#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MFN2	9927	broad.mit.edu	37	1	12058937	12058937	+	Splice_Site	SNP	T	T	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:12058937T>A	ENST00000235329.5	+	7	1030		c.e7+2		MFN2_ENST00000444836.1_Splice_Site	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2						apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)	p.?(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		ATGCAGACGGTAACTCCTCCT	0.577																																						ENST00000235329.5																			1	Unknown(1)	p.?(1)	prostate(1)	endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20						c.e7+2		mitofusin 2							202.0	171.0	181.0					1																	12058937		2203	4300	6503	SO:0001630	splice_region_variant	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12058937T>A	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.708+2T>A	1.37:g.12058937T>A			Somatic				MFN2_ENST00000444836.1_Splice_Site		NM_014874.3	NP_055689.1	WXS	Illumina GAIIx	Phase_I	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	7	1030	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)						A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Splice_Site	SNP	ENST00000235329.5	37		CCDS30587.1	.	.	.	.	.	.	.	.	.	.	T	13.32	2.201407	0.38905	.	.	ENSG00000116688	ENST00000444836;ENST00000235329	.	.	.	4.9	3.75	0.43078	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2221	0.43203	0.1486:0.0:0.0:0.8514	.	.	.	.	.	-1	.	.	.	+	.	.	MFN2	11981524	1.000000	0.71417	0.949000	0.38748	0.414000	0.31173	7.666000	0.83877	0.704000	0.31869	-0.336000	0.08194	.		0.577	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874	Intron	14	120	14	120	---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74507397	74507397	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:74507397C>A	ENST00000395089.1	-	6	1217	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.E406D			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	406								p.E406D(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GTGCAAAAAACTCTTTCATAC	0.343																																						ENST00000354431.4																			1	Substitution - Missense(1)	p.E406D(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(1216-1218)gaG>gaT		leucine-rich repeats and IQ motif containing 3							121.0	109.0	113.0					1																	74507397		1841	4084	5925	SO:0001583	missense	127255							g.chr1:74507397C>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1218G>T	1.37:g.74507397C>A	ENSP00000378524:p.Glu406Asp		Somatic				LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E406D	p.E406D	NM_001105659.1	NP_001099129.1	WXS	Illumina GAIIx	Phase_I	A6PVS8	LRIQ3_HUMAN			7	1409	-			406					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1218G>T	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120528	0.37436	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.09350	2.99;2.99	5.56	-3.38	0.04883	.	0.977354	0.08343	N	0.960578	T	0.02304	0.0071	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.48854	-0.8998	10	0.66056	D	0.02	.	5.3268	0.15910	0.2353:0.2276:0.4624:0.0748	.	406	A6PVS8	LRIQ3_HUMAN	D	406	ENSP00000378524:E406D;ENSP00000346414:E406D	ENSP00000346414:E406D	E	-	3	2	LRRIQ3	74279985	0.002000	0.14202	0.043000	0.18650	0.073000	0.16967	-0.540000	0.06106	-0.428000	0.07339	-0.283000	0.09986	GAG		0.343	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		15	74	15	74	---	---	---	---
ARHGAP30	257106	broad.mit.edu	37	1	161022538	161022538	+	Silent	SNP	T	T	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:161022538T>C	ENST00000368013.3	-	7	1034	c.714A>G	c.(712-714)tcA>tcG	p.S238S	ARHGAP30_ENST00000368016.3_Silent_p.S238S|ARHGAP30_ENST00000368015.1_Silent_p.S61S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	238					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.S238S(2)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CGGGGCTGCCTGATGCCCGGG	0.607																																						ENST00000368013.3																			2	Substitution - coding silent(2)	p.S238S(2)	prostate(2)	breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(712-714)tcA>tcG		Rho GTPase activating protein 30							59.0	61.0	60.0					1																	161022538		2203	4300	6503	SO:0001819	synonymous_variant	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161022538T>C	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.714A>G	1.37:g.161022538T>C			Somatic				ARHGAP30_ENST00000368016.3_Silent_p.S238S|ARHGAP30_ENST00000368015.1_Silent_p.S61S	p.S238S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	WXS	Illumina GAIIx	Phase_I	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		7	1034	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		238					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Silent	SNP	ENST00000368013.3	37	c.714A>G	CCDS30918.1																																																																																				0.607	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		3	63	3	63	---	---	---	---
SCN7A	6332	broad.mit.edu	37	2	167262810	167262810	+	Silent	SNP	A	A	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr2:167262810A>T	ENST00000409855.1	-	25	4455	c.4329T>A	c.(4327-4329)atT>atA	p.I1443I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1443					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.I1443I(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TACTGTTGAAAATTGCATCAA	0.383																																						ENST00000409855.1																			3	Substitution - coding silent(3)	p.I1443I(3)	prostate(3)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4327-4329)atT>atA		sodium channel, voltage-gated, type VII, alpha subunit							142.0	135.0	138.0					2																	167262810		1875	4134	6009	SO:0001819	synonymous_variant	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167262810A>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4329T>A	2.37:g.167262810A>T			Somatic					p.I1443I	NM_002976.3	NP_002967.2	WXS	Illumina GAIIx	Phase_I	Q01118	SCN7A_HUMAN			25	4455	-			1443						Silent	SNP	ENST00000409855.1	37	c.4329T>A	CCDS46442.1																																																																																				0.383	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			32	132	32	132	---	---	---	---
CLASP2	23122	broad.mit.edu	37	3	33602330	33602330	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr3:33602330G>C	ENST00000468888.2	-	28	2970	c.2924C>G	c.(2923-2925)gCa>gGa	p.A975G	CLASP2_ENST00000480013.1_Missense_Mutation_p.A754G|CLASP2_ENST00000359576.5_Missense_Mutation_p.A966G|CLASP2_ENST00000307312.7_Missense_Mutation_p.A456G|CLASP2_ENST00000461133.3_Missense_Mutation_p.A734G|CLASP2_ENST00000399362.4_Missense_Mutation_p.A974G|CLASP2_ENST00000539981.1_Missense_Mutation_p.A744G			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	755	Interaction with RSN and localization to the Golgi and kinetochores.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.A967G(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CTGAACTTTTGCCTGAACAGA	0.338																																						ENST00000399362.4																			1	Substitution - Missense(1)	p.A967G(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2920-2922)gCa>gGa		cytoplasmic linker associated protein 2							198.0	195.0	196.0					3																	33602330		1825	4097	5922	SO:0001583	missense	23122							g.chr3:33602330G>C	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2924C>G	3.37:g.33602330G>C	ENSP00000419974:p.Ala975Gly		Somatic				CLASP2_ENST00000468888.2_Missense_Mutation_p.A975G|CLASP2_ENST00000307312.7_Missense_Mutation_p.A456G|CLASP2_ENST00000480013.1_Missense_Mutation_p.A754G|CLASP2_ENST00000359576.5_Missense_Mutation_p.A966G|CLASP2_ENST00000539981.1_Missense_Mutation_p.A744G|CLASP2_ENST00000461133.3_Missense_Mutation_p.A734G	p.A974G	NM_015097.2	NP_055912.2	WXS	Illumina GAIIx	Phase_I	B2RTR1	B2RTR1_HUMAN			28	3274	-			976					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.2921C>G		.	.	.	.	.	.	.	.	.	.	G	25.1	4.602670	0.87157	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.62	5.62	0.85841	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75199	0.3817	L	0.32530	0.975	0.80722	D	1	D;D;P	0.76494	0.999;0.998;0.803	D;D;P	0.80764	0.993;0.994;0.573	T	0.73014	-0.4116	10	0.37606	T	0.19	-22.908	19.6764	0.95936	0.0:0.0:1.0:0.0	.	755;966;974	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	G	975;974;966;456;744;754;734	ENSP00000419974:A975G;ENSP00000382297:A974G;ENSP00000352581:A966G;ENSP00000304743:A456G;ENSP00000439039:A744G;ENSP00000417518:A754G;ENSP00000419305:A734G	ENSP00000304743:A456G	A	-	2	0	CLASP2	33577334	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.496000	0.97967	2.660000	0.90430	0.655000	0.94253	GCA		0.338	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		31	177	31	177	---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89391103	89391103	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr3:89391103C>A	ENST00000336596.2	+	5	1394	c.1169C>A	c.(1168-1170)aCc>aAc	p.T390N	EPHA3_ENST00000452448.2_Missense_Mutation_p.T390N|EPHA3_ENST00000494014.1_Missense_Mutation_p.T390N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	390	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.T390N(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTTGGACTCACCAACACCACG	0.478										TSP Lung(6;0.00050)																												ENST00000336596.2																			2	Substitution - Missense(2)	p.T390N(2)	prostate(2)	NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(1168-1170)aCc>aAc		EPH receptor A3							107.0	93.0	98.0					3																	89391103		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89391103C>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1169C>A	3.37:g.89391103C>A	ENSP00000337451:p.Thr390Asn	TSP Lung(6;0.00050)	Somatic				EPHA3_ENST00000452448.2_Missense_Mutation_p.T390N|EPHA3_ENST00000494014.1_Missense_Mutation_p.T390N	p.T390N	NM_005233.5	NP_005224.2	WXS	Illumina GAIIx	Phase_I	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	5	1394	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	390			Fibronectin type-III 1.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.1169C>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054175	0.36277	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.60424	0.19;0.19;0.19	5.66	3.76	0.43208	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.457203	0.26658	N	0.023164	T	0.52693	0.1750	L	0.49571	1.57	0.40098	D	0.976334	B;B	0.18610	0.029;0.006	B;B	0.21917	0.037;0.017	T	0.51803	-0.8659	9	.	.	.	.	16.8533	0.86000	0.0:0.76:0.24:0.0	.	390;390	P29320;P29320-2	EPHA3_HUMAN;.	N	390	ENSP00000337451:T390N;ENSP00000399926:T390N;ENSP00000419190:T390N	.	T	+	2	0	EPHA3	89473793	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	1.342000	0.33919	1.518000	0.48934	0.655000	0.94253	ACC		0.478	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		4	71	4	71	---	---	---	---
ADAM29	11086	broad.mit.edu	37	4	175897858	175897858	+	Silent	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr4:175897858C>T	ENST00000359240.3	+	5	1852	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	ADAM29_ENST00000514159.1_Silent_p.I394I|ADAM29_ENST00000445694.1_Silent_p.I394I|ADAM29_ENST00000404450.4_Silent_p.I394I|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	394					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I394I(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CAAAGGACATCTTTAATGTGA	0.393																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			2	Substitution - coding silent(2)	p.I394I(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(1180-1182)atC>atT		ADAM metallopeptidase domain 29							214.0	209.0	211.0					4																	175897858		2203	4300	6503	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897858C>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1182C>T	4.37:g.175897858C>T			Somatic				ADAM29_ENST00000514159.1_Silent_p.I394I|ADAM29_ENST00000404450.4_Silent_p.I394I|ADAM29_ENST00000445694.1_Silent_p.I394I	p.I394I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	WXS	Illumina GAIIx	Phase_I	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1852	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	394					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.1182C>T	CCDS3823.1																																																																																				0.393	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				28	129	28	129	---	---	---	---
PPP2R2B	5521	broad.mit.edu	37	5	146017843	146017843	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr5:146017843G>A	ENST00000394413.3	-	6	1331	c.761C>T	c.(760-762)gCa>gTa	p.A254V	PPP2R2B_ENST00000394411.4_Missense_Mutation_p.A254V|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.A260V|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.A320V|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.A312V|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.A254V|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.A254V|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.A257V			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	254					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.A257V(1)|p.A312V(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGGCAGATGCCCGCATGTC	0.597																																						ENST00000394413.3																			2	Substitution - Missense(2)	p.A257V(1)|p.A312V(1)	prostate(2)	endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(760-762)gCa>gTa		protein phosphatase 2, regulatory subunit B, beta							131.0	100.0	110.0					5																	146017843		2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146017843G>A	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.761C>T	5.37:g.146017843G>A	ENSP00000377935:p.Ala254Val		Somatic				PPP2R2B_ENST00000394410.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.A254V|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.A254V|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.A260V|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.A320V|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.A254V|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.A312V|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.A257V	p.A254V			WXS	Illumina GAIIx	Phase_I	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1331	-			254					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.761C>T	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787867	0.49997	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.561745	0.19336	N	0.116787	T	0.36110	0.0955	L	0.58583	1.82	0.21147	N	0.99977	B;B;B;B;B;B	0.13594	0.006;0.008;0.003;0.006;0.008;0.001	B;B;B;B;B;B	0.13407	0.005;0.003;0.003;0.005;0.009;0.002	T	0.22661	-1.0210	10	0.52906	T	0.07	-4.0546	19.2061	0.93730	0.0:0.0:1.0:0.0	.	312;260;243;320;257;254	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	V	254;243;320;254;254;254;243;257;260;312	ENSP00000377935:A254V;ENSP00000431320:A243V;ENSP00000377936:A320V;ENSP00000377933:A254V;ENSP00000349283:A254V;ENSP00000398779:A254V;ENSP00000377932:A243V;ENSP00000336591:A257V;ENSP00000421396:A260V;ENSP00000377931:A312V	ENSP00000336591:A257V	A	-	2	0	AC011357.1	145998036	0.773000	0.28580	0.878000	0.34440	0.970000	0.65996	4.255000	0.58804	2.536000	0.85505	0.650000	0.86243	GCA		0.597	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		8	68	8	68	---	---	---	---
MOXD1	26002	broad.mit.edu	37	6	132641814	132641814	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr6:132641814A>G	ENST00000367963.3	-	9	1437	c.1319T>C	c.(1318-1320)aTt>aCt	p.I440T	MOXD1_ENST00000336749.3_Missense_Mutation_p.I372T|MOXD1_ENST00000489128.1_5'UTR	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	440						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.I440T(1)|p.I372T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		ACACTCAGTAATTAGGTTATC	0.308																																						ENST00000367963.3																			2	Substitution - Missense(2)	p.I440T(1)|p.I372T(1)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37						c.(1318-1320)aTt>aCt		monooxygenase, DBH-like 1							73.0	73.0	73.0					6																	132641814		2203	4300	6503	SO:0001583	missense	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132641814A>G	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1319T>C	6.37:g.132641814A>G	ENSP00000356940:p.Ile440Thr		Somatic				MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Missense_Mutation_p.I372T	p.I440T	NM_015529.2	NP_056344.2	WXS	Illumina GAIIx	Phase_I	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	9	1437	-	Breast(56;0.0495)		440					Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	c.1319T>C	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	A	15.92	2.974684	0.53720	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.76968	-1.06;-1.06	5.58	5.58	0.84498	PHM/PNGase F domain (1);Copper type II, ascorbate-dependent monooxygenase-like, C-terminal (1);	0.058074	0.64402	D	0.000003	T	0.73024	0.3534	L	0.47078	1.49	0.80722	D	1	B;P	0.49559	0.118;0.925	B;P	0.49752	0.217;0.621	T	0.77362	-0.2616	10	0.62326	D	0.03	-22.7767	15.7142	0.77655	1.0:0.0:0.0:0.0	.	440;372	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	T	440;372	ENSP00000356940:I440T;ENSP00000336998:I372T	ENSP00000336998:I372T	I	-	2	0	MOXD1	132683507	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.373000	0.79623	2.244000	0.73946	0.460000	0.39030	ATT		0.308	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		6	24	6	24	---	---	---	---
MLLT4	4301	broad.mit.edu	37	6	168297653	168297653	+	Splice_Site	SNP	G	G	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr6:168297653G>T	ENST00000447894.2	+	10	1317		c.e10+1		MLLT4_ENST00000344191.4_Splice_Site|MLLT4_ENST00000392108.3_Splice_Site|MLLT4_ENST00000366806.2_Splice_Site|MLLT4_ENST00000392112.1_Splice_Site|MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000400822.3_Splice_Site			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.?(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTCTATCCAGGTACGTAGTCT	0.433			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		2	Unknown(2)	p.?(2)	prostate(2)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.e10+1		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							89.0	84.0	86.0					6																	168297653		2203	4300	6503	SO:0001630	splice_region_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168297653G>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.1317+1G>T	6.37:g.168297653G>T			Somatic				MLLT4_ENST00000392112.1_Splice_Site|MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000400822.3_Splice_Site|MLLT4_ENST00000344191.4_Splice_Site|MLLT4_ENST00000447894.2_Splice_Site|MLLT4_ENST00000392108.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	10	1459	+		Breast(66;1.07e-05)|Ovarian(120;0.024)						O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Splice_Site	SNP	ENST00000447894.2	37			.	.	.	.	.	.	.	.	.	.	G	19.93	3.917946	0.73098	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894;ENST00000423229	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8669	0.92296	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLLT4	168040502	1.000000	0.71417	0.995000	0.50966	0.691000	0.40173	9.467000	0.97671	2.447000	0.82792	0.591000	0.81541	.		0.433	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	Intron	5	22	5	22	---	---	---	---
TRGV8	6982	broad.mit.edu	37	7	38370456	38370456	+	RNA	SNP	C	C	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr7:38370456C>A	ENST00000390343.2	-	0	80				RP11-121A8.1_ENST00000609522.1_lincRNA					T cell receptor gamma variable 8																		AGTAAGGGACCAGACGAAGAG	0.527																																						ENST00000390343.2																			0																				66.0	68.0	67.0					7																	38370456		1926	4143	6069			6982							g.chr7:38370456C>A	M13434		7p14	2012-02-07			ENSG00000211696	ENSG00000211696		"""T cell receptors / TRG locus"""	12294	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V8"""			TCRGV8			Standard	NG_001336		Approved	V1S8			OTTHUMG00000155098		7.37:g.38370456C>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	80	-									RNA	SNP	ENST00000390343.2	37																																																																																						0.527	TRGV8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338399.4	NG_001336		3	59	3	59	---	---	---	---
GALNTL5	168391	broad.mit.edu	37	7	151664546	151664547	+	Missense_Mutation	DNP	GG	GG	AC			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr7:151664546_151664547GG>AC	ENST00000392800.2	+	2	469_470	c.215_216GG>AC	c.(214-216)aGG>aAC	p.R72N	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72N	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	72					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.R72K(1)|p.R72S(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATAGTCAAAAGGACTGATGAAG	0.371																																						ENST00000392800.2																			2	Substitution - Missense(2)	p.R72K(1)|p.R72S(1)	prostate(2)	NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32						c.(214-216)aGg>aAg|c.(214-216)agG>agC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5																																				SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151664546G>A|g.chr7:151664547G>C	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	Exception_encountered	7.37:g.151664546_151664547delinsAC	ENSP00000376548:p.Arg72Asn		Somatic				GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72K|GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72S	p.R72K|p.R72S	NM_145292.3	NP_660335.2	WXS	Illumina GAIIx	Phase_I	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	2	469|470	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	72					Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.215G>A|c.216G>C	CCDS5929.1																																																																																				0.371	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		4	41|39	4	39	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77690474	77690474	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr8:77690474C>T	ENST00000521891.2	+	4	3572	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S	ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1016S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1016S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1016S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1016					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P1042S(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCAGTGAATCCCGAATCCTG	0.483										HNSCC(33;0.089)																												ENST00000521891.2																			2	Substitution - Missense(2)	p.P1042S(2)	prostate(2)	NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(3124-3126)Ccc>Tcc		zinc finger homeobox 4							127.0	126.0	126.0					8																	77690474		2005	4162	6167	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77690474C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3124C>T	8.37:g.77690474C>T	ENSP00000430497:p.Pro1042Ser	HNSCC(33;0.089)	Somatic				ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1016S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1016S|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1016S	p.P1042S	NM_024721.4	NP_078997.4	WXS	Illumina GAIIx	Phase_I	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		4	3572	+			1016					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.3124C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	5.379	0.255137	0.10185	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.22	2.34	0.29019	.	0.322259	0.22228	N	0.062847	T	0.16642	0.0400	N	0.10916	0.065	0.32614	N	0.524203	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.33163	-0.9879	10	0.02654	T	1	.	5.6426	0.17572	0.0:0.6205:0.1396:0.2399	.	1016;1016;1042	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	S	1042;1042;1016;1016;1016	ENSP00000430497:P1042S;ENSP00000399605:P1016S;ENSP00000050961:P1016S;ENSP00000430848:P1016S	ENSP00000050961:P1016S	P	+	1	0	ZFHX4	77853029	0.996000	0.38824	0.955000	0.39395	0.957000	0.61999	1.011000	0.29911	0.394000	0.25230	0.650000	0.86243	CCC		0.483	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		25	99	25	99	---	---	---	---
SLC37A4	2542	broad.mit.edu	37	11	118900037	118900037	+	Missense_Mutation	SNP	A	A	C	rs528095472		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr11:118900037A>C	ENST00000545985.1	-	3	799	c.43T>G	c.(43-45)Tca>Gca	p.S15A	SLC37A4_ENST00000357590.5_Missense_Mutation_p.S15A|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000330775.7_Missense_Mutation_p.S15A|SLC37A4_ENST00000538950.1_Intron	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	15					carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphate transmembrane transporter activity (GO:0015152)|transporter activity (GO:0005215)	p.S15A(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		AACATGGCTGAGAAGATCACA	0.517																																						ENST00000545985.1																			1	Substitution - Missense(1)	p.S15A(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6						c.(43-45)Tca>Gca		solute carrier family 37 (glucose-6-phosphate transporter), member 4							86.0	85.0	85.0					11																	118900037		2038	4186	6224	SO:0001583	missense	2542				glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity	g.chr11:118900037A>C	Y15409		11q23.3	2014-09-17	2007-03-28	2003-09-10		ENSG00000137700		"""Solute carriers"""	4061	protein-coding gene	gene with protein product		602671	"""glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1"""	G6PT1, G6PT2, G6PT3		9428641, 9463334	Standard	NM_001164277		Approved	GSD1b, GSD1c, GSD1d	uc010ryt.1	O43826		ENST00000545985.1:c.43T>G	11.37:g.118900037A>C	ENSP00000475241:p.Ser15Ala		Somatic				SLC37A4_ENST00000330775.7_Missense_Mutation_p.S15A|SLC37A4_ENST00000357590.5_Missense_Mutation_p.S15A|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Intron	p.S15A	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	WXS	Illumina GAIIx	Phase_I	O43826	G6PT1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)	3	799	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	15					O96016|Q5J7V4|Q9UI19|Q9UNS4	Missense_Mutation	SNP	ENST00000545985.1	37	c.43T>G																																																																																					0.517	SLC37A4-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001467		4	24	4	24	---	---	---	---
APPL2	55198	broad.mit.edu	37	12	105571030	105571030	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr12:105571030G>A	ENST00000258530.3	-	18	1870	c.1645C>T	c.(1645-1647)Cca>Tca	p.P549S	APPL2_ENST00000539978.2_Missense_Mutation_p.P506S|APPL2_ENST00000551662.1_Missense_Mutation_p.P555S|APPL2_ENST00000546731.1_5'Flank	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.P549S(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGAGTCTGTGGATCTATCAAC	0.328																																						ENST00000258530.3																			1	Substitution - Missense(1)	p.P549S(1)	prostate(1)	breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1645-1647)Cca>Tca		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2							157.0	145.0	149.0					12																	105571030		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105571030G>A	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1645C>T	12.37:g.105571030G>A	ENSP00000258530:p.Pro549Ser		Somatic				APPL2_ENST00000539978.2_Missense_Mutation_p.P506S|APPL2_ENST00000551662.1_Missense_Mutation_p.P555S	p.P549S	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	WXS	Illumina GAIIx	Phase_I	Q8NEU8	DP13B_HUMAN			18	1870	-			549			PID.		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.1645C>T	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622571	0.87460	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662;ENST00000553109	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.32	5.32	0.75619	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.993	P;D;P	0.87578	0.82;0.998;0.835	T	0.54892	-0.8225	10	0.87932	D	0	-13.789	18.9808	0.92755	0.0:0.0:1.0:0.0	.	555;506;549	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	S	549;506;555;80	ENSP00000258530:P549S;ENSP00000444472:P506S;ENSP00000446917:P555S;ENSP00000446510:P80S	ENSP00000258530:P549S	P	-	1	0	APPL2	104095160	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.371000	0.66150	2.492000	0.84095	0.650000	0.86243	CCA		0.328	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		7	52	7	52	---	---	---	---
LRRC49	54839	broad.mit.edu	37	15	71329574	71329574	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr15:71329574A>G	ENST00000260382.5	+	15	2020	c.1760A>G	c.(1759-1761)aAc>aGc	p.N587S	LRRC49_ENST00000560158.2_Missense_Mutation_p.N275S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.N577S|LRRC49_ENST00000560691.1_Missense_Mutation_p.N293S|LRRC49_ENST00000560369.1_Missense_Mutation_p.N592S|LRRC49_ENST00000443425.2_Missense_Mutation_p.N543S	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	587						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.N587S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GGTATTATCAACGAAGAAAAT	0.318																																						ENST00000260382.5																			1	Substitution - Missense(1)	p.N587S(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(1759-1761)aAc>aGc		leucine rich repeat containing 49							85.0	93.0	91.0					15																	71329574		2199	4295	6494	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71329574A>G		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1760A>G	15.37:g.71329574A>G	ENSP00000260382:p.Asn587Ser		Somatic				LRRC49_ENST00000560691.1_Missense_Mutation_p.N293S|LRRC49_ENST00000560369.1_Missense_Mutation_p.N592S|LRRC49_ENST00000443425.2_Missense_Mutation_p.N543S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.N577S|LRRC49_ENST00000560158.2_Missense_Mutation_p.N275S	p.N587S	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	WXS	Illumina GAIIx	Phase_I	Q8IUZ0	LRC49_HUMAN			15	2020	+			587					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.1760A>G	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	A	0.837	-0.743241	0.03088	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.33438	1.41;1.42;1.41	5.04	-6.24	0.02046	.	0.634375	0.17060	N	0.188588	T	0.11580	0.0282	N	0.03115	-0.41	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0	T	0.19943	-1.0290	10	0.13470	T	0.59	-0.4476	17.7229	0.88357	0.2339:0.0:0.7661:0.0	.	592;559;543;587;577	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	S	577;587;543;559	ENSP00000439600:N577S;ENSP00000260382:N587S;ENSP00000414065:N543S	ENSP00000260382:N587S	N	+	2	0	LRRC49	69116628	0.100000	0.21855	0.026000	0.17262	0.927000	0.56198	-0.553000	0.06012	-1.105000	0.03011	0.533000	0.62120	AAC		0.318	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		4	114	4	114	---	---	---	---
IRX5	10265	broad.mit.edu	37	16	54966502	54966502	+	Silent	SNP	A	A	G			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr16:54966502A>G	ENST00000394636.4	+	2	679	c.342A>G	c.(340-342)ccA>ccG	p.P114P	IRX5_ENST00000320990.5_Silent_p.P114P|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000558597.1_Silent_p.P48P|IRX5_ENST00000560154.1_Intron			P78411	IRX5_HUMAN	iroquois homeobox 5	114					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)	p.P114P(1)		kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						ACGGGGACCCAGCGTACCGGA	0.657																																						ENST00000394636.4																			1	Substitution - coding silent(1)	p.P114P(1)	prostate(1)	kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(340-342)ccA>ccG		iroquois homeobox 5							102.0	86.0	92.0					16																	54966502		2198	4300	6498	SO:0001819	synonymous_variant	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54966502A>G	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.342A>G	16.37:g.54966502A>G			Somatic				IRX5_ENST00000558597.1_Silent_p.P48P|IRX5_ENST00000320990.5_Silent_p.P114P|IRX5_ENST00000560154.1_Intron	p.P114P			WXS	Illumina GAIIx	Phase_I	P78411	IRX5_HUMAN			2	679	+			114					H0YMS7|P78416|Q7Z2E1	Silent	SNP	ENST00000394636.4	37	c.342A>G	CCDS10751.1																																																																																				0.657	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			17	81	17	81	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7690227	7690227	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:7690227A>T	ENST00000572933.1	+	42	7939	c.6479A>T	c.(6478-6480)gAc>gTc	p.D2160V	DNAH2_ENST00000389173.2_Missense_Mutation_p.D2160V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2160	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D2160V(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGAAACCCGACGAGAAGTGG	0.567																																						ENST00000572933.1																			1	Substitution - Missense(1)	p.D2160V(1)	prostate(1)	NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(6478-6480)gAc>gTc		dynein, axonemal, heavy chain 2							82.0	58.0	66.0					17																	7690227		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7690227A>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6479A>T	17.37:g.7690227A>T	ENSP00000458355:p.Asp2160Val		Somatic				DNAH2_ENST00000389173.2_Missense_Mutation_p.D2160V	p.D2160V			WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			42	7939	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2160			AAA 2 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.6479A>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.407497	0.83340	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.87887	-2.31	5.05	5.05	0.67936	ATPase, dynein-related, AAA domain (1);	0.184903	0.45361	D	0.000368	D	0.91005	0.7171	L	0.60957	1.885	0.80722	D	1	D	0.63880	0.993	D	0.63597	0.916	D	0.91853	0.5493	10	0.72032	D	0.01	.	13.9099	0.63860	1.0:0.0:0.0:0.0	.	2160	Q9P225	DYH2_HUMAN	V	2160	ENSP00000373825:D2160V	ENSP00000353818:D2160V	D	+	2	0	DNAH2	7630952	1.000000	0.71417	0.955000	0.39395	0.806000	0.45545	8.376000	0.90138	2.114000	0.64651	0.467000	0.42956	GAC		0.567	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		11	45	11	45	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10355525	10355525	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:10355525G>A	ENST00000255381.2	-	27	3581	c.3471C>T	c.(3469-3471)gcC>gcT	p.A1157A	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1157					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.A1157A(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGCCCCACCGGCTTCTTCCA	0.607																																						ENST00000255381.2																			1	Substitution - coding silent(1)	p.A1157A(1)	prostate(1)	NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(3469-3471)gcC>gcT		myosin, heavy chain 4, skeletal muscle							80.0	89.0	86.0					17																	10355525		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10355525G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3471C>T	17.37:g.10355525G>A			Somatic				RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	p.A1157A	NM_017533.2	NP_060003.2	WXS	Illumina GAIIx	Phase_I	Q9Y623	MYH4_HUMAN			27	3581	-			1157						Silent	SNP	ENST00000255381.2	37	c.3471C>T	CCDS11154.1																																																																																				0.607	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		34	125	34	125	---	---	---	---
CSH2	1443	broad.mit.edu	37	17	61949662	61949663	+	Missense_Mutation	DNP	GG	GG	CA	rs184890744	byFrequency	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:61949662_61949663GG>CA	ENST00000392886.2	-	5	628_629	c.477_478CC>TG	c.(475-480)cgCCgg>cgTGgg	p.R160G	CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Missense_Mutation_p.R103G|CSH2_ENST00000345366.7_Missense_Mutation_p.R65G	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	160						extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.R159R(1)|p.R160G(1)		endometrium(2)|large_intestine(1)|lung(3)	6						TGCCCAGTCCGGCGGCTGCCGT	0.55																																						ENST00000392886.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.R160G(1)|p.R159R(1)	prostate(2)	endometrium(2)|large_intestine(1)|lung(3)	6						c.(478-480)Cgg>Ggg|c.(475-477)cgC>cgT		chorionic somatomammotropin hormone 2																																				SO:0001583	missense	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61949662G>C|g.chr17:61949663G>A	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.477_478delinsCA	17.37:g.61949662_61949663delinsCA	ENSP00000376623:p.Arg160Gly		Somatic				CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Missense_Mutation_p.R65G|CSH2_ENST00000560142.1_Missense_Mutation_p.R103G|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Silent_p.R64R|CSH2_ENST00000560142.1_Silent_p.R102R	p.R160G|p.R159R	NM_020991.3	NP_066271.1	WXS	Illumina GAIIx	Phase_I	P01243	CSH_HUMAN			5	629|628	-			160|159					P01243|Q0VDB1|Q14407	Missense_Mutation|Silent	SNP	ENST00000392886.2	37	c.478C>G|c.477C>T	CCDS42369.1																																																																																				0.550	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991		28|27	124|119	27	119	---	---	---	---
DSG2	1829	broad.mit.edu	37	18	29099853	29099853	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr18:29099853G>A	ENST00000261590.8	+	3	378	c.169G>A	c.(169-171)Gct>Act	p.A57T	DSG2_ENST00000585206.1_Missense_Mutation_p.A57T	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	57	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A57T(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CGCCCCCGTGGCTCTTCGGGA	0.453																																						ENST00000261590.8																			1	Substitution - Missense(1)	p.A57T(1)	prostate(1)	breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(169-171)Gct>Act		desmoglein 2							69.0	71.0	70.0					18																	29099853		1885	4110	5995	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29099853G>A	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.169G>A	18.37:g.29099853G>A	ENSP00000261590:p.Ala57Thr		Somatic				DSG2_ENST00000585206.1_Missense_Mutation_p.A57T	p.A57T	NM_001943.3	NP_001934.2	WXS	Illumina GAIIx	Phase_I	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		3	378	+			57			Cadherin 1.		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.169G>A	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784784	0.31593	.	.	ENSG00000046604	ENST00000261590	T	0.59083	0.29	5.21	-2.87	0.05700	Cadherin-like (1);	0.426837	0.16837	U	0.197512	T	0.21590	0.0520	N	0.03999	-0.3	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.30822	-0.9965	10	0.02654	T	1	.	4.6851	0.12754	0.3977:0.0:0.3116:0.2907	.	57	Q14126	DSG2_HUMAN	T	57	ENSP00000261590:A57T	ENSP00000261590:A57T	A	+	1	0	DSG2	27353851	0.020000	0.18652	0.061000	0.19648	0.929000	0.56500	-0.343000	0.07791	-0.225000	0.09913	0.561000	0.74099	GCT		0.453	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		15	70	15	70	---	---	---	---
SIGLEC9	27180	broad.mit.edu	37	19	51630484	51630484	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:51630484G>C	ENST00000250360.3	+	4	1013	c.946G>C	c.(946-948)Gct>Cct	p.A316P	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.A316P	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	316	Ig-like C2-type 2.		A -> D (in dbSNP:rs273688).		cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.A316P(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GAGGGATGCAGCTGAATTCAC	0.632																																						ENST00000440804.3																			1	Substitution - Missense(1)	p.A316P(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(946-948)Gct>Cct		sialic acid binding Ig-like lectin 9							41.0	40.0	40.0					19																	51630484		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51630484G>C	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.946G>C	19.37:g.51630484G>C	ENSP00000250360:p.Ala316Pro		Somatic				SIGLEC9_ENST00000250360.3_Missense_Mutation_p.A316P	p.A316P	NM_001198558.1	NP_001185487.1	WXS	Illumina GAIIx	Phase_I	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	4	1013	+		all_neural(266;0.0529)	316		A -> D (in dbSNP:rs273688).	Ig-like C2-type 2.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.946G>C	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	11.09	1.535351	0.27475	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.13089	2.62;2.62	2.3	2.3	0.28687	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.635768	0.12920	N	0.428257	T	0.10252	0.0251	L	0.29908	0.895	0.09310	N	1	B	0.25772	0.134	B	0.23574	0.047	T	0.23762	-1.0179	10	0.87932	D	0	.	7.7535	0.28911	0.0:0.0:1.0:0.0	.	316	Q9Y336	SIGL9_HUMAN	P	316	ENSP00000413861:A316P;ENSP00000250360:A316P	ENSP00000250360:A316P	A	+	1	0	SIGLEC9	56322296	0.029000	0.19370	0.002000	0.10522	0.002000	0.02628	2.226000	0.42963	1.127000	0.42034	0.407000	0.27541	GCT		0.632	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		8	45	8	45	---	---	---	---
PRKCG	5582	broad.mit.edu	37	19	54387493	54387493	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:54387493C>T	ENST00000263431.3	+	3	563	c.281C>T	c.(280-282)aCg>aTg	p.T94M	PRKCG_ENST00000542049.1_Silent_p.D18D|PRKCG_ENST00000536044.1_Missense_Mutation_p.T94M|PRKCG_ENST00000540413.1_Missense_Mutation_p.T94M	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	94					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GGCCCCCAGACGGACGTGAGT	0.577																																						ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(280-282)aCg>aTg		protein kinase C, gamma							73.0	68.0	69.0					19																	54387493		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54387493C>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.281C>T	19.37:g.54387493C>T	ENSP00000263431:p.Thr94Met		Somatic				PRKCG_ENST00000540413.1_Missense_Mutation_p.T94M|PRKCG_ENST00000542049.1_Silent_p.D18D|PRKCG_ENST00000536044.1_Missense_Mutation_p.T94M	p.T94M	NM_002739.3	NP_002730.1	WXS	Illumina GAIIx	Phase_I	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	3	563	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		94					B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.281C>T	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660522	0.67586	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000419486	T;T;T	0.79141	-1.24;-0.57;-0.57	4.68	4.68	0.58851	.	.	.	.	.	D	0.84750	0.5541	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.61697	0.982;0.986;0.99;0.987	P;P;P;P	0.56514	0.707;0.8;0.608;0.772	D	0.87111	0.2185	9	0.72032	D	0.01	.	15.4645	0.75387	0.0:1.0:0.0:0.0	.	94;94;94;94	F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;KPCG_HUMAN	M	94;94;94;117	ENSP00000440541:T94M;ENSP00000443493:T94M;ENSP00000263431:T94M	ENSP00000263431:T94M	T	+	2	0	PRKCG	59079305	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.762000	0.74950	2.332000	0.79248	0.313000	0.20887	ACG		0.577	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		14	67	14	67	---	---	---	---
ZNF749	388567	broad.mit.edu	37	19	57956721	57956721	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:57956721A>C	ENST00000334181.4	+	3	2455	c.2205A>C	c.(2203-2205)aaA>aaC	p.K735N	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	735					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K735N(1)|p.K648N(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		ACTTCAACAAATGTAATACTG	0.398																																						ENST00000334181.4																			2	Substitution - Missense(2)	p.K735N(1)|p.K648N(1)	prostate(2)	breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(2203-2205)aaA>aaC		zinc finger protein 749							106.0	109.0	108.0					19																	57956721		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956721A>C	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.2205A>C	19.37:g.57956721A>C	ENSP00000333980:p.Lys735Asn		Somatic				AC004076.9_ENST00000596831.1_Intron	p.K735N	NM_001023561.2	NP_001018855.2	WXS	Illumina GAIIx	Phase_I	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	2455	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	735						Missense_Mutation	SNP	ENST00000334181.4	37	c.2205A>C	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	a	5.243	0.230386	0.09969	.	.	ENSG00000186230	ENST00000334181	T	0.03468	3.92	0.838	-0.33	0.12683	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08268	0.0206	L	0.49513	1.565	0.09310	N	1	D	0.64830	0.994	P	0.62885	0.908	T	0.30357	-0.9981	9	0.33940	T	0.23	.	4.2342	0.10618	0.4356:0.0:0.5644:0.0	.	735	O43361	ZN749_HUMAN	N	735	ENSP00000333980:K735N	ENSP00000333980:K735N	K	+	3	2	ZNF749	62648533	0.000000	0.05858	0.001000	0.08648	0.397000	0.30659	0.668000	0.25127	-0.179000	0.10654	0.255000	0.18592	AAA		0.398	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		18	89	18	89	---	---	---	---
TUBB1	81027	broad.mit.edu	37	20	57598857	57598857	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr20:57598857G>C	ENST00000217133.1	+	4	644	c.375G>C	c.(373-375)gaG>gaC	p.E125D		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	125					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.E125D(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	ACGAGAGTGAGAGCTGTGACT	0.602																																						ENST00000217133.1																			2	Substitution - Missense(2)	p.E125D(2)	prostate(2)	endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(373-375)gaG>gaC		tubulin, beta 1 class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)						91.0	99.0	96.0					20																	57598857		2203	4300	6503	SO:0001583	missense	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57598857G>C	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.375G>C	20.37:g.57598857G>C	ENSP00000217133:p.Glu125Asp		Somatic					p.E125D	NM_030773.3	NP_110400.1	WXS	Illumina GAIIx	Phase_I	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		4	644	+	all_lung(29;0.00711)		125						Missense_Mutation	SNP	ENST00000217133.1	37	c.375G>C	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245667	0.59103	.	.	ENSG00000101162	ENST00000217133	T	0.73047	-0.71	5.39	4.44	0.53790	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	T	0.82051	0.4953	M	0.81179	2.53	0.53688	D	0.99997	P	0.51057	0.941	D	0.66196	0.942	T	0.83316	-0.0020	10	0.87932	D	0	.	9.3959	0.38401	0.1619:0.0:0.8381:0.0	.	125	Q9H4B7	TBB1_HUMAN	D	125	ENSP00000217133:E125D	ENSP00000217133:E125D	E	+	3	2	TUBB1	57032252	1.000000	0.71417	0.294000	0.24946	0.784000	0.44337	4.882000	0.63121	1.287000	0.44583	0.655000	0.94253	GAG		0.602	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		19	108	19	108	---	---	---	---
PACSIN2	11252	broad.mit.edu	37	22	43267420	43267420	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr22:43267420G>A	ENST00000263246.3	-	11	1605	c.1404C>T	c.(1402-1404)cgC>cgT	p.R468R	PACSIN2_ENST00000403744.3_Silent_p.R468R|PACSIN2_ENST00000402229.1_Silent_p.R468R|PACSIN2_ENST00000337959.4_Silent_p.R427R|PACSIN2_ENST00000407585.1_Silent_p.R427R	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	468	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)	p.R468R(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CGTTGTCCAAGCGTCCCTTGC	0.622																																						ENST00000263246.3																			1	Substitution - coding silent(1)	p.R468R(1)	prostate(1)	NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(1402-1404)cgC>cgT		protein kinase C and casein kinase substrate in neurons 2							112.0	128.0	123.0					22																	43267420		2162	4269	6431	SO:0001819	synonymous_variant	11252				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity	g.chr22:43267420G>A	AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"""syndapin II"""	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.1404C>T	22.37:g.43267420G>A			Somatic				PACSIN2_ENST00000407585.1_Silent_p.R427R|PACSIN2_ENST00000403744.3_Silent_p.R468R|PACSIN2_ENST00000402229.1_Silent_p.R468R|PACSIN2_ENST00000337959.4_Silent_p.R427R	p.R468R	NM_001184970.1	NP_001171899.1	WXS	Illumina GAIIx	Phase_I	Q9UNF0	PACN2_HUMAN			11	1605	-		Glioma(61;0.222)	468			SH3.		O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Silent	SNP	ENST00000263246.3	37	c.1404C>T	CCDS43023.1																																																																																				0.622	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229		10	45	10	45	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32536160	32536160	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chrX:32536160C>T	ENST00000357033.4	-	18	2463	c.2257G>A	c.(2257-2259)Gaa>Aaa	p.E753K	DMD_ENST00000288447.4_Missense_Mutation_p.E745K|DMD_ENST00000378677.2_Missense_Mutation_p.E749K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	753					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E749K(2)|p.E748K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAGTTGCCTTCCTTCCGAAAG	0.383																																						ENST00000357033.4																			3	Substitution - Missense(3)	p.E749K(2)|p.E748K(1)	prostate(3)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(2257-2259)Gaa>Aaa		dystrophin							73.0	65.0	67.0					X																	32536160		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32536160C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2257G>A	X.37:g.32536160C>T	ENSP00000354923:p.Glu753Lys		Somatic				DMD_ENST00000378677.2_Missense_Mutation_p.E749K|DMD_ENST00000288447.4_Missense_Mutation_p.E745K	p.E753K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	WXS	Illumina GAIIx	Phase_I	P11532	DMD_HUMAN			18	2463	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	753					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.2257G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930968	0.73327	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.72505	0.71;0.71;-0.66	5.07	4.21	0.49690	.	0.251712	0.19274	U	0.118325	T	0.67804	0.2932	M	0.63428	1.95	0.80722	D	1	P;B;P;B	0.44380	0.457;0.011;0.834;0.013	B;B;B;B	0.41723	0.129;0.007;0.365;0.012	T	0.64807	-0.6320	10	0.33141	T	0.24	.	12.4582	0.55716	0.0:0.9151:0.0:0.0849	.	745;745;753;749	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	K	745;749;753;753;630;745	ENSP00000367948:E749K;ENSP00000354923:E753K;ENSP00000288447:E745K	ENSP00000288447:E745K	E	-	1	0	DMD	32446081	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	5.505000	0.66981	0.913000	0.36797	0.583000	0.79449	GAA		0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		12	18	12	18	---	---	---	---
GALNT13	114805	broad.mit.edu	37	2	155099377	155099377	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr2:155099377delA	ENST00000392825.3	+	6	1212	c.645delA	c.(643-645)ttafs	p.L215fs	GALNT13_ENST00000409237.1_Frame_Shift_Del_p.L215fs	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	215	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AATGCACGTTAGGATGGCTGG	0.473																																						ENST00000392825.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(643-645)ttafs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							82.0	77.0	78.0					2																	155099377		2203	4300	6503	SO:0001589	frameshift_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155099377delA	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.645delA	2.37:g.155099377delA	ENSP00000376570:p.Leu215fs		Somatic				GALNT13_ENST00000409237.1_Frame_Shift_Del_p.L215fs	p.L215fs	NM_052917.2	NP_443149.2	WXS	Illumina GAIIx	Phase_I	Q8IUC8	GLT13_HUMAN			6	1212	+			215			Catalytic subdomain A.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Frame_Shift_Del	DEL	ENST00000392825.3	37	c.645delA	CCDS2199.1																																																																																				0.473	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		8	51	8	51	---	---	---	---
TMPRSS11D	9407	broad.mit.edu	37	4	68719842	68719845	+	Frame_Shift_Del	DEL	ACTG	ACTG	-			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr4:68719842_68719845delACTG	ENST00000283916.6	-	3	288_291	c.190_193delCAGT	c.(190-195)cagttafs	p.QL64fs	TMPRSS11D_ENST00000545541.1_5'UTR|TMPRSS11D_ENST00000509584.1_5'UTR|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	64	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.Q64*(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGTGAATTTAACTGACTATTATAT	0.304																																						ENST00000283916.6																			1	Substitution - Nonsense(1)	p.Q64*(1)	kidney(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(190-195)cagttafs		transmembrane protease, serine 11D																																				SO:0001589	frameshift_variant	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68719842_68719845delACTG	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.190_193delCAGT	4.37:g.68719842_68719845delACTG	ENSP00000283916:p.Gln64fs		Somatic				TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_5'UTR|UBA6-AS1_ENST00000500538.2_RNA	p.QL64fs	NM_004262.2	NP_004253.1	WXS	Illumina GAIIx	Phase_I	O60235	TM11D_HUMAN			3	288_291	-			64			SEA.		Q08AF6	Frame_Shift_Del	DEL	ENST00000283916.6	37	c.190_193delCAGT	CCDS3518.1																																																																																				0.304	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		7	119	7	119	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56060635	56060635	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:56060635delT	ENST00000581208.1	-	2	193	c.153delA	c.(151-153)aaafs	p.K51fs	VEZF1_ENST00000584396.1_Frame_Shift_Del_p.K42fs	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	51					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						CACCCTGAGGTTTCTGAGTTA	0.473																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(124-126)aaafs		vascular endothelial zinc finger 1							121.0	126.0	124.0					17																	56060635		2203	4300	6503	SO:0001589	frameshift_variant	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56060635delT	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.153delA	17.37:g.56060635delT	ENSP00000462337:p.Lys51fs		Somatic				VEZF1_ENST00000581208.1_Frame_Shift_Del_p.K51fs	p.K42fs			WXS	Illumina GAIIx	Phase_I	Q14119	VEZF1_HUMAN			2	214	-			51						Frame_Shift_Del	DEL	ENST00000581208.1	37	c.126delA	CCDS32687.1																																																																																				0.473	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			7	212	7	212	---	---	---	---
ZNF333	84449	broad.mit.edu	37	19	14829233	14829251	+	Frame_Shift_Del	DEL	CCTATGCATGTAACAAATG	CCTATGCATGTAACAAATG	-	rs376718643		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:14829233_14829251delCCTATGCATGTAACAAATG	ENST00000292530.6	+	12	1185_1203	c.1094_1112delCCTATGCATGTAACAAATG	c.(1093-1113)tcctatgcatgtaacaaatgtfs	p.SYACNKC365fs	ZNF333_ENST00000536363.1_Frame_Shift_Del_p.SYACNKC256fs|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	365					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GGGGATAAATCCTATGCATGTAACAAATGTGAAAAATCC	0.438																																					NSCLC(60;75 1281 16985 25154 29885)	ENST00000292530.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						c.(1093-1113)tcctatgcatgtaacaaatgtfs		zinc finger protein 333																																				SO:0001589	frameshift_variant	84449				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:14829233_14829251delCCTATGCATGTAACAAATG		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1094_1112delCCTATGCATGTAACAAATG	19.37:g.14829233_14829251delCCTATGCATGTAACAAATG	ENSP00000292530:p.Ser365fs		Somatic				ZNF333_ENST00000536363.1_Frame_Shift_Del_p.SYACNKC256fs|ZNF333_ENST00000540689.2_Intron	p.SYACNKC365fs	NM_032433.2	NP_115809.1	WXS	Illumina GAIIx	Phase_I	Q96JL9	ZN333_HUMAN			12	1185_1203	+			365					Q6P2E6|Q86WS6|Q8TDL0	Frame_Shift_Del	DEL	ENST00000292530.6	37	c.1094_1112delCCTATGCATGTAACAAATG	CCDS12316.1																																																																																				0.438	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		8	67	8	67	---	---	---	---
