#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PTPRR	5801	broad.mit.edu	37	12	71139698	71139698	+	Missense_Mutation	SNP	C	C	T	rs370625173		TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr12:71139698C>T	ENST00000283228.2	-	6	1359	c.907G>A	c.(907-909)Gtg>Atg	p.V303M	PTPRR_ENST00000378778.1_Missense_Mutation_p.V97M|PTPRR_ENST00000440835.2_Missense_Mutation_p.V58M|PTPRR_ENST00000342084.4_Missense_Mutation_p.V191M|PTPRR_ENST00000549308.1_Missense_Mutation_p.V58M	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	303					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TGAGGGTCCACGACAACATTC	0.537																																						ENST00000283228.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(907-909)Gtg>Atg		protein tyrosine phosphatase, receptor type, R		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	192.0	142.0	159.0		571,289,907,172	4.3	0.7	12		159	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	PTPRR	NM_001207015.1,NM_001207016.1,NM_002849.3,NM_130846.2	21,21,21,21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign	191/546,97/452,303/658,58/413	71139698	2,13004	2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71139698C>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.907G>A	12.37:g.71139698C>T	ENSP00000283228:p.Val303Met					PTPRR_ENST00000342084.4_Missense_Mutation_p.V191M|PTPRR_ENST00000440835.2_Missense_Mutation_p.V58M|PTPRR_ENST00000549308.1_Missense_Mutation_p.V58M|PTPRR_ENST00000378778.1_Missense_Mutation_p.V97M	p.V303M	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	6	1359	-			303					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.907G>A	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431640	0.43122	0.0	2.33E-4	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308;ENST00000550661	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.21	4.28	0.50868	.	0.155280	0.30227	N	0.010119	T	0.36580	0.0972	L	0.46157	1.445	0.42266	D	0.992036	P;P;P;P	0.51240	0.943;0.883;0.481;0.943	B;B;B;B	0.42692	0.395;0.29;0.151;0.317	T	0.10543	-1.0625	10	0.25106	T	0.35	-6.4156	12.3259	0.55011	0.0:0.9136:0.0:0.0864	.	152;191;97;303	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	M	58;303;97;191;58;58	ENSP00000391750:V58M;ENSP00000283228:V303M;ENSP00000368054:V97M;ENSP00000339605:V191M;ENSP00000446943:V58M;ENSP00000449616:V58M	ENSP00000283228:V303M	V	-	1	0	PTPRR	69425965	0.988000	0.35896	0.660000	0.29694	0.982000	0.71751	2.979000	0.49313	1.108000	0.41662	0.655000	0.94253	GTG		0.537	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		21	36	0	0	0	1	0	21	36				
SV2C	22987	broad.mit.edu	37	5	75594619	75594619	+	Splice_Site	SNP	A	A	T			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr5:75594619A>T	ENST00000502798.2	+	10	1945	c.1503A>T	c.(1501-1503)agA>agT	p.R501S	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Splice_Site_p.R501S	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	501					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TGTTGGGCAGATTCATAGGGG	0.378																																						ENST00000502798.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.e10-1		synaptic vesicle glycoprotein 2C							202.0	182.0	188.0					5																	75594619		1850	4086	5936	SO:0001630	splice_region_variant	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75594619A>T	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.1503-1A>T	5.37:g.75594619A>T						SV2C_ENST00000322285.7_Splice_Site_p.R501_splice|RP11-466P24.6_ENST00000502589.1_RNA	p.R501_splice	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	10	1945	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	501					Q496K1|Q9UPU8	Splice_Site	SNP	ENST00000502798.2	37	c.1502_splice	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.374309	0.42105	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.39787	1.06;1.06	4.87	-0.423	0.12325	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.044969	0.85682	D	0.000000	T	0.38241	0.1033	M	0.66939	2.045	0.51233	D	0.999912	B	0.32382	0.368	B	0.36092	0.217	T	0.14559	-1.0468	9	.	.	.	.	9.5129	0.39087	0.4502:0.0:0.5498:0.0	.	501	Q496J9	SV2C_HUMAN	S	501	ENSP00000423541:R501S;ENSP00000316983:R501S	.	R	+	3	2	SV2C	75630375	1.000000	0.71417	0.884000	0.34674	0.424000	0.31475	0.801000	0.27055	-0.000000	0.14550	0.528000	0.53228	AGA		0.378	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4		Missense_Mutation	40	67	0	0	0	1	0	40	67				
AKAP8	10270	broad.mit.edu	37	19	15482768	15482768	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr19:15482768T>C	ENST00000269701.2	-	7	1093	c.1033A>G	c.(1033-1035)Aag>Gag	p.K345E		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	345					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CTTACACCCTTGAATTCTTCA	0.527																																					GBM(190;1671 2163 3274 27186 30476)	ENST00000269701.2																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						c.(1033-1035)Aag>Gag		A kinase (PRKA) anchor protein 8							85.0	75.0	79.0					19																	15482768		2203	4300	6503	SO:0001583	missense	10270				signal transduction	nuclear matrix		g.chr19:15482768T>C	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.1033A>G	19.37:g.15482768T>C	ENSP00000269701:p.Lys345Glu						p.K345E	NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN			7	1093	-			345						Missense_Mutation	SNP	ENST00000269701.2	37	c.1033A>G	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	T	4.229	0.041417	0.08196	.	.	ENSG00000105127	ENST00000269701;ENST00000537303	T	0.40225	1.04	5.44	0.36	0.16097	.	0.263977	0.26140	N	0.026113	T	0.21881	0.0527	N	0.22421	0.69	0.22330	N	0.999195	B;B	0.27791	0.189;0.189	B;B	0.22386	0.039;0.039	T	0.29640	-1.0005	10	0.02654	T	1	-27.3747	12.6965	0.57008	0.0:0.0:0.5788:0.4212	.	345;345	Q8NE02;O43823	.;AKAP8_HUMAN	E	345;94	ENSP00000269701:K345E	ENSP00000269701:K345E	K	-	1	0	AKAP8	15343768	0.998000	0.40836	0.994000	0.49952	0.941000	0.58515	0.525000	0.22956	0.004000	0.14682	0.460000	0.39030	AAG		0.527	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		3	52	0	0	0	1	0	3	52				
HAUS6	54801	broad.mit.edu	37	9	19093294	19093294	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr9:19093294C>T	ENST00000380502.3	-	4	778	c.311G>A	c.(310-312)tGt>tAt	p.C104Y	HAUS6_ENST00000380496.1_5'Flank	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	104					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTACTTCCACATTCACCCTA	0.343																																						ENST00000380502.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(310-312)tGt>tAt		HAUS augmin-like complex, subunit 6							58.0	54.0	55.0					9																	19093294		2203	4296	6499	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19093294C>T	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.311G>A	9.37:g.19093294C>T	ENSP00000369871:p.Cys104Tyr						p.C104Y	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN			4	778	-			104					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.311G>A	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336088	0.41398	.	.	ENSG00000147874	ENST00000380502	T	0.23950	1.88	4.87	3.97	0.46021	.	0.592836	0.18178	N	0.149230	T	0.44973	0.1319	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.30966	-0.9960	10	0.41790	T	0.15	-8.3156	6.2642	0.20917	0.1825:0.7219:0.0:0.0957	.	104	Q7Z4H7	HAUS6_HUMAN	Y	104	ENSP00000369871:C104Y	ENSP00000369871:C104Y	C	-	2	0	HAUS6	19083294	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	1.833000	0.39161	1.042000	0.40150	-0.253000	0.11424	TGT		0.343	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		14	20	0	0	0	1	0	14	20				
OR13H1	347468	broad.mit.edu	37	X	130678747	130678747	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chrX:130678747C>T	ENST00000338616.3	+	1	798	c.700C>T	c.(700-702)Ctc>Ttc	p.L234F		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CCAGGGCAGGCTCAAGGCCTT	0.493																																						ENST00000338616.3																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(700-702)Ctc>Ttc		olfactory receptor, family 13, subfamily H, member 1							200.0	175.0	184.0					X																	130678747		2203	4300	6503	SO:0001583	missense	347468				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chrX:130678747C>T		CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"""GPCR / Class A : Olfactory receptors"""	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.700C>T	X.37:g.130678747C>T	ENSP00000340748:p.Leu234Phe						p.L234F	NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN			1	798	+	Acute lymphoblastic leukemia(192;0.000636)		234					B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	ENST00000338616.3	37	c.700C>T	CCDS35396.1	.	.	.	.	.	.	.	.	.	.	C	1.948	-0.442020	0.04604	.	.	ENSG00000171054	ENST00000338616	T	0.00130	8.69	4.87	-0.44	0.12261	GPCR, rhodopsin-like superfamily (1);	0.441651	0.16675	N	0.204190	T	0.00109	0.0003	N	0.26130	0.795	0.09310	N	1	B	0.23806	0.091	B	0.28385	0.089	T	0.27262	-1.0079	10	0.49607	T	0.09	.	3.2699	0.06878	0.3007:0.2966:0.0:0.4027	.	234	Q8NG92	O13H1_HUMAN	F	234	ENSP00000340748:L234F	ENSP00000340748:L234F	L	+	1	0	OR13H1	130506428	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-2.805000	0.00758	-0.480000	0.06803	-0.199000	0.12753	CTC		0.493	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058297.1			4	158	0	0	0	1	0	4	158				
MT-CO1	4512	broad.mit.edu	37	M	6924	6924	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chrM:6924G>A	ENST00000361624.2	+	1	1021	c.1021G>A	c.(1021-1023)Gcc>Acc	p.A341T	MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	341					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CAGTGCTCTGAGCCCTAGGAT	0.483																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(1021-1023)Gcc>Acc		mitochondrially encoded cytochrome c oxidase I																																				SO:0001583	missense	4512							g.chrM:6924G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.1021G>A	M.37:g.6924G>A	ENSP00000354499:p.Ala341Thr						p.341_341insT							1	1021	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.1021G>A																																																																																					0.483	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		7	16	0	0	0	1	0	7	16				
CNR1	1268	broad.mit.edu	37	6	88854552	88854552	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr6:88854552G>A	ENST00000537554.1	-	2	4004	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	CNR1_ENST00000369501.2_Missense_Mutation_p.R148C|CNR1_ENST00000549716.1_Missense_Mutation_p.R87C|CNR1_ENST00000428600.2_Missense_Mutation_p.R148C|CNR1_ENST00000369499.2_Missense_Mutation_p.R148C|CNR1_ENST00000468898.1_Missense_Mutation_p.R115C|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Missense_Mutation_p.R148C|CNR1_ENST00000549890.1_Missense_Mutation_p.R148C	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	148					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GGCCTGCAGCGGAGGCTGCGG	0.607																																						ENST00000537554.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(442-444)Cgc>Tgc		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						38.0	36.0	37.0					6																	88854552		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854552G>A	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.442C>T	6.37:g.88854552G>A	ENSP00000441046:p.Arg148Cys					CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369501.2_Missense_Mutation_p.R148C|CNR1_ENST00000428600.2_Missense_Mutation_p.R148C|CNR1_ENST00000369499.2_Missense_Mutation_p.R148C|CNR1_ENST00000535130.1_Missense_Mutation_p.R148C|CNR1_ENST00000549890.1_Missense_Mutation_p.R148C|CNR1_ENST00000549716.1_Missense_Mutation_p.R87C|CNR1_ENST00000468898.1_Missense_Mutation_p.R115C	p.R148C	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4004	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	148					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.442C>T	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631419	0.67015	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.72636	-0.4233	10	0.87932	D	0	.	14.7986	0.69898	0.0:0.0:0.8559:0.1441	.	115;148	P21554-3;P21554	.;CNR1_HUMAN	C	148;148;148;148;148;115;148;87	ENSP00000358513:R148C;ENSP00000442689:R148C;ENSP00000441046:R148C;ENSP00000358511:R148C;ENSP00000446819:R148C;ENSP00000420188:R115C;ENSP00000412192:R148C;ENSP00000449549:R87C	ENSP00000358511:R148C	R	-	1	0	CNR1	88911271	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.608000	0.74168	2.732000	0.93576	0.563000	0.77884	CGC		0.607	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			14	19	0	0	0	1	0	14	19				
ARHGEF40	55701	broad.mit.edu	37	14	21542982	21542982	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr14:21542982G>A	ENST00000298694.4	+	3	1220	c.1093G>A	c.(1093-1095)Gct>Act	p.A365T	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.A365T			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	365	Gly-rich.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						AGGCCAGGGGGCTGAAGGACC	0.637																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(1093-1095)Gct>Act		Rho guanine nucleotide exchange factor (GEF) 40							42.0	36.0	38.0					14																	21542982		2203	4298	6501	SO:0001583	missense	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21542982G>A		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.1093G>A	14.37:g.21542982G>A	ENSP00000298694:p.Ala365Thr					ARHGEF40_ENST00000298693.3_Missense_Mutation_p.A365T	p.A365T			Q8TER5	ARH40_HUMAN			3	1220	+			365			Gly-rich.		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.1093G>A	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	G	1.291	-0.607476	0.03717	.	.	ENSG00000165801	ENST00000298694;ENST00000555038;ENST00000298693	T;T	0.02280	4.43;4.36	5.14	-3.25	0.05079	.	1.122620	0.06724	N	0.775421	T	0.01320	0.0043	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.49163	-0.8968	10	0.10636	T	0.68	.	1.8137	0.03096	0.377:0.1263:0.3682:0.1286	.	365;365	Q8TER5;G3V3N2	ARH40_HUMAN;.	T	365	ENSP00000298694:A365T;ENSP00000298693:A365T	ENSP00000298693:A365T	A	+	1	0	ARHGEF40	20612822	0.000000	0.05858	0.035000	0.18076	0.215000	0.24574	-0.011000	0.12721	-0.508000	0.06540	-0.379000	0.06801	GCT		0.637	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			20	18	0	0	0	1	0	20	18				
KANK1	23189	broad.mit.edu	37	9	734778	734778	+	Silent	SNP	A	A	G			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr9:734778A>G	ENST00000382303.1	+	11	3928	c.3276A>G	c.(3274-3276)gcA>gcG	p.A1092A	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.A1092A|KANK1_ENST00000382293.3_Silent_p.A934A	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1092					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TGTTGTCTGCATGCAACTTAC	0.363																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3274-3276)gcA>gcG		KN motif and ankyrin repeat domains 1							86.0	80.0	82.0					9																	734778		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:734778A>G	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3276A>G	9.37:g.734778A>G						KANK1_ENST00000382293.3_Silent_p.A934A|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.A1092A	p.A1092A	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	11	3928	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1092					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.3276A>G	CCDS34976.1																																																																																				0.363	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		12	24	0	0	0	1	0	12	24				
LRFN3	79414	broad.mit.edu	37	19	36431282	36431282	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr19:36431282G>A	ENST00000588831.1	+	3	2009	c.955G>A	c.(955-957)Gca>Aca	p.A319T	LRFN3_ENST00000246529.3_Missense_Mutation_p.A319T			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	319	Ig-like.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCGCTGCCGGGCAGTGGGGGA	0.716																																						ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(955-957)Gca>Aca		leucine rich repeat and fibronectin type III domain containing 3							6.0	8.0	7.0					19																	36431282		2003	3992	5995	SO:0001583	missense	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36431282G>A	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.955G>A	19.37:g.36431282G>A	ENSP00000466989:p.Ala319Thr					LRFN3_ENST00000246529.3_Missense_Mutation_p.A319T	p.A319T			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	2009	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		319			Ig-like.		Q6UY10	Missense_Mutation	SNP	ENST00000588831.1	37	c.955G>A	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331491	0.60853	.	.	ENSG00000126243	ENST00000246529	T	0.68331	-0.32	4.97	4.97	0.65823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36444	N	0.002582	T	0.77805	0.4185	M	0.75264	2.295	0.38794	D	0.955044	P	0.45474	0.859	P	0.54706	0.759	T	0.81529	-0.0891	10	0.56958	D	0.05	.	15.7218	0.77718	0.0:0.0:1.0:0.0	.	319	Q9BTN0	LRFN3_HUMAN	T	319	ENSP00000246529:A319T	ENSP00000246529:A319T	A	+	1	0	LRFN3	41123122	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.362000	0.66098	2.299000	0.77371	0.460000	0.39030	GCA		0.716	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		6	6	0	0	0	1	0	6	6				
GAS2L3	283431	broad.mit.edu	37	12	101005793	101005793	+	Missense_Mutation	SNP	A	A	G			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr12:101005793A>G	ENST00000539410.1	+	5	705	c.319A>G	c.(319-321)Aaa>Gaa	p.K107E	GAS2L3_ENST00000537247.1_Missense_Mutation_p.K3E|GAS2L3_ENST00000547754.1_Missense_Mutation_p.K107E|GAS2L3_ENST00000266754.5_Missense_Mutation_p.K107E			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	107	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TCCAATGAGAAAAGTGCCCTG	0.353																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(7-9)Aaa>Gaa		growth arrest-specific 2 like 3							105.0	104.0	104.0					12																	101005793		2203	4300	6503	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101005793A>G	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.319A>G	12.37:g.101005793A>G	ENSP00000439672:p.Lys107Glu					GAS2L3_ENST00000266754.5_Missense_Mutation_p.K107E|GAS2L3_ENST00000539410.1_Missense_Mutation_p.K107E|GAS2L3_ENST00000547754.1_Missense_Mutation_p.K107E	p.K3E			Q86XJ1	GA2L3_HUMAN			6	961	+			107					B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.7A>G	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.282339	0.59867	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	D;D;T;D	0.95205	-3.64;-3.64;0.88;-3.64	5.81	5.81	0.92471	Calponin homology domain (5);	0.197891	0.51477	D	0.000084	D	0.93664	0.7976	L	0.59967	1.855	0.37738	D	0.925525	B	0.15473	0.013	B	0.29440	0.102	D	0.92181	0.5751	10	0.56958	D	0.05	-17.5249	16.2108	0.82158	1.0:0.0:0.0:0.0	.	107	Q86XJ1	GA2L3_HUMAN	E	107;107;3;107	ENSP00000266754:K107E;ENSP00000448955:K107E;ENSP00000442406:K3E;ENSP00000439672:K107E	ENSP00000266754:K107E	K	+	1	0	GAS2L3	99529924	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.069000	0.76755	2.230000	0.72887	0.456000	0.33151	AAA		0.353	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		5	63	0	0	0	1	0	5	63				
DUSP27	92235	broad.mit.edu	37	1	167096881	167096881	+	Missense_Mutation	SNP	G	G	A	rs370041575		TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr1:167096881G>A	ENST00000361200.2	+	6	2679	c.2513G>A	c.(2512-2514)cGg>cAg	p.R838Q	DUSP27_ENST00000271385.5_Missense_Mutation_p.R838Q|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R838Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	838					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAACTTGGCCGGAAGGAGAAG	0.517																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(2512-2514)cGg>cAg		dual specificity phosphatase 27 (putative)		G	GLN/ARG	0,4406		0,0,2203	71.0	67.0	69.0		2513	1.0	1.0	1		69	1,8599	1.2+/-3.3	0,1,4299	no	missense	DUSP27	NM_001080426.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	838/1159	167096881	1,13005	2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167096881G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2513G>A	1.37:g.167096881G>A	ENSP00000354483:p.Arg838Gln					DUSP27_ENST00000443333.1_Missense_Mutation_p.R838Q|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R838Q	p.R838Q			Q5VZP5	DUS27_HUMAN			6	2679	+			838					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.2513G>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	0.487	-0.877041	0.02550	0.0	1.16E-4	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03330	3.97;3.97;3.97	5.36	1.02	0.19986	.	0.457271	0.19588	N	0.110696	T	0.01061	0.0035	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46261	-0.9204	10	0.23891	T	0.37	-19.4177	11.5693	0.50824	0.3512:0.0:0.6488:0.0	.	838	Q5VZP5	DUS27_HUMAN	Q	838	ENSP00000354483:R838Q;ENSP00000271385:R838Q;ENSP00000404874:R838Q	ENSP00000271385:R838Q	R	+	2	0	DUSP27	165363505	0.993000	0.37304	0.989000	0.46669	0.002000	0.02628	1.894000	0.39768	0.367000	0.24454	-0.472000	0.04984	CGG		0.517	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		5	59	0	0	0	1	0	5	59				
PRSS53	339105	broad.mit.edu	37	16	31098889	31098889	+	Missense_Mutation	SNP	A	A	G			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr16:31098889A>G	ENST00000280606.6	-	3	364	c.211T>C	c.(211-213)Tgg>Cgg	p.W71R	RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.W146R	NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	71	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						GTGAGGACCCAGGTGTCTGCC	0.627																																						ENST00000280606.6																			0				large_intestine(1)|lung(3)	4						c.(211-213)Tgg>Cgg		protease, serine, 53							23.0	29.0	27.0					16																	31098889		2100	4252	6352	SO:0001583	missense	339105				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:31098889A>G		CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"""Serine peptidases / Serine peptidases"""	34407	protein-coding gene	gene with protein product	"""polyserase 3"""	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.211T>C	16.37:g.31098889A>G	ENSP00000280606:p.Trp71Arg					RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.W146R	p.W71R	NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN			3	364	-			71			Peptidase S1 1.			Missense_Mutation	SNP	ENST00000280606.6	37	c.211T>C	CCDS42153.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296409	0.81025	.	.	ENSG00000151006;ENSG00000255439	ENST00000280606;ENST00000529564	D;D	0.83992	-1.79;-1.79	5.97	5.97	0.96955	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.34580	U	0.003843	D	0.92378	0.7581	M	0.88775	2.98	0.52099	D	0.999941	D	0.76494	0.999	D	0.83275	0.996	D	0.93606	0.6934	10	0.87932	D	0	.	15.433	0.75116	1.0:0.0:0.0:0.0	.	71	Q2L4Q9	PRS53_HUMAN	R	71;146	ENSP00000280606:W71R;ENSP00000431371:W146R	ENSP00000280606:W71R	W	-	1	0	RP11-196G11.1;PRSS53	31006390	1.000000	0.71417	0.993000	0.49108	0.891000	0.51852	4.734000	0.62043	2.288000	0.76882	0.533000	0.62120	TGG		0.627	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108580.4	NM_001081268		3	24	0	0	0	1	0	3	24				
CELSR1	9620	broad.mit.edu	37	22	46835246	46835246	+	Missense_Mutation	SNP	C	C	G			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr22:46835246C>G	ENST00000262738.3	-	3	4245	c.4246G>C	c.(4246-4248)Ggc>Cgc	p.G1416R		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1416	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACGCAGGTGCCCCCGTTCTTG	0.647																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(4246-4248)Ggc>Cgc		cadherin, EGF LAG seven-pass G-type receptor 1							68.0	56.0	60.0					22																	46835246		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46835246C>G	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4246G>C	22.37:g.46835246C>G	ENSP00000262738:p.Gly1416Arg						p.G1416R	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	3	4245	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1416			EGF-like 3; calcium-binding.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.4246G>C	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834931	0.91036	.	.	ENSG00000075275	ENST00000262738	D	0.97480	-4.4	5.1	5.1	0.69264	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	U	0.000001	D	0.98880	0.9621	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99741	1.1015	10	0.87932	D	0	.	18.1211	0.89572	0.0:1.0:0.0:0.0	.	1416	Q9NYQ6	CELR1_HUMAN	R	1416	ENSP00000262738:G1416R	ENSP00000262738:G1416R	G	-	1	0	CELSR1	45213910	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.457000	0.80775	2.387000	0.81309	0.561000	0.74099	GGC		0.647	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		10	37	0	0	0	1	0	10	37				
PAXIP1	22976	broad.mit.edu	37	7	154754101	154754101	+	Missense_Mutation	SNP	A	A	C			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr7:154754101A>C	ENST00000404141.1	-	10	2211	c.2057T>G	c.(2056-2058)aTg>aGg	p.M686R	PAXIP1_ENST00000397192.1_Missense_Mutation_p.M686R|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	686	BRCT 3. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CGGCGGTACCATTTTCTTCTT	0.438																																						ENST00000404141.1																			0				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33						c.(2056-2058)aTg>aGg		PAX interacting (with transcription-activation domain) protein 1							156.0	157.0	157.0					7																	154754101		1899	4098	5997	SO:0001583	missense	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154754101A>C	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.2057T>G	7.37:g.154754101A>C	ENSP00000384048:p.Met686Arg					PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.M686R	p.M686R			Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	10	2211	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	686			BRCT 3.|Interaction with TP53BP1.		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	c.2057T>G	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.578594	0.46006	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.56776	0.44;0.44	4.91	3.73	0.42828	BRCT (2);	0.168717	0.38897	U	0.001521	T	0.61677	0.2366	M	0.62723	1.935	0.44018	D	0.996732	D;D;B	0.69078	0.997;0.981;0.361	P;P;B	0.56088	0.791;0.642;0.08	T	0.64360	-0.6426	10	0.87932	D	0	-27.1346	11.1919	0.48690	0.8621:0.0:0.0:0.1379	.	639;652;686	B4DEQ6;Q6ZW49-1;Q6ZW49	.;.;PAXI1_HUMAN	R	686;686;510;639	ENSP00000384048:M686R;ENSP00000380376:M686R	ENSP00000319149:M639R	M	-	2	0	PAXIP1	154385034	1.000000	0.71417	0.895000	0.35142	0.695000	0.40330	8.560000	0.90712	0.802000	0.34089	0.383000	0.25322	ATG		0.438	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		14	24	0	0	0	1	0	14	24				
NALCN	259232	broad.mit.edu	37	13	101797195	101797195	+	Missense_Mutation	SNP	A	A	G			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr13:101797195A>G	ENST00000251127.6	-	16	1973	c.1892T>C	c.(1891-1893)cTg>cCg	p.L631P		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	631					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAGATTCGCAGGCGTAAAGG	0.353																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(1891-1893)cTg>cCg		sodium leak channel, non-selective							173.0	190.0	184.0					13																	101797195		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101797195A>G	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1892T>C	13.37:g.101797195A>G	ENSP00000251127:p.Leu631Pro						p.L631P	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			16	1973	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		631					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.1892T>C	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483926	0.84854	.	.	ENSG00000102452	ENST00000251127	D	0.98345	-4.88	5.75	5.75	0.90469	.	0.065742	0.64402	D	0.000007	D	0.98349	0.9452	L	0.46819	1.47	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.99879	1.1110	10	0.72032	D	0.01	.	16.0519	0.80769	1.0:0.0:0.0:0.0	.	631	Q8IZF0	NALCN_HUMAN	P	631	ENSP00000251127:L631P	ENSP00000251127:L631P	L	-	2	0	NALCN	100595196	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.850000	0.92190	2.196000	0.70406	0.533000	0.62120	CTG		0.353	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		4	138	0	0	0	1	0	4	138				
DDX11	1663	broad.mit.edu	37	12	31238023	31238023	+	Missense_Mutation	SNP	G	G	A	rs200798160		TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr12:31238023G>A	ENST00000407793.2	+	5	852	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	DDX11_ENST00000350437.4_Missense_Mutation_p.E201K|DDX11_ENST00000545668.1_Missense_Mutation_p.E201K|DDX11_ENST00000251758.5_Missense_Mutation_p.E201K|DDX11_ENST00000228264.6_Missense_Mutation_p.E175K|DDX11_ENST00000542838.1_Missense_Mutation_p.E201K	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	201	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGTCCTCGCCGAATACGAGAG	0.617										Multiple Myeloma(12;0.14)																												ENST00000251758.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(601-603)Gaa>Aaa		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							25.0	27.0	26.0					12																	31238023		2202	4290	6492	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31238023G>A	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.601G>A	12.37:g.31238023G>A	ENSP00000384703:p.Glu201Lys	Multiple Myeloma(12;0.14)				DDX11_ENST00000545668.1_Missense_Mutation_p.E201K|DDX11_ENST00000228264.6_Missense_Mutation_p.E175K|DDX11_ENST00000542838.1_Missense_Mutation_p.E201K|DDX11_ENST00000407793.2_Missense_Mutation_p.E201K|DDX11_ENST00000350437.4_Missense_Mutation_p.E201K	p.E201K			Q96FC9	DDX11_HUMAN			5	852	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		201			Glu-rich.|Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.601G>A	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483780	0.63962	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437	T;T;T;T;T;T;T;T	0.80994	-1.44;-0.58;4.09;-1.33;0.2;4.03;-0.58;-1.14	3.7	3.7	0.42460	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.000000	0.85682	D	0.000000	D	0.89223	0.6654	M	0.82517	2.595	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;0.997;0.998;0.999	D	0.90374	0.4383	10	0.59425	D	0.04	.	13.0553	0.58977	0.0:0.0:1.0:0.0	.	201;201;201;201	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	K	201;201;201;175;172;175;201;201	ENSP00000443426:E201K;ENSP00000384703:E201K;ENSP00000251758:E201K;ENSP00000228264:E175K;ENSP00000407646:E172K;ENSP00000406457:E175K;ENSP00000440402:E201K;ENSP00000309965:E201K	ENSP00000228264:E175K	E	+	1	0	DDX11	31129290	1.000000	0.71417	0.016000	0.15963	0.202000	0.24057	8.091000	0.89528	1.895000	0.54865	0.505000	0.49811	GAA		0.617	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		4	4	0	0	0	1	0	4	4				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			0							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		4	57	0	0	0	1	0	4	57				
MYO10	4651	broad.mit.edu	37	5	16702681	16702682	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr5:16702681_16702682insCT	ENST00000513610.1	-	24	2980_2981	c.2526_2527insAG	c.(2524-2529)gagcgafs	p.R843fs	MYO10_ENST00000427430.2_Frame_Shift_Ins_p.R200fs|MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.R200fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.R182fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.R182fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	843					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCTTCTCTTCGCTCTCTCTCTC	0.426																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(2524-2529)gagaagfs		myosin X																																				SO:0001589	frameshift_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16702681_16702682insCT	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2525_2526dupAG	5.37:g.16702690_16702691dupCT	ENSP00000421280:p.Arg843fs					MYO10_ENST00000427430.2_Frame_Shift_Ins_p.K200fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.K182fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.K182fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.K200fs	p.K843fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			24	2980_2981	-			843					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Frame_Shift_Ins	INS	ENST00000513610.1	37	c.2526_2527insAG	CCDS54834.1																																																																																				0.426	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		2	4						2	4	---	---	---	---
CTC-338M12.9	0	broad.mit.edu	37	5	180708659	180708659	+	lincRNA	DEL	G	G	-			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr5:180708659delG	ENST00000412295.2	+	0	238																											AGCGGTAGGAGgggggctgga	0.711																																						ENST00000412295.2																			0																																																			0							g.chr5:180708659delG																													5.37:g.180708659delG														0	238	+									RNA	DEL	ENST00000412295.2	37																																																																																						0.711	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			2	4						2	4	---	---	---	---
CUX1	1523	broad.mit.edu	37	7	101758552	101758555	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr7:101758552_101758555delAAGT	ENST00000292535.7	+	8	711_712	c.673_674delAAGT	c.(673-675)aag>g	p.K225fs	CUX1_ENST00000546411.2_Splice_Site_p.K225fs|CUX1_ENST00000550008.2_Splice_Site_p.K225fs|CUX1_ENST00000547394.2_Splice_Site_p.K220fs|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Splice_Site_p.K190fs|CUX1_ENST00000556210.1_Splice_Site_p.K225fs|CUX1_ENST00000292538.4_Splice_Site_p.K236fs|CUX1_ENST00000393824.3_Splice_Site_p.K199fs|CUX1_ENST00000437600.4_Splice_Site_p.K236fs|CUX1_ENST00000360264.3_Splice_Site_p.K236fs|CUX1_ENST00000549414.2_Splice_Site_p.K225fs	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	225					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AACTACTGCAAAGTAAGTCTCTCT	0.412																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.e8+1		cut-like homeobox 1																																				SO:0001630	splice_region_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101758552_101758555delAAGT	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.674+1AAGT>-	7.37:g.101758556_101758559delAAGT						CUX1_ENST00000550008.2_Splice_Site_p.225_splice|CUX1_ENST00000549414.2_Splice_Site_p.225_splice|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Splice_Site_p.225_splice|CUX1_ENST00000292535.7_Splice_Site_p.225_splice|CUX1_ENST00000437600.4_Splice_Site_p.236_splice|CUX1_ENST00000292538.4_Splice_Site_p.236_splice|CUX1_ENST00000556210.1_Splice_Site_p.225_splice|CUX1_ENST00000425244.2_Splice_Site_p.190_splice|CUX1_ENST00000547394.2_Splice_Site_p.220_splice|CUX1_ENST00000393824.3_Splice_Site_p.199_splice	p.236_splice	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			8	726_727	+			225					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Splice_Site	DEL	ENST00000292535.7	37	c.707_splice	CCDS5721.1																																																																																				0.412	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913	Frame_Shift_Del	22	42						22	42	---	---	---	---
RP11-410D17.2	0	broad.mit.edu	37	16	58926335	58926336	+	lincRNA	INS	-	-	C	rs113534201	byFrequency	TCGA-DE-A69K-01A-11D-A397-08	TCGA-DE-A69K-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c76f3f11-d2e6-4f77-9928-60ee989f34bd	f2f437ba-f2c0-48c9-a7d9-4840c7537311	g.chr16:58926335_58926336insC	ENST00000500117.1	+	0	679																											caccaccatcacccccactact	0.535													cc|CCCCC|CCCCCC|cryptic_indel	1825	0.364417	0.4811	0.2493	5008	,	,		19251	0.3621		0.3181	False		,,,				2504	0.3384					ENST00000500117.1																			0																																																			0							g.chr16:58926335_58926336insC																													16.37:g.58926340_58926340dupC														0	679	+									RNA	INS	ENST00000500117.1	37																																																																																						0.535	RP11-410D17.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000422091.1			2	4						2	4	---	---	---	---
