.144381542_144381542dupC	ENSP00000262994:p.Ser567fs		Somatic				GAB1_ENST00000262994.4_Frame_Shift_Ins_p.P567fs|GAB1_ENST00000505913.1_Frame_Shift_Ins_p.P464fs	p.P597fs	NM_207123.2	NP_997006.1	WXS	Illumina GAIIx	Phase_I	Q13480	GAB1_HUMAN			9	2216_2217	+	all_hematologic(180;0.158)		567					A8K152|Q4W5G2|Q6P1W2	Frame_Shift_Ins	INS	ENST00000262994.4	37	c.1789_1790insC	CCDS3759.1																																																																																				0.406	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039		11	242						11	242	---	---	---	---
CDH6	1004	broad.mit.edu	37	5	31305299	31305302	+	Frame_Shift_Del	DEL	AAGA	AAGA	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr5:31305299_31305302delAAGA	ENST00000265071.2	+	7	1283_1286	c.1018_1021delAAGA	c.(1018-1023)aagaaafs	p.KK340fs	CDH6_ENST00000514738.1_Frame_Shift_Del_p.KK285fs	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	340	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTTTGAAAAGAAGAAAGTGTATAC	0.441																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1018-1023)aafs		cadherin 6, type 2, K-cadherin (fetal kidney)																																				SO:0001589	frameshift_variant	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31305299_31305302delAAGA	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1018_1021delAAGA	5.37:g.31305299_31305302delAAGA	ENSP00000265071:p.Lys340fs		Somatic				CDH6_ENST00000514738.1_Frame_Shift_Del_p.KK285fs	p.KK340fs	NM_004932.3	NP_004923.1	WXS	Illumina GAIIx	Phase_I	P55285	CADH6_HUMAN			7	1283_1286	+			340			Cadherin 3.		A8K5H5|Q9BWS0	Frame_Shift_Del	DEL	ENST00000265071.2	37	c.1018_1021delAAGA	CCDS3894.1																																																																																				0.441	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		25	167						25	167	---	---	---	---
SYCP2L	221711	broad.mit.edu	37	6	10955449	10955449	+	Splice_Site	DEL	A	A	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr6:10955449delA	ENST00000283141.6	+	24	2351	c.2055delA	c.(2053-2055)cca>cc	p.P685fs		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	685						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GAGAGTTGCCAGGTAACATCA	0.433											OREG0017189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000283141.6																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.e24+1		synaptonemal complex protein 2-like							111.0	111.0	111.0					6																	10955449		1940	4138	6078	SO:0001630	splice_region_variant	221711					nucleus		g.chr6:10955449delA	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.2056+1A>-	6.37:g.10955449delA			Somatic	OREG0017189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	668		p.P685_splice	NM_001040274.2	NP_001035364.2	WXS	Illumina GAIIx	Phase_I	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		24	2351	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	685					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Splice_Site	DEL	ENST00000283141.6	37	c.2056_splice	CCDS43423.1																																																																																				0.433	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299	Frame_Shift_Del	54	198						54	198	---	---	---	---
KIAA0319	9856	broad.mit.edu	37	6	24601319	24601320	+	Frame_Shift_Ins	INS	-	-	G	rs376133611		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr6:24601319_24601320insG	ENST00000378214.3	-	2	536_537	c.12_13insC	c.(10-15)cccacafs	p.T5fs	KIAA0319_ENST00000430948.2_Intron|KIAA0319_ENST00000543707.1_Frame_Shift_Ins_p.T5fs|KIAA0319_ENST00000535378.1_5'UTR|KIAA0319_ENST00000537886.1_Frame_Shift_Ins_p.T5fs	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	5					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGCACACCTGTGGGGGGCGCCA	0.525																																						ENST00000378214.3																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(10-15)cccaggfs		KIAA0319																																				SO:0001589	frameshift_variant	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24601319_24601320insG	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.13dupC	6.37:g.24601325_24601325dupG	ENSP00000367459:p.Thr5fs		Somatic				KIAA0319_ENST00000430948.2_Intron|KIAA0319_ENST00000537886.1_Frame_Shift_Ins_p.R5fs|KIAA0319_ENST00000543707.1_Frame_Shift_Ins_p.R5fs|KIAA0319_ENST00000535378.1_5'UTR	p.R5fs	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	WXS	Illumina GAIIx	Phase_I	Q5VV43	K0319_HUMAN			2	536_537	-			5					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Frame_Shift_Ins	INS	ENST00000378214.3	37	c.12_13insC	CCDS34348.1																																																																																				0.525	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		7	704						7	704	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43323600	43323601	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr6:43323600_43323601insC	ENST00000361428.2	-	4	1548_1549	c.1471_1472insG	c.(1471-1473)acafs	p.T491fs	ZNF318_ENST00000318149.3_Frame_Shift_Ins_p.T491fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	491					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CAGGAAGTCTGTGTGTCGCTCA	0.475																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(1471-1473)agafs		zinc finger protein 318																																				SO:0001589	frameshift_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323600_43323601insC	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1471_1472insG	6.37:g.43323600_43323601insC	ENSP00000354964:p.Thr491fs		Somatic				ZNF318_ENST00000318149.3_Frame_Shift_Ins_p.R491fs	p.R491fs	NM_014345.2	NP_055160.2	WXS	Illumina GAIIx	Phase_I	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	1548_1549	-			491					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Ins	INS	ENST00000361428.2	37	c.1471_1472insG	CCDS4895.2																																																																																				0.475	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		59	1259						59	1259	---	---	---	---
TFB1M	51106	broad.mit.edu	37	6	155635515	155635515	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr6:155635515delG	ENST00000367166.4	-	1	103	c.48delC	c.(46-48)cccfs	p.P16fs	TFB1M_ENST00000480390.1_5'UTR	NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	16					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		CTCGAATCGTGGGCAACGGAG	0.547																																						ENST00000367166.4																			0				lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(46-48)ccfs		transcription factor B1, mitochondrial							118.0	102.0	108.0					6																	155635515		2203	4300	6503	SO:0001589	frameshift_variant	51106				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr6:155635515delG	AF151833	CCDS5248.1	6q25.1-q25.3	2011-01-28			ENSG00000029639	ENSG00000029639			17037	protein-coding gene	gene with protein product	"""dimethyladenosine transferase 1, mitochondrial"""	607033				10810093, 11809803	Standard	NM_016020		Approved	mtTFB, CGI-75	uc003qqj.4	Q8WVM0	OTTHUMG00000015881	ENST00000367166.4:c.48delC	6.37:g.155635515delG	ENSP00000356134:p.Pro16fs		Somatic				TFB1M_ENST00000480390.1_5'UTR	p.P16fs	NM_016020.3	NP_057104.2	WXS	Illumina GAIIx	Phase_I	Q8WVM0	TFB1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)	1	103	-		Ovarian(120;0.196)	16					Q05DR0|Q9Y384	Frame_Shift_Del	DEL	ENST00000367166.4	37	c.48delC	CCDS5248.1																																																																																				0.547	TFB1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042809.1			28	162						28	162	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139151231	139151232	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:139151231_139151232insT	ENST00000395297.1	-	18	4068_4069	c.3898_3899insA	c.(3898-3900)acafs	p.T1300fs		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1300								p.T1300R(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCACTGACCTGTTTTTTGGCTT	0.446										HNSCC(54;0.14)																												ENST00000395297.1																			2	Substitution - Missense(2)	p.T1300R(2)	lung(2)	NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(3898-3900)aggfs		family with sequence similarity 135, member B																																				SO:0001589	frameshift_variant	51059							g.chr8:139151231_139151232insT	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3899dupA	8.37:g.139151237_139151237dupT	ENSP00000378710:p.Thr1300fs	HNSCC(54;0.14)	Somatic					p.R1300fs	NM_015912.3	NP_056996.2	WXS	Illumina GAIIx	Phase_I	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		18	4068_4069	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1300					B5MDB3|O95879|Q2WGJ7|Q3KP46	Frame_Shift_Ins	INS	ENST00000395297.1	37	c.3898_3899insA	CCDS6375.2																																																																																				0.446	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		7	332						7	332	---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137717708	137717709	+	Frame_Shift_Ins	INS	-	-	G	rs560774273|rs368448060		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr9:137717708_137717709insG	ENST00000371817.3	+	63	5439_5440	c.5025_5026insG	c.(5026-5028)gggfs	p.G1676fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1676	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.G1676W(1)|p.A1675A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACTTCACAGCCGGGGGGTCGAC	0.594																																						ENST00000371817.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.G1676W(1)|p.A1675A(1)	lung(2)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(5023-5028)gcggggfs		collagen, type V, alpha 1																																				SO:0001589	frameshift_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137717708_137717709insG	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5031dupG	9.37:g.137717714_137717714dupG	ENSP00000360882:p.Gly1676fs		Somatic					p.AG1675fs	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	WXS	Illumina GAIIx	Phase_I	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	63	5439_5440	+		Myeloproliferative disorder(178;0.0341)	1675			Fibrillar collagen NC1.		Q15094|Q5SUX4	Frame_Shift_Ins	INS	ENST00000371817.3	37	c.5025_5026insG	CCDS6982.1																																																																																				0.594	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		7	371						7	371	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89692949	89692949	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr10:89692949delT	ENST00000371953.3	+	5	1790	c.433delT	c.(433-435)tttfs	p.F145fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	145	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.F145I(1)|p.A121_F145del(1)|p.F145_L146del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCGGGGCAAATTTTTAAAGGC	0.388		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		53	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Deletion - In frame(2)|Substitution - Missense(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.F145I(1)|p.A121_F145del(1)|p.F145_L146del(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|endometrium(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(433-435)ttfs		phosphatase and tensin homolog							79.0	79.0	79.0					10																	89692949		2203	4300	6503	SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692949delT	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.433delT	10.37:g.89692949delT	ENSP00000361021:p.Phe145fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic					p.F145fs	NM_000314.4	NP_000305.3	WXS	Illumina GAIIx	Phase_I	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1790	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	145			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.433delT	CCDS31238.1																																																																																				0.388	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		55	191						55	191	---	---	---	---
USMG5	84833	broad.mit.edu	37	10	105151997	105151997	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr10:105151997delT	ENST00000369825.1	-	4	613	c.131delA	c.(130-132)tatfs	p.Y44fs	USMG5_ENST00000337003.4_Frame_Shift_Del_p.Y44fs|MIR1307_ENST00000408840.1_RNA|USMG5_ENST00000369811.1_Frame_Shift_Del_p.Y44fs|USMG5_ENST00000369815.1_Frame_Shift_Del_p.Y44fs|USMG5_ENST00000309579.3_Frame_Shift_Del_p.Y44fs			Q96IX5	USMG5_HUMAN	up-regulated during skeletal muscle growth 5 homolog (mouse)	44						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)				breast(1)	1		Colorectal(252;0.142)		Epithelial(162;3.94e-09)|all cancers(201;2.76e-08)|BRCA - Breast invasive adenocarcinoma(275;0.197)		TAACTTGAAATATAAGACAAT	0.308																																						ENST00000369825.1																			0				breast(1)	1						c.(130-132)ttfs		up-regulated during skeletal muscle growth 5 homolog (mouse)							111.0	107.0	108.0					10																	105151997		2203	4299	6502	SO:0001589	frameshift_variant	84833					integral to membrane		g.chr10:105151997delT	BC007087	CCDS7548.1	10q24.33	2011-04-13	2008-06-05		ENSG00000173915	ENSG00000173915			30889	protein-coding gene	gene with protein product		615204	"""upregulated during skeletal muscle growth 5"", ""upregulated during skeletal muscle growth 5 homolog (mouse)"""			12477932	Standard	NM_032747		Approved	MGC14697, bA792D24.4, DAPIT	uc001kwx.2	Q96IX5	OTTHUMG00000018984	ENST00000369825.1:c.131delA	10.37:g.105151997delT	ENSP00000358840:p.Tyr44fs		Somatic				USMG5_ENST00000309579.3_Frame_Shift_Del_p.Y44fs|USMG5_ENST00000369815.1_Frame_Shift_Del_p.Y44fs|USMG5_ENST00000337003.4_Frame_Shift_Del_p.Y44fs|USMG5_ENST00000369811.1_Frame_Shift_Del_p.Y44fs	p.Y44fs			WXS	Illumina GAIIx	Phase_I	Q96IX5	USMG5_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.76e-08)|BRCA - Breast invasive adenocarcinoma(275;0.197)	4	613	-		Colorectal(252;0.142)	44					B2R4N2|D3DR92	Frame_Shift_Del	DEL	ENST00000369825.1	37	c.131delA	CCDS7548.1																																																																																				0.308	USMG5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050142.1	NM_032747		23	71						23	71	---	---	---	---
E2F8	79733	broad.mit.edu	37	11	19247356	19247357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr11:19247356_19247357insC	ENST00000527884.1	-	11	2180_2181	c.1948_1949insG	c.(1948-1950)gcafs	p.A650fs	E2F8_ENST00000529188.1_5'UTR|RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Frame_Shift_Ins_p.A650fs	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	650					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AATGGACTCTGCCCCCAGGGAT	0.45																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1948-1950)agafs		E2F transcription factor 8																																				SO:0001589	frameshift_variant	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19247356_19247357insC		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1949dupG	11.37:g.19247361_19247361dupC	ENSP00000434199:p.Ala650fs		Somatic				E2F8_ENST00000529188.1_5'UTR|RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Frame_Shift_Ins_p.R650fs	p.R650fs	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	WXS	Illumina GAIIx	Phase_I	A0AVK6	E2F8_HUMAN			11	2180_2181	-			650					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Frame_Shift_Ins	INS	ENST00000527884.1	37	c.1948_1949insG	CCDS7849.1																																																																																				0.450	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		7	1011						7	1011	---	---	---	---
C11orf88	399949	broad.mit.edu	37	11	111385565	111385566	+	Frame_Shift_Ins	INS	-	-	C	rs570525399	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr11:111385565_111385566insC	ENST00000375618.4	+	1	56_57	c.56_57insC	c.(55-60)tgccccfs	p.CP19fs	BTG4_ENST00000525791.1_5'Flank|MIR34B_ENST00000385076.1_RNA|C11orf88_ENST00000332814.6_Frame_Shift_Ins_p.CP19fs|BTG4_ENST00000356018.2_5'Flank|MIR34C_ENST00000384831.1_RNA|C11orf88_ENST00000529167.1_Frame_Shift_Ins_p.CP19fs|RP11-794P6.6_ENST00000530283.1_RNA	NM_001100388.1	NP_001093858.1	Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	19										endometrium(1)|large_intestine(3)|lung(2)	6						CAGGAAATGTGCCCCCCGGGAT	0.584											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CCCCCC|CCCCCC|CCCCCCC|insertion	3	0.000599042	0.0023	0.0	5008	,	,		12204	0.0		0.0	False		,,,				2504	0.0					ENST00000529167.1																			0				endometrium(1)|large_intestine(3)|lung(2)	6						c.(55-57)tccfs		chromosome 11 open reading frame 88			,	2,3658		0,2,1828					,	-2.8	0.0			59	1,7885		0,1,3942	no	frameshift,frameshift	C11orf88	NM_207430.2,NM_001100388.1	,	0,3,5770	A1A1,A1R,RR		0.0127,0.0546,0.026	,	,		3,11543				SO:0001589	frameshift_variant	399949							g.chr11:111385565_111385566insC	BC039505, AK128145	CCDS41712.1, CCDS41713.1	11q23.1	2012-08-10			ENSG00000183644	ENSG00000183644			25061	protein-coding gene	gene with protein product	"""hypothetical gene supported by BC039505"""					12477932	Standard	NM_001100388		Approved	FLJ46266	uc009yyd.3	Q6PI97	OTTHUMG00000166720	ENST00000375618.4:c.62dupC	11.37:g.111385571_111385571dupC	ENSP00000364768:p.Cys19fs		Somatic	OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1434	C11orf88_ENST00000375618.4_Frame_Shift_Ins_p.S19fs|RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000332814.6_Frame_Shift_Ins_p.S19fs	p.S19fs			WXS	Illumina GAIIx	Phase_I	Q6PI97	CK088_HUMAN			1	56_57	+			19					E9PAN0|Q6ZRL3	Frame_Shift_Ins	INS	ENST00000375618.4	37	c.56_57insC	CCDS41713.1																																																																																				0.584	C11orf88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391181.1	NM_001100388		7	91						7	91	---	---	---	---
OR10G7	390265	broad.mit.edu	37	11	123909635	123909636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr11:123909635_123909636insG	ENST00000330487.5	-	1	81_82	c.73_74insC	c.(73-75)ctcfs	p.L25fs		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	25						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(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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;0.0521)		GATTCCAAAGAGGGGGGCGTCC	0.569																																						ENST00000330487.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(73-75)cttfs		olfactory receptor, family 10, subfamily G, member 7																																				SO:0001589	frameshift_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909635_123909636insG	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.74dupC	11.37:g.123909641_123909641dupG	ENSP00000329689:p.Leu25fs		Somatic					p.L25fs	NM_001004463.1	NP_001004463.1	WXS	Illumina GAIIx	Phase_I	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	81_82	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	25					Q6IFE8	Frame_Shift_Ins	INS	ENST00000330487.5	37	c.73_74insC	CCDS31705.1																																																																																				0.569	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		7	634						7	634	---	---	---	---
PKNOX2	63876	broad.mit.edu	37	11	125267910	125267911	+	Frame_Shift_Ins	INS	-	-	G	rs201952114		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr11:125267910_125267911insG	ENST00000298282.9	+	7	811_812	c.540_541insG	c.(541-543)gggfs	p.G181fs	PKNOX2_ENST00000542175.1_Frame_Shift_Ins_p.G117fs|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	181					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GGAATGATCTAGGGGGGCCCTA	0.535																																						ENST00000298282.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(538-543)ctggggfs		PBX/knotted 1 homeobox 2																																				SO:0001589	frameshift_variant	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125267910_125267911insG	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.546dupG	11.37:g.125267916_125267916dupG	ENSP00000298282:p.Gly181fs		Somatic				PKNOX2_ENST00000542175.1_Frame_Shift_Ins_p.LG116fs|PKNOX2_ENST00000530517.1_3'UTR	p.LG180fs	NM_022062.2	NP_071345.2	WXS	Illumina GAIIx	Phase_I	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	7	811_812	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	180					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Frame_Shift_Ins	INS	ENST00000298282.9	37	c.540_541insG	CCDS41730.1																																																																																				0.535	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			8	279						8	279	---	---	---	---
NEDD1	121441	broad.mit.edu	37	12	97311397	97311404	+	Splice_Site	DEL	AGCAAAAG	AGCAAAAG	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr12:97311397_97311404delAGCAAAAG	ENST00000266742.4	+	5	570_576	c.231_237delAGCAAAAG	c.(229-237)ggagcaaaa>gg	p.GAK77fs	NEDD1_ENST00000411739.2_5'UTR|NEDD1_ENST00000429527.2_Splice_Site_p.GAK77fs|NEDD1_ENST00000457368.2_5'UTR|NEDD1_ENST00000555114.1_Intron|NEDD1_ENST00000557644.1_Splice_Site_p.GAK84fs	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	77					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						ttttttaaataGCAAAAGCAGACATGTG	0.303																																						ENST00000266742.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						c.e5-1		neural precursor cell expressed, developmentally down-regulated 1																																				SO:0001630	splice_region_variant	121441				cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		g.chr12:97311397_97311404delAGCAAAAG		CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.232-1AGCAAAAG>-	12.37:g.97311397_97311404delAGCAAAAG			Somatic				NEDD1_ENST00000411739.2_5'UTR|NEDD1_ENST00000429527.2_Splice_Site_p.77_splice|NEDD1_ENST00000555114.1_Intron|NEDD1_ENST00000457368.2_5'UTR|NEDD1_ENST00000557644.1_Splice_Site_p.84_splice	p.77_splice	NM_152905.3	NP_690869.1	WXS	Illumina GAIIx	Phase_I	Q8NHV4	NEDD1_HUMAN			5	570_576	+			77					B0AZN0|B4E145|G3V3F1|Q8NA30	Splice_Site	DEL	ENST00000266742.4	37	c.231_splice	CCDS9063.1																																																																																				0.303	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1		Frame_Shift_Del	13	101						13	101	---	---	---	---
LEO1	123169	broad.mit.edu	37	15	52246708	52246708	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr15:52246708delT	ENST00000299601.5	-	7	1370	c.1310delA	c.(1309-1311)aatfs	p.N437fs	LEO1_ENST00000315141.5_Intron	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	437					endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TATCCGAGCATTGCTTTCTTT	0.393																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)	ENST00000299601.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(1309-1311)atfs		Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							238.0	202.0	214.0					15																	52246708		2195	4292	6487	SO:0001589	frameshift_variant	123169				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr15:52246708delT	AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.1310delA	15.37:g.52246708delT	ENSP00000299601:p.Asn437fs		Somatic				LEO1_ENST00000315141.5_Intron	p.N437fs	NM_138792.2	NP_620147.1	WXS	Illumina GAIIx	Phase_I	Q8WVC0	LEO1_HUMAN		all cancers(107;0.00264)	7	1370	-			437					Q96N99	Frame_Shift_Del	DEL	ENST00000299601.5	37	c.1310delA	CCDS10146.1																																																																																				0.393	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2	NM_138792		85	318						85	318	---	---	---	---
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-	rs370680044		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr15:65918177_65918179delCTG	ENST00000261892.6	+	2	2046_2048	c.1759_1761delCTG	c.(1759-1761)ctgdel	p.L591del	SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	591					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGGAGAGCCTGCTGCTGCTGC	0.547																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1759-1761)del		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1				99,3943		8,83,1930						4.1	1.0			151	234,7914		7,220,3847	no	coding	SLC24A1	NM_004727.2		15,303,5777	A1A1,A1R,RR		2.8719,2.4493,2.7317				333,11857				SO:0001651	inframe_deletion	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65918177_65918179delCTG	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1759_1761delCTG	15.37:g.65918186_65918188delCTG	ENSP00000261892:p.Leu591del		Somatic				SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del	p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	WXS	Illumina GAIIx	Phase_I	O60721	NCKX1_HUMAN			2	2046_2048	+			591					O43485|O75184|Q17RM9	In_Frame_Del	DEL	ENST00000261892.6	37	c.1759_1761delCTG	CCDS45284.1																																																																																				0.547	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		7	202						7	202	---	---	---	---
ZSCAN2	54993	broad.mit.edu	37	15	85164518	85164519	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr15:85164518_85164519insA	ENST00000448803.2	+	3	1384_1385	c.1092_1093insA	c.(1093-1095)aaafs	p.K365fs	ZSCAN2_ENST00000358472.3_Frame_Shift_Ins_p.K215fs|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000327179.6_Frame_Shift_Ins_p.K364fs|ZSCAN2_ENST00000546148.1_Frame_Shift_Ins_p.K365fs	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	365					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|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)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCTACGAATGTAAAGAATGCGG	0.495																																						ENST00000448803.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19						c.(1090-1095)tgaagafs		zinc finger and SCAN domain containing 2																																				SO:0001589	frameshift_variant	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85164518_85164519insA	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1095dupA	15.37:g.85164521_85164521dupA	ENSP00000410198:p.Lys365fs		Somatic				ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000358472.3_Frame_Shift_Ins_p.R215fs|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000327179.6_Frame_Shift_Ins_p.R364fs|ZSCAN2_ENST00000546148.1_Frame_Shift_Ins_p.R365fs	p.R365fs	NM_181877.3	NP_870992.2	WXS	Illumina GAIIx	Phase_I	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	3	1384_1385	+			365					A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Frame_Shift_Ins	INS	ENST00000448803.2	37	c.1092_1093insA	CCDS10329.2																																																																																				0.495	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		45	392						45	392	---	---	---	---
RP11-812E19.7	0	broad.mit.edu	37	16	33661285	33661286	+	lincRNA	INS	-	-	C	rs554546933		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr16:33661285_33661286insC	ENST00000563019.1	-	0	45_46																											GGTTCTGTGCGCCCCCCGCAGC	0.525																																						ENST00000563019.1																			0																																																			0							g.chr16:33661285_33661286insC																													16.37:g.33661291_33661291dupC			Somatic								WXS	Illumina GAIIx	Phase_I					0	45_46	-									RNA	INS	ENST00000563019.1	37																																																																																						0.525	RP11-812E19.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000431819.1			7	68						7	68	---	---	---	---
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-	rs148510452|rs556262610	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr17:38978766_38978768delTCC	ENST00000269576.5	-	1	79_81	c.70_72delGGA	c.(70-72)ggadel	p.G24del	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	24	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544). {ECO:0000305}.	cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.547																																						ENST00000269576.5																			0				NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11						c.(70-72)del		keratin 10			,,,	689,7,3556		198,0,293,0,7,1628					,,,	3.0	0.1		dbSNP_134	51	1494,8,6750		368,0,758,0,8,2992	no	intron,intron,intron,codingComplex	KRT10,TMEM99	NM_145274.3,NM_001195387.1,NM_001195386.1,NM_000421.3	,,,	566,0,1051,0,15,4620	A1A1,A1A2,A1R,A2A2,A2R,RR		18.2016,16.3688,17.5784	,,,	,,,		2183,15,10306				SO:0001651	inframe_deletion	3858				epidermis development		protein binding|structural constituent of epidermis	g.chr17:38978766_38978768delTCC	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.70_72delGGA	17.37:g.38978775_38978777delTCC	ENSP00000269576:p.Gly24del		Somatic				TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	p.G24del	NM_000421.3	NP_000412.3	WXS	Illumina GAIIx	Phase_I	P13645	K1C10_HUMAN			1	79_81	-		Breast(137;0.000301)	24	Missing (in Ref. 1; AAA60544).		Gly-rich.|Head.		Q14664|Q8N175	In_Frame_Del	DEL	ENST00000269576.5	37	c.70_72delGGA	CCDS11377.1																																																																																				0.547	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		7	76						7	76	---	---	---	---
ZNF271	10778	broad.mit.edu	37	18	32887167	32887171	+	RNA	DEL	TATGC	TATGC	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr18:32887167_32887171delTATGC	ENST00000399070.3	+	0	1561_1565					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						AGAGAAACCATATGCATGTAATCAG	0.385																																						ENST00000399070.3																			0				large_intestine(3)|lung(9)	12																																														10778							g.chr18:32887167_32887171delTATGC	X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32887167_32887171delTATGC			Somatic						NR_024565.1|NR_024566.1		WXS	Illumina GAIIx	Phase_I					0	1561_1565	+								B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	DEL	ENST00000399070.3	37																																																																																						0.385	ZNF271-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255767.2	NR_024565		15	174						15	174	---	---	---	---
ZNF347	84671	broad.mit.edu	37	19	53645671	53645671	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr19:53645671delT	ENST00000334197.7	-	5	478	c.410delA	c.(409-411)aatfs	p.N137fs	ZNF347_ENST00000601469.2_Frame_Shift_Del_p.N138fs|ZNF347_ENST00000452676.2_Frame_Shift_Del_p.N138fs|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GCCATGTGTATTTTTCTGGAC	0.413																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(412-414)atfs		zinc finger protein 347							144.0	125.0	132.0					19																	53645671		2203	4300	6503	SO:0001589	frameshift_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53645671delT	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.410delA	19.37:g.53645671delT	ENSP00000334146:p.Asn137fs		Somatic				ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Frame_Shift_Del_p.N138fs|ZNF347_ENST00000334197.7_Frame_Shift_Del_p.N137fs	p.N138fs	NM_001172674.1	NP_001166145.1	WXS	Illumina GAIIx	Phase_I	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	839	-			137					B3KU77|B9EG59|G5E9N4|Q8TCN1	Frame_Shift_Del	DEL	ENST00000334197.7	37	c.413delA	CCDS33097.1																																																																																				0.413	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		116	946						116	946	---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G	rs535504707		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)cctfs	p.P552fs	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000371518.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	552					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1654-1656)ccafs		ZFP64 zinc finger protein			,,,	11,4249		0,11,2119					,,,	-3.3	0.0			34	3,8249		0,3,4123	no	intron,frameshift,frameshift,frameshift	ZFP64	NM_199427.2,NM_199426.1,NM_022088.4,NM_018197.2	,,,	0,14,6242	A1A1,A1R,RR		0.0364,0.2582,0.1119	,,,	,,,		14,12498				SO:0001589	frameshift_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769075_50769076insG	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1656dupC	20.37:g.50769082_50769082dupG	ENSP00000216923:p.Pro552fs		Somatic				ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000371518.2_Intron	p.P552fs	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	WXS	Illumina GAIIx	Phase_I	Q9NPA5	ZF64A_HUMAN			6	2004_2005	-			552					Q9NTS7|Q9NVH4	Frame_Shift_Ins	INS	ENST00000216923.4	37	c.1655_1656insC	CCDS13440.1																																																																																				0.673	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		11	158						11	158	---	---	---	---
TMPRSS3	64699	broad.mit.edu	37	21	43804123	43804130	+	Splice_Site	DEL	CTAAAGCG	CTAAAGCG	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr21:43804123_43804130delCTAAAGCG	ENST00000291532.3	-	7	1528		c.e7-1		TMPRSS3_ENST00000398397.3_Splice_Site|TMPRSS3_ENST00000380399.1_Splice_Site|TMPRSS3_ENST00000398405.1_Splice_Site|TMPRSS3_ENST00000474596.1_Splice_Site|TMPRSS3_ENST00000433957.2_Splice_Site	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3						cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						ACATCCCTCCCTAAAGCGGAGAAAAAGT	0.471																																						ENST00000291532.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						c.e7-1		transmembrane protease, serine 3																																				SO:0001630	splice_region_variant	64699				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	g.chr21:43804123_43804130delCTAAAGCG	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.573-1CGCTTTAG>-	21.37:g.43804123_43804130delCTAAAGCG			Somatic				TMPRSS3_ENST00000380399.1_Splice_Site|TMPRSS3_ENST00000398397.3_Splice_Site|TMPRSS3_ENST00000474596.1_Splice_Site|TMPRSS3_ENST00000398405.1_Splice_Site|TMPRSS3_ENST00000433957.2_Splice_Site		NM_032404.2	NP_115780.1	WXS	Illumina GAIIx	Phase_I	P57727	TMPS3_HUMAN			7	1528	-								D3DSJ6|Q5USC7|Q6ZMC3	Splice_Site	DEL	ENST00000291532.3	37		CCDS13686.1																																																																																				0.471	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1		Intron	8	25						8	25	---	---	---	---
IGLV3-16	28799	broad.mit.edu	37	22	23090202	23090202	+	RNA	DEL	A	A	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr22:23090202delA	ENST00000390311.2	+	0	179									immunoglobulin lambda variable 3-16																		AAGCATTGCCAAAAAAATATG	0.537																																						ENST00000390311.2																			0																				84.0	88.0	87.0					22																	23090202		1897	4139	6036			28799							g.chr22:23090202delA	X97471		22q11.2	2012-02-08			ENSG00000211665	ENSG00000211665		"""Immunoglobulins / IGL locus"""	5901	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151231		22.37:g.23090202delA			Somatic								WXS	Illumina GAIIx	Phase_I					0	179	+									RNA	DEL	ENST00000390311.2	37																																																																																						0.537	IGLV3-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321835.1	NG_000002		7	375						7	375	---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000338154.6_In_Frame_Del_p.E795del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|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)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del		Somatic				PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del	p.E795del	NM_015107.2	NP_055922.1	WXS	Illumina GAIIx	Phase_I	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		7	942						7	942	---	---	---	---
