#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TANC1	85461	broad.mit.edu	37	2	160087162	160087162	+	Missense_Mutation	SNP	G	G	A	rs527832498		TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr2:160087162G>A	ENST00000263635.6	+	27	5462	c.5225G>A	c.(5224-5226)cGc>cAc	p.R1742H	TANC1_ENST00000454300.1_Missense_Mutation_p.R1636H	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1742					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCTCCAAGCCGCAGCTGGCAC	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		19402	0.001		0.0	False		,,,				2504	0.0					ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(5224-5226)cGc>cAc		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							74.0	83.0	80.0					2																	160087162		2066	4203	6269	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160087162G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.5225G>A	2.37:g.160087162G>A	ENSP00000263635:p.Arg1742His					TANC1_ENST00000454300.1_Missense_Mutation_p.R1636H	p.R1742H	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			27	5462	+			1742					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.5225G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329954	0.60743	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.78364	-1.16;-1.17	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.78451	0.4285	M	0.64997	1.995	0.54753	D	0.999982	D	0.59767	0.986	B	0.43623	0.425	T	0.78409	-0.2215	9	.	.	.	.	19.609	0.95594	0.0:0.0:1.0:0.0	.	1742	Q9C0D5	TANC1_HUMAN	H	1636;1742	ENSP00000396339:R1636H;ENSP00000263635:R1742H	.	R	+	2	0	TANC1	159795408	1.000000	0.71417	0.373000	0.26003	0.100000	0.18952	7.876000	0.87215	2.882000	0.98803	0.655000	0.94253	CGC		0.582	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			4	150	0	0	0	0.184627	0	4	150				
ARFIP2	23647	broad.mit.edu	37	11	6499070	6499070	+	Missense_Mutation	SNP	G	G	C			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr11:6499070G>C	ENST00000254584.2	-	7	831	c.748C>G	c.(748-750)Cgg>Ggg	p.R250G	ARFIP2_ENST00000396777.3_Missense_Mutation_p.R250G|ARFIP2_ENST00000423813.2_Missense_Mutation_p.R212G|ARFIP2_ENST00000445086.2_Missense_Mutation_p.R165G	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	250	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTGCATCCCGGGGGCCTAGA	0.572																																					Melanoma(119;796 1674 9049 20480 24794)	ENST00000254584.2																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15						c.(748-750)Cgg>Ggg		ADP-ribosylation factor interacting protein 2							71.0	71.0	71.0					11																	6499070		2201	4296	6497	SO:0001583	missense	23647				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding	g.chr11:6499070G>C	BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"""arfaptin 2"""	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.748C>G	11.37:g.6499070G>C	ENSP00000254584:p.Arg250Gly					ARFIP2_ENST00000445086.2_Missense_Mutation_p.R165G|ARFIP2_ENST00000423813.2_Missense_Mutation_p.R212G|ARFIP2_ENST00000396777.3_Missense_Mutation_p.R250G	p.R250G	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	7	831	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	250			AH.		B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	ENST00000254584.2	37	c.748C>G	CCDS7765.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.243019	0.58995	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000445086;ENST00000423813	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	4.74	4.74	0.60224	Arfaptin-like (3);	0.052422	0.85682	D	0.000000	D	0.86969	0.6061	M	0.75777	2.31	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.993	D;D;D	0.79784	0.993;0.94;0.985	D	0.85790	0.1367	10	0.33940	T	0.23	.	16.668	0.85258	0.0:0.0:1.0:0.0	.	283;165;250	B4DUZ3;B4E306;P53365	.;.;ARFP2_HUMAN	G	250;250;165;212	ENSP00000254584:R250G;ENSP00000379998:R250G;ENSP00000391427:R165G;ENSP00000398375:R212G	ENSP00000254584:R250G	R	-	1	2	ARFIP2	6455646	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.241000	0.72369	2.472000	0.83506	0.655000	0.94253	CGG		0.572	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402		3	123	0	0	0	0.150653	0	3	123				
PLCD3	113026	broad.mit.edu	37	17	43197710	43197710	+	Silent	SNP	G	G	A			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr17:43197710G>A	ENST00000322765.5	-	4	779	c.666C>T	c.(664-666)taC>taT	p.Y222Y	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	222	EF-hand 2.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						GGAGGTAGGCGTACATGTCGT	0.577																																						ENST00000322765.5																			0				breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						c.(664-666)taC>taT		phospholipase C, delta 3	Phosphatidylserine(DB00144)						132.0	143.0	139.0					17																	43197710		2188	4286	6474	SO:0001819	synonymous_variant	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43197710G>A	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.666C>T	17.37:g.43197710G>A						PLCD3_ENST00000540511.1_5'UTR	p.Y222Y	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN			4	779	-			222			EF-hand 2.		Q8TEC1|Q8TF37|Q96FL6	Silent	SNP	ENST00000322765.5	37	c.666C>T																																																																																					0.577	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373		3	30	0	0	0	0.115264	0	3	30				
SEMG1	6406	broad.mit.edu	37	20	43836817	43836817	+	Silent	SNP	A	A	G	rs17850164		TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr20:43836817A>G	ENST00000372781.3	+	2	936	c.879A>G	c.(877-879)acA>acG	p.T293T	SEMG1_ENST00000244069.6_Intron	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	293	2 X 60 AA tandem repeats, type 1.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.T293T(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTTCAAGTACAGAAGAAAGAC	0.383																																						ENST00000372781.3																			2	Substitution - coding silent(2)	p.T293T(2)	lung(1)|kidney(1)	cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32						c.(877-879)acA>acG		semenogelin I							67.0	64.0	65.0					20																	43836817		2203	4300	6503	SO:0001819	synonymous_variant	6406							g.chr20:43836817A>G		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.879A>G	20.37:g.43836817A>G						SEMG1_ENST00000244069.6_Intron	p.T293T	NM_003007.3	NP_002998.1					2	936	+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Silent	SNP	ENST00000372781.3	37	c.879A>G	CCDS13345.1																																																																																				0.383	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		3	61	0	0	0	0.150653	0	3	61				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		4	47	0	0	0	0.184627	0	4	47				
VCAN	1462	broad.mit.edu	37	5	82816691	82816691	+	Missense_Mutation	SNP	C	C	G			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr5:82816691C>G	ENST00000265077.3	+	7	3131	c.2566C>G	c.(2566-2568)Ctt>Gtt	p.L856V	VCAN_ENST00000512590.2_Missense_Mutation_p.L808V|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.L856V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	856	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGAATTTACTCTTATTCCAGA	0.408																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(2566-2568)Ctt>Gtt		versican							99.0	101.0	101.0					5																	82816691		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82816691C>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2566C>G	5.37:g.82816691C>G	ENSP00000265077:p.Leu856Val					VCAN_ENST00000342785.4_Missense_Mutation_p.L856V|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.L808V	p.L856V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	3131	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	856			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.2566C>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.532058	0.00145	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.19938	2.11;2.11;2.11	5.95	1.96	0.26148	.	1.078290	0.07118	N	0.843383	T	0.16342	0.0393	L	0.43152	1.355	0.09310	N	0.999999	B;B	0.18610	0.029;0.024	B;B	0.18561	0.013;0.022	T	0.36625	-0.9740	10	0.02654	T	1	.	9.2158	0.37346	0.0:0.5019:0.4202:0.0779	.	856;856	P13611-3;P13611	.;CSPG2_HUMAN	V	856;856;808	ENSP00000265077:L856V;ENSP00000342768:L856V;ENSP00000425959:L808V	ENSP00000265077:L856V	L	+	1	0	VCAN	82852447	0.001000	0.12720	0.023000	0.16930	0.146000	0.21551	0.110000	0.15437	0.380000	0.24823	0.650000	0.86243	CTT		0.408	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		40	84	0	0	0	0.847076	0	40	84				
DYNC1H1	1778	broad.mit.edu	37	14	102509075	102509075	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr14:102509075G>A	ENST00000360184.4	+	69	12667	c.12503G>A	c.(12502-12504)cGg>cAg	p.R4168Q	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4168	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCCGTCTCACGGATATGCAAG	0.577																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(12502-12504)cGg>cAg		dynein, cytoplasmic 1, heavy chain 1							100.0	75.0	83.0					14																	102509075		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102509075G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12503G>A	14.37:g.102509075G>A	ENSP00000348965:p.Arg4168Gln					RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	p.R4168Q	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			69	12667	+			4168			AAA 6 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.12503G>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473699	0.84640	.	.	ENSG00000197102	ENST00000360184	T	0.09073	3.02	6.07	6.07	0.98685	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	M	0.82132	2.575	0.80722	D	1	D	0.76494	0.999	P	0.58266	0.836	T	0.01056	-1.1466	10	0.21540	T	0.41	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	4168	Q14204	DYHC1_HUMAN	Q	4168	ENSP00000348965:R4168Q	ENSP00000348965:R4168Q	R	+	2	0	DYNC1H1	101578828	1.000000	0.71417	0.039000	0.18376	0.780000	0.44128	9.776000	0.99001	2.884000	0.98904	0.655000	0.94253	CGG		0.577	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		35	45	0	0	0	0.819951	0	35	45				
MLLT3	4300	broad.mit.edu	37	9	20414298	20414298	+	Silent	SNP	A	A	G	rs143254940	byFrequency	TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr9:20414298A>G	ENST00000380338.4	-	5	832	c.546T>C	c.(544-546)agT>agC	p.S182S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S179S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	182	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.522			T	MLL	ALL								A|||	7	0.00139776	0.0008	0.0014	5008	,	,		12006	0.0		0.005	False		,,,				2504	0.0					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(544-546)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3		A		5,4401	6.2+/-15.9	0,5,2198	41.0	49.0	46.0		546	-7.1	0.9	9	dbSNP_134	46	34,8564	15.3+/-51.7	1,32,4266	no	coding-synonymous	MLLT3	NM_004529.2		1,37,6464	GG,GA,AA		0.3954,0.1135,0.2999		182/569	20414298	39,12965	2203	4299	6502	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414298A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.546T>C	9.37:g.20414298A>G						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S179S	p.S182S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	832	-			182			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.546T>C	CCDS6494.1																																																																																				0.522	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	57	0	0	0	0.184627	0	4	57				
SLITRK1	114798	broad.mit.edu	37	13	84455509	84455509	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr13:84455509T>C	ENST00000377084.2	-	1	1019	c.134A>G	c.(133-135)aAg>aGg	p.K45R		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	45	LRRNT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.K45fs*64(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTGAAGCCCTTTTTTTCACA	0.463																																						ENST00000377084.2																			1	Deletion - Frameshift(1)	p.K45fs*64(1)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(133-135)aAg>aGg		SLIT and NTRK-like family, member 1							90.0	89.0	89.0					13																	84455509		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84455509T>C	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.134A>G	13.37:g.84455509T>C	ENSP00000366288:p.Lys45Arg						p.K45R	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1019	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	45			LRRNT.		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.134A>G	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	T	3.734	-0.054985	0.07362	.	.	ENSG00000178235	ENST00000377084	T	0.51817	0.69	4.59	4.59	0.56863	.	0.103397	0.64402	D	0.000003	T	0.26810	0.0656	N	0.10809	0.05	0.41694	D	0.989363	B	0.09022	0.002	B	0.16722	0.016	T	0.09997	-1.0649	10	0.09338	T	0.73	-14.5951	13.2304	0.59941	0.0:0.0:0.0:1.0	.	45	Q96PX8	SLIK1_HUMAN	R	45	ENSP00000366288:K45R	ENSP00000366288:K45R	K	-	2	0	SLITRK1	83353510	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.889000	0.48601	2.050000	0.60909	0.459000	0.35465	AAG		0.463	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		3	107	0	0	0	0.115264	0	3	107				
KAAG1	353219	broad.mit.edu	37	6	24358038	24358038	+	Silent	SNP	C	C	T			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr6:24358038C>T	ENST00000274766.1	+	1	908	c.171C>T	c.(169-171)tcC>tcT	p.S57S	DCDC2_ENST00000378454.3_5'UTR	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	57					immune response (GO:0006955)					central_nervous_system(1)|lung(1)|prostate(1)	3						CTCCGCTGTCCCAGCGGCCTC	0.672																																						ENST00000274766.1																			0				central_nervous_system(1)|lung(1)|prostate(1)	3						c.(169-171)tcC>tcT		kidney associated antigen 1							25.0	28.0	27.0					6																	24358038		2201	4291	6492	SO:0001819	synonymous_variant	353219				immune response			g.chr6:24358038C>T	AF181722	CCDS4551.1	6p22.1	2010-11-23			ENSG00000146049	ENSG00000146049			21031	protein-coding gene	gene with protein product		608211				10601354	Standard	NM_181337		Approved	RU2, RU2AS	uc003ndz.1	Q9UBP8	OTTHUMG00000014354	ENST00000274766.1:c.171C>T	6.37:g.24358038C>T						DCDC2_ENST00000378454.3_5'UTR	p.S57S	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN			1	908	+			57						Silent	SNP	ENST00000274766.1	37	c.171C>T	CCDS4551.1																																																																																				0.672	KAAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040001.1			5	47	0	0	0	0.184627	0	5	47				
SEC63	11231	broad.mit.edu	37	6	108230223	108230223	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr6:108230223C>T	ENST00000369002.4	-	8	820	c.641G>A	c.(640-642)cGc>cAc	p.R214H		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	214	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		GCGTATTGAGCGATACCACCA	0.363																																						ENST00000369002.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(640-642)cGc>cAc		SEC63 homolog (S. cerevisiae)							85.0	83.0	84.0					6																	108230223		2203	4300	6503	SO:0001583	missense	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108230223C>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.641G>A	6.37:g.108230223C>T	ENSP00000357998:p.Arg214His						p.R214H	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	8	820	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	214			SEC63 1.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	c.641G>A	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.499092	0.85069	.	.	ENSG00000025796	ENST00000369002;ENST00000423697;ENST00000429168	T;T	0.77620	-1.11;-0.14	5.11	5.11	0.69529	Sec63 domain (2);	0.000000	0.85682	D	0.000000	T	0.80889	0.4710	M	0.61703	1.905	0.80722	D	1	D;D	0.67145	0.996;0.971	D;P	0.65684	0.937;0.714	T	0.81788	-0.0772	10	0.49607	T	0.09	-5.7878	11.9685	0.53049	0.0:0.9204:0.0:0.0796	.	214;214	Q9UGP8;B3KQF0	SEC63_HUMAN;.	H	214;74;158	ENSP00000357998:R214H;ENSP00000403144:R158H	ENSP00000357998:R214H	R	-	2	0	SEC63	108336916	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.726000	0.68515	2.386000	0.81285	0.557000	0.71058	CGC		0.363	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		3	32	0	0	0	0.115264	0	3	32				
LRRC55	219527	broad.mit.edu	37	11	56950058	56950058	+	Missense_Mutation	SNP	C	C	G			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr11:56950058C>G	ENST00000497933.1	+	1	838	c.691C>G	c.(691-693)Ctg>Gtg	p.L231V		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	201	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCTACCGGGGCTGGTGACCCT	0.642																																						ENST00000497933.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(691-693)Ctg>Gtg		leucine rich repeat containing 55							79.0	77.0	78.0					11																	56950058		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56950058C>G		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.691C>G	11.37:g.56950058C>G	ENSP00000419542:p.Leu231Val						p.L231V	NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN			1	838	+			201			LRRCT.		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.691C>G	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652906	0.67472	.	.	ENSG00000183908	ENST00000497933	T	0.06449	3.3	5.77	4.86	0.63082	.	0.000000	0.46758	D	0.000279	T	0.33030	0.0849	M	0.92507	3.315	0.47341	D	0.999395	D	0.89917	1.0	D	0.83275	0.996	T	0.41787	-0.9489	10	0.87932	D	0	.	13.605	0.62041	0.0:0.9247:0.0:0.0753	.	201	Q6ZSA7	LRC55_HUMAN	V	231	ENSP00000419542:L231V	ENSP00000419542:L231V	L	+	1	2	LRRC55	56706634	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.803000	0.47924	1.441000	0.47550	0.561000	0.74099	CTG		0.642	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		72	138	0	0	0	0.870114	0	72	138				
CCDC15	80071	broad.mit.edu	37	11	124857495	124857495	+	Missense_Mutation	SNP	A	A	C	rs113451248	byFrequency	TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr11:124857495A>C	ENST00000344762.5	+	8	1632	c.1373A>C	c.(1372-1374)cAc>cCc	p.H458P	CCDC15_ENST00000529051.1_Missense_Mutation_p.H458P	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	458						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCACAAAGACCAA	0.418													C|||	6	0.00119808	0.0008	0.0	5008	,	,		19182	0.005		0.0	False		,,,				2504	0.0					ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1372-1374)cAc>cCc		coiled-coil domain containing 15		C	PRO/HIS	5,3679		0,5,1837	109.0	105.0	106.0		1373	-1.4	0.0	11	dbSNP_132	106	0,8170		0,0,4085	yes	missense	CCDC15	NM_025004.2	77	0,5,5922	CC,CA,AA		0.0,0.1357,0.0422	benign	458/952	124857495	5,11849	1842	4085	5927	SO:0001583	missense	80071					centrosome		g.chr11:124857495A>C	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1373A>C	11.37:g.124857495A>C	ENSP00000341684:p.His458Pro					CCDC15_ENST00000344762.5_Missense_Mutation_p.H458P	p.H458P			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1632	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	458					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.1373A>C	CCDS44756.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	0.007	-1.935858	0.00484	0.001357	0.0	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.29142	1.6;1.58	3.32	-1.4	0.08968	.	.	.	.	.	T	0.04272	0.0118	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29882	-0.9997	9	0.02654	T	1	0.0636	3.381	0.07255	0.5595:0.2054:0.1382:0.0969	.	458	Q0P6D6	CCD15_HUMAN	P	458	ENSP00000435403:H458P;ENSP00000341684:H458P	ENSP00000341684:H458P	H	+	2	0	CCDC15	124362705	.	.	0.000000	0.03702	0.085000	0.17905	.	.	-0.576000	0.05974	-0.215000	0.12644	CAC		0.418	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		4	93	0	0	0	0.150653	0	4	93				
HMOX2	3163	broad.mit.edu	37	16	4558163	4558163	+	Missense_Mutation	SNP	G	G	C			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr16:4558163G>C	ENST00000570646.1	+	4	1259	c.654G>C	c.(652-654)agG>agC	p.R218S	HMOX2_ENST00000414777.1_Missense_Mutation_p.R218S|HMOX2_ENST00000575120.1_Missense_Mutation_p.R189S|HMOX2_ENST00000458134.3_Missense_Mutation_p.R218S|HMOX2_ENST00000219700.6_Missense_Mutation_p.R218S|HMOX2_ENST00000398595.3_Missense_Mutation_p.R218S|HMOX2_ENST00000406590.2_Missense_Mutation_p.R218S	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	218					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						CCAAAGAGAGGATCGTGGAGG	0.522																																						ENST00000570646.1																			0				endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(652-654)agG>agC		heme oxygenase (decycling) 2	NADH(DB00157)						84.0	79.0	81.0					16																	4558163		2197	4300	6497	SO:0001583	missense	3163				cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding	g.chr16:4558163G>C		CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.654G>C	16.37:g.4558163G>C	ENSP00000459214:p.Arg218Ser					HMOX2_ENST00000458134.3_Missense_Mutation_p.R218S|HMOX2_ENST00000219700.6_Missense_Mutation_p.R218S|HMOX2_ENST00000575120.1_Missense_Mutation_p.R189S|HMOX2_ENST00000406590.2_Missense_Mutation_p.R218S|HMOX2_ENST00000398595.3_Missense_Mutation_p.R218S|HMOX2_ENST00000414777.1_Missense_Mutation_p.R218S	p.R218S	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN			4	1259	+			218					A8MT35|D3DUD5|I3L430|O60605	Missense_Mutation	SNP	ENST00000570646.1	37	c.654G>C	CCDS10517.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150719	0.37923	.	.	ENSG00000103415	ENST00000406590;ENST00000458134;ENST00000219700;ENST00000414777;ENST00000398595	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.57	0.912	0.19349	Haem oxygenase-like, multi-helical (2);	0.254184	0.50627	D	0.000117	T	0.20047	0.0482	L	0.37466	1.105	0.36530	D	0.870669	B;B	0.23249	0.082;0.082	B;B	0.33620	0.167;0.167	T	0.10359	-1.0633	10	0.48119	T	0.1	-6.8957	6.6766	0.23098	0.319:0.1253:0.5557:0.0	.	218;218	B3KSE0;P30519	.;HMOX2_HUMAN	S	218	ENSP00000385100:R218S;ENSP00000394103:R218S;ENSP00000219700:R218S;ENSP00000391637:R218S;ENSP00000381595:R218S	ENSP00000219700:R218S	R	+	3	2	HMOX2	4498164	1.000000	0.71417	0.643000	0.29450	0.975000	0.68041	1.731000	0.38135	0.328000	0.23435	-0.258000	0.10820	AGG		0.522	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2			29	65	0	0	0	0.729181	0	29	65				
PLXNB1	5364	broad.mit.edu	37	3	48453906	48453906	+	Missense_Mutation	SNP	G	G	C			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr3:48453906G>C	ENST00000358536.4	-	26	5247	c.4978C>G	c.(4978-4980)Ctc>Gtc	p.L1660V	PLXNB1_ENST00000358459.4_Missense_Mutation_p.L1477V|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L1477V|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L1660V|PLXNB1_ENST00000448774.2_Missense_Mutation_p.L271V|PLXNB1_ENST00000465117.1_5'Flank	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1660					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGTCACTGAGCAGAGTGCGG	0.607																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(4978-4980)Ctc>Gtc		plexin B1							69.0	65.0	66.0					3																	48453906		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48453906G>C	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.4978C>G	3.37:g.48453906G>C	ENSP00000351338:p.Leu1660Val					PLXNB1_ENST00000456774.1_Missense_Mutation_p.L1477V|PLXNB1_ENST00000448774.2_Missense_Mutation_p.L271V|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L1660V|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L1477V	p.L1660V	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	26	5247	-			1660					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.4978C>G	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177140	0.78564	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	5.03	4.16	0.48862	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.44912	0.1316	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	0.984;1.0	D;D	0.97110	0.972;1.0	T	0.50964	-0.8765	10	0.62326	D	0.03	.	12.7462	0.57283	0.0792:0.0:0.9208:0.0	.	1660;1477	O43157;O43157-2	PLXB1_HUMAN;.	V	1660;1477;1660;271;1477	ENSP00000296440:L1660V;ENSP00000351242:L1477V;ENSP00000351338:L1660V;ENSP00000389320:L271V;ENSP00000414199:L1477V	ENSP00000296440:L1660V	L	-	1	0	PLXNB1	48428910	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.503000	0.66962	1.340000	0.45581	0.551000	0.68910	CTC		0.607	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		38	113	0	0	0	0.870114	0	38	113				
ASL	435	broad.mit.edu	37	7	65557066	65557066	+	Missense_Mutation	SNP	G	G	A	rs200853731		TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr7:65557066G>A	ENST00000304874.9	+	15	1238	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	ASL_ENST00000395331.3_Missense_Mutation_p.R359H|AC068533.7_ENST00000450043.1_Silent_p.P147P|ASL_ENST00000395332.3_Missense_Mutation_p.R379H|ASL_ENST00000380839.4_Missense_Mutation_p.R353H|ASL_ENST00000464970.1_3'UTR	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	379			R -> C (in ARGINSA; dbSNP:rs28940287). {ECO:0000269|PubMed:12408190}.		arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)	p.R379L(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	TACCTGGTCCGCAAAGGGGTA	0.637																																						ENST00000304874.9																			1	Substitution - Missense(1)	p.R379L(1)	lung(1)	breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18						c.(1135-1137)cGc>cAc		argininosuccinate lyase	L-Arginine(DB00125)						95.0	92.0	93.0					7																	65557066		2203	4300	6503	SO:0001583	missense	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65557066G>A		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1136G>A	7.37:g.65557066G>A	ENSP00000307188:p.Arg379His					ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395332.3_Missense_Mutation_p.R379H|ASL_ENST00000380839.4_Missense_Mutation_p.R353H|ASL_ENST00000395331.3_Missense_Mutation_p.R359H|AC068533.7_ENST00000450043.1_Silent_p.P147P	p.R379H	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN			15	1238	+			379		R -> C (in ARGINSA; dbSNP:rs28940287).			E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	c.1136G>A	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	g	27.0	4.786704	0.90367	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	5.5	4.63	0.57726	L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.92909	0.7744	M	0.89601	3.045	0.58432	D	0.999999	P;P;B	0.42871	0.792;0.6;0.445	B;B;B	0.43838	0.433;0.077;0.102	D	0.93527	0.6866	10	0.87932	D	0	.	13.5557	0.61757	0.0753:0.0:0.9247:0.0	.	353;359;379	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	H	379;353;379;359	ENSP00000307188:R379H;ENSP00000370219:R353H;ENSP00000378741:R379H;ENSP00000378740:R359H	ENSP00000307188:R379H	R	+	2	0	ASL	65194501	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.997000	0.63921	1.327000	0.45338	0.491000	0.48974	CGC		0.637	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		5	275	0	0	0	0.248553	0	5	275				
RBM27	54439	broad.mit.edu	37	5	145649072	145649072	+	Missense_Mutation	SNP	G	G	T			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr5:145649072G>T	ENST00000265271.5	+	17	2782	c.2616G>T	c.(2614-2616)aaG>aaT	p.K872N	RBM27_ENST00000506502.1_Missense_Mutation_p.K817N	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	872					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGGAGAGAAGATCTCACAAT	0.299																																						ENST00000265271.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2614-2616)aaG>aaT		RNA binding motif protein 27							76.0	71.0	72.0					5																	145649072		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145649072G>T	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2616G>T	5.37:g.145649072G>T	ENSP00000265271:p.Lys872Asn					RBM27_ENST00000506502.1_Missense_Mutation_p.K817N	p.K872N	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	2782	+			872					Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.2616G>T	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931221	0.34096	.	.	ENSG00000091009	ENST00000265271	T	0.47528	0.84	5.78	3.69	0.42338	.	0.000000	0.85682	D	0.000000	T	0.52256	0.1723	L	0.42245	1.32	0.53688	D	0.999974	D	0.71674	0.998	D	0.76071	0.987	T	0.48559	-0.9025	10	0.18276	T	0.48	-15.821	6.5703	0.22535	0.3546:0.0:0.6454:0.0	.	872	Q9P2N5	RBM27_HUMAN	N	872	ENSP00000265271:K872N	ENSP00000265271:K872N	K	+	3	2	RBM27	145629265	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.912000	0.48782	1.452000	0.47756	0.655000	0.94253	AAG		0.299	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		3	47	1	0	0.115264	0.115264	0.132997	3	47				
WDR45B	56270	broad.mit.edu	37	17	80574465	80574465	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr17:80574465T>C	ENST00000392325.4	-	9	1057	c.863A>G	c.(862-864)aAg>aGg	p.K288R	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	288																	AACCTGAAACTTGGAGAAACT	0.493																																						ENST00000392325.4																			0											c.(862-864)aAg>aGg		WD repeat domain 45B							116.0	115.0	115.0					17																	80574465		2203	4300	6503	SO:0001583	missense	56270							g.chr17:80574465T>C	AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"""WD repeat domain containing"""	25072	protein-coding gene	gene with protein product		609226	"""WDR45-like"""	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.863A>G	17.37:g.80574465T>C	ENSP00000376139:p.Lys288Arg					WDR45B_ENST00000571835.1_5'UTR	p.K288R	NM_019613.3	NP_062559.2					9	1057	-								O95328|Q2MCP6|Q6IBN2	Missense_Mutation	SNP	ENST00000392325.4	37	c.863A>G	CCDS11815.2	.	.	.	.	.	.	.	.	.	.	T	14.06	2.423489	0.43020	.	.	ENSG00000141580	ENST00000392325;ENST00000539012	T	0.77750	-1.12	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.045892	0.85682	D	0.000000	T	0.62804	0.2458	N	0.17345	0.48	0.58432	D	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.58239	-0.7671	10	0.15066	T	0.55	-10.5632	15.1078	0.72334	0.0:0.0:0.0:1.0	.	288	Q5MNZ6	WIPI3_HUMAN	R	288;260	ENSP00000376139:K288R	ENSP00000376139:K288R	K	-	2	0	WDR45L	78167754	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.724000	0.68500	1.981000	0.57761	0.460000	0.39030	AAG		0.493	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316536.1	NM_019613		3	101	0	0	0	0.150653	0	3	101				
MYC	4609	broad.mit.edu	37	8	128752882	128752882	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr8:128752882T>C	ENST00000377970.2	+	3	1553	c.1043T>C	c.(1042-1044)cTg>cCg	p.L348P	MYC_ENST00000524013.1_Missense_Mutation_p.L347P	NM_002467.4	NP_002458	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	333					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	GTCAGAGTCCTGAGACAGATC	0.572		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""																																	ENST00000377970.2		3		Dom	yes		8	8q24.12-q24.13	4609	"""A, T"""	v-myc myelocytomatosis viral oncogene homolog (avian)			"""L, E"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""		"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(1042-1044)cTg>cCg		v-myc avian myelocytomatosis viral oncogene homolog							92.0	80.0	84.0					8																	128752882		2203	4300	6503	SO:0001583	missense	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128752882T>C		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000377970.2:c.1043T>C	8.37:g.128752882T>C	ENSP00000367207:p.Leu348Pro					MYC_ENST00000524013.1_Missense_Mutation_p.L347P	p.L348P	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	3	1553	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	333					A8WFE7|P01107|Q14026	Missense_Mutation	SNP	ENST00000377970.2	37	c.1043T>C	CCDS6359.2	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743547	0.69418	.	.	ENSG00000136997	ENST00000377970;ENST00000524013;ENST00000454617	T;T	0.21031	2.03;2.03	5.39	5.39	0.77823	Transcription regulator Myc, N-terminal (1);	0.098604	0.40818	N	0.001014	T	0.37046	0.0989	L	0.38175	1.15	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.12915	-1.0529	10	0.66056	D	0.02	-15.1244	14.5824	0.68300	0.0:0.0:0.0:1.0	.	333	P01106	MYC_HUMAN	P	348;347;314	ENSP00000367207:L348P;ENSP00000430235:L347P	ENSP00000367207:L348P	L	+	2	0	MYC	128822064	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.196000	0.77805	2.038000	0.60285	0.528000	0.53228	CTG		0.572	MYC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250277.3			3	77	0	0	0	0.115264	0	3	77				
WNK1	65125	broad.mit.edu	37	12	994570	994570	+	Missense_Mutation	SNP	C	C	G			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr12:994570C>G	ENST00000315939.6	+	19	5243	c.4600C>G	c.(4600-4602)Cat>Gat	p.H1534D	WNK1_ENST00000535572.1_Missense_Mutation_p.H1287D|WNK1_ENST00000530271.2_Missense_Mutation_p.H2032D|WNK1_ENST00000340908.4_Missense_Mutation_p.H1127D|WNK1_ENST00000537687.1_Missense_Mutation_p.H1794D	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1534					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TAAGACATCTCATAGCAGTAC	0.483																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(5380-5382)Cat>Gat		WNK lysine deficient protein kinase 1							425.0	378.0	394.0					12																	994570		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:994570C>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4600C>G	12.37:g.994570C>G	ENSP00000313059:p.His1534Asp					WNK1_ENST00000535572.1_Missense_Mutation_p.H1287D|WNK1_ENST00000340908.4_Missense_Mutation_p.H1127D|WNK1_ENST00000530271.2_Missense_Mutation_p.H2032D|WNK1_ENST00000315939.6_Missense_Mutation_p.H1534D	p.H1794D	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	6023	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1534					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.5380C>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	6.388	0.439738	0.12104	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.3	2.22	0.28083	.	0.611588	0.16305	N	0.220291	T	0.36413	0.0966	L	0.44542	1.39	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.23547	-1.0185	10	0.39692	T	0.17	-3.4467	8.0376	0.30502	0.0:0.6162:0.2443:0.1396	.	1287;1287;1534	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	D	1287;1534;1794;707;2032;1127	ENSP00000441972:H1287D;ENSP00000313059:H1534D;ENSP00000444465:H1794D;ENSP00000433548:H2032D;ENSP00000341292:H1127D	ENSP00000252477:H707D	H	+	1	0	WNK1	864831	0.001000	0.12720	0.458000	0.27068	0.330000	0.28571	0.559000	0.23485	0.695000	0.31675	0.655000	0.94253	CAT		0.483	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		7	689	0	0	0	0.361761	0	7	689				
DOCK7	85440	broad.mit.edu	37	1	63113974	63113974	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr1:63113974G>A	ENST00000340370.5	-	6	552	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C	DOCK7_ENST00000251157.5_Missense_Mutation_p.R179C|DOCK7_ENST00000404627.2_Missense_Mutation_p.R179C	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	179					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GACATTGAACGTCTTTTAAGG	0.299																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(535-537)Cgt>Tgt		dedicator of cytokinesis 7							46.0	47.0	47.0					1																	63113974		2190	4294	6484	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63113974G>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.535C>T	1.37:g.63113974G>A	ENSP00000340742:p.Arg179Cys					DOCK7_ENST00000404627.2_Missense_Mutation_p.R179C|DOCK7_ENST00000340370.5_Missense_Mutation_p.R179C	p.R179C	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			6	568	-			179					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.535C>T	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620921	0.28889	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.21361	2.42;2.42;2.01	4.53	3.56	0.40772	.	0.000000	0.85682	D	0.000000	T	0.05318	0.0141	N	0.05510	-0.035	0.80722	D	1	B;B;B;B;B	0.19706	0.038;0.018;0.012;0.021;0.023	B;B;B;B;B	0.12837	0.006;0.004;0.008;0.008;0.008	T	0.14062	-1.0486	10	0.45353	T	0.12	.	13.9696	0.64230	0.0:0.0:0.8481:0.1519	.	179;179;179;179;179	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	C	179	ENSP00000251157:R179C;ENSP00000340742:R179C;ENSP00000384446:R179C	ENSP00000251157:R179C	R	-	1	0	DOCK7	62886562	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.770000	0.47662	2.333000	0.79357	0.462000	0.41574	CGT		0.299	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		25	74	0	0	0	0.740014	0	25	74				
RIMS2	9699	broad.mit.edu	37	8	105261745	105261745	+	Missense_Mutation	SNP	A	A	G			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr8:105261745A>G	ENST00000436393.2	+	26	3915	c.3674A>G	c.(3673-3675)aAg>aGg	p.K1225R	RIMS2_ENST00000406091.3_Missense_Mutation_p.K1207R|RIMS2_ENST00000339750.2_Missense_Mutation_p.K143R|RIMS2_ENST00000507740.1_Missense_Mutation_p.K1021R|RIMS2_ENST00000262231.10_Missense_Mutation_p.K1046R			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1269					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATGGACAAAAAGGGACAGCTG	0.403										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(3061-3063)aAg>aGg		regulating synaptic membrane exocytosis 2							72.0	75.0	74.0					8																	105261745		1864	4087	5951	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105261745A>G	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3674A>G	8.37:g.105261745A>G	ENSP00000390665:p.Lys1225Arg	HNSCC(12;0.0054)				RIMS2_ENST00000436393.2_Missense_Mutation_p.K1225R|RIMS2_ENST00000339750.2_Missense_Mutation_p.K143R|RIMS2_ENST00000262231.10_Missense_Mutation_p.K1046R|RIMS2_ENST00000406091.3_Missense_Mutation_p.K1207R	p.K1021R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		20	3298	+			1269					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3062A>G		.	.	.	.	.	.	.	.	.	.	A	25.6	4.654243	0.88056	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;0.99;-1.01;-1.01;-1.01	5.6	5.6	0.85130	C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.80768	0.4686	L	0.28192	0.835	0.80722	D	1	P;P;B;D;D	0.53312	0.709;0.839;0.287;0.959;0.959	B;P;P;D;D	0.67382	0.284;0.836;0.651;0.951;0.951	T	0.80589	-0.1315	9	0.38643	T	0.18	.	15.7857	0.78300	1.0:0.0:0.0:0.0	.	1269;1225;1046;1021;1207	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	R	1244;1207;1269;1046;1021;1214;1225;143;143	ENSP00000384892:K1207R;ENSP00000262231:K1046R;ENSP00000423559:K1021R;ENSP00000386228:K1214R;ENSP00000390665:K1225R;ENSP00000428478:K143R;ENSP00000342051:K143R	ENSP00000262231:K1046R	K	+	2	0	RIMS2	105330921	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.306000	0.78905	2.142000	0.66516	0.528000	0.53228	AAG		0.403	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		3	81	0	0	0	0.115264	0	3	81				
ZNF761	388561	broad.mit.edu	37	19	53958910	53958910	+	RNA	SNP	A	A	G			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr19:53958910A>G	ENST00000454407.1	+	0	1602							Q86XN6	ZN761_HUMAN	zinc finger protein 761						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.K329K(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AACCCTACAAATGTAATGAGT	0.413																																						ENST00000454407.1																			1	Substitution - coding silent(1)	p.K329K(1)	endometrium(1)	endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							156.0	156.0	156.0					19																	53958910		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958910A>G	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958910A>G										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	1602	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.413	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		4	293	0	0	0	0.278610	0	4	293				
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139094365	139094366	+	Frame_Shift_Del	DEL	AG	AG	-	rs368249579	byFrequency	TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr7:139094365_139094366delAG	ENST00000354926.4	+	7	1098_1099	c.744_745delAG	c.(742-747)gaagagfs	p.EE248fs	C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs|LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		AACGAAGAGAAGAGAGAGAGAG	0.391														64	0.0127796	0.028	0.0014	5008	,	,		16418	0.004		0.002	False		,,,				2504	0.0204					ENST00000354926.4																			0											c.(742-747)gaagfs						136,3410		1,134,1638						5.1	1.0			34	290,7544		0,290,3627	no	frameshift	LUC7L2	NM_016019.3		1,424,5265	A1A1,A1R,RR		3.7018,3.8353,3.7434				426,10954				SO:0001589	frameshift_variant	0							g.chr7:139094365_139094366delAG		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.744_745delAG	7.37:g.139094375_139094376delAG	ENSP00000347005:p.Glu248fs					C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs|C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs	p.EE248fs	NM_016019.3	NP_057103.2					7	1098_1099	+									Frame_Shift_Del	DEL	ENST00000354926.4	37	c.744_745delAG	CCDS43656.1																																																																																				0.391	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2			10	46						10	46	---	---	---	---
PDZD7	79955	broad.mit.edu	37	10	102778754	102778754	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr10:102778754delC	ENST00000370215.3	-	8	1374	c.1149delG	c.(1147-1149)tggfs	p.W383fs		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	383						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GCACGCTGCACCAGGTCTCCA	0.741											OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000370215.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1147-1149)tgfs		PDZ domain containing 7							9.0	12.0	11.0					10																	102778754		2169	4257	6426	SO:0001589	frameshift_variant	79955					cilium|nucleus	protein binding	g.chr10:102778754delC	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.1149delG	10.37:g.102778754delC	ENSP00000359234:p.Trp383fs		OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1369		p.W383fs	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	8	1374	-			383					D5FJ77|Q8N321	Frame_Shift_Del	DEL	ENST00000370215.3	37	c.1149delG	CCDS31269.1																																																																																				0.741	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		2	4						2	4	---	---	---	---
CAPN1	823	broad.mit.edu	37	11	64949149	64949150	+	Intron	INS	-	-	C			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr11:64949149_64949150insC	ENST00000533820.1	+	1	217				CAPN1_ENST00000524773.1_5'Flank|AP003068.23_ENST00000526623.1_Start_Codon_Ins|CAPN1_ENST00000279247.6_5'Flank|CAPN1_ENST00000527323.1_5'Flank|CAPN1_ENST00000533129.1_5'Flank	NM_001198868.1	NP_001185797.1	P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		agcccccccatccccccccgcg	0.718																																						ENST00000526623.1																			0																																																	SO:0001627	intron_variant	0							g.chr11:64949149_64949150insC	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000533820.1:c.-2+268->C	11.37:g.64949157_64949157dupC						CAPN1_ENST00000533820.1_Intron								0	155_156	-								Q2TTR0|Q6DHV4	Translation_Start_Site	INS	ENST00000533820.1	37		CCDS44644.1																																																																																				0.718	CAPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385306.1			2	4						2	4	---	---	---	---
RP11-867G2.8	0	broad.mit.edu	37	11	94373825	94373827	+	RNA	DEL	ACC	ACC	-	rs112219584|rs67430550	byFrequency	TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr11:94373825_94373827delACC	ENST00000536540.1	-	0	437				RP11-867G2.6_ENST00000544019.1_lincRNA|RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.5_ENST00000438416.2_lincRNA																							tgcttggaagaccaccaccacca	0.557														1971	0.39357	0.4448	0.428	5008	,	,		8367	0.3343		0.3708	False		,,,				2504	0.3845					ENST00000536540.1																			0																																																			0							g.chr11:94373825_94373827delACC																													11.37:g.94373834_94373836delACC						RP11-867G2.5_ENST00000438416.2_lincRNA|RP11-867G2.8_ENST00000537874.1_RNA								0	437	-									RNA	DEL	ENST00000536540.1	37																																																																																						0.557	RP11-867G2.8-001	KNOWN	basic	antisense	antisense	OTTHUMT00000396436.1			3	5						3	5	---	---	---	---
SOX21	11166	broad.mit.edu	37	13	95363807	95363809	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr13:95363807_95363809delGCG	ENST00000376945.2	-	1	580_582	c.495_497delCGC	c.(493-498)gccgcg>gcg	p.165_166AA>A	SOX21-AS1_ENST00000438290.2_lincRNA	NM_007084.2	NP_009015.1	Q9Y651	SOX21_HUMAN	SRY (sex determining region Y)-box 21	165					hair follicle development (GO:0001942)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6	all_neural(89;0.0646)|Medulloblastoma(90;0.163)					GGGGCTGCCCgcggcggcggcgg	0.759																																						ENST00000376945.2																			0				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						c.(493-498)gcg>gc		SRY (sex determining region Y)-box 21				19,1083		6,7,538						-1.7	0.8			3	54,2402		9,36,1183	no	coding	SOX21	NM_007084.2		15,43,1721	A1A1,A1R,RR		2.1987,1.7241,2.0517				73,3485				SO:0001651	inframe_deletion	11166				regulation of transcription from RNA polymerase II promoter|stem cell differentiation	nucleus	DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr13:95363807_95363809delGCG	AF107044	CCDS9473.1	13q31-q32	2008-07-18			ENSG00000125285	ENSG00000125285		"""SRY (sex determining region Y)-boxes"""	11197	protein-coding gene	gene with protein product	"""SRY-box 21"""	604974				10441749	Standard	NM_007084		Approved	SOX25	uc001vma.3	Q9Y651	OTTHUMG00000017209	ENST00000376945.2:c.495_497delCGC	13.37:g.95363816_95363818delGCG	ENSP00000366144:p.Ala166del						p.AA165del	NM_007084.2	NP_009015.1	Q9Y651	SOX21_HUMAN			1	580_582	-	all_neural(89;0.0646)|Medulloblastoma(90;0.163)		165					P35715|Q15504|Q5TBS1	In_Frame_Del	DEL	ENST00000376945.2	37	c.495_497delCGC	CCDS9473.1																																																																																				0.759	SOX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045467.4	NM_007084		2	4						2	4	---	---	---	---
CTD-2033D24.2	0	broad.mit.edu	37	17	53627633	53627633	+	RNA	DEL	T	T	-			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr17:53627633delT	ENST00000455347.1	-	0	135				RNU6-1249P_ENST00000363237.1_RNA																							TGATTGTCTCTTTTTTTTACC	0.373																																						ENST00000455347.1																			0																																																			0							g.chr17:53627633delT																													17.37:g.53627633delT														0	135	-									RNA	DEL	ENST00000455347.1	37																																																																																						0.373	CTD-2033D24.2-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000439262.1			4	8						4	8	---	---	---	---
CLIC6	54102	broad.mit.edu	37	21	36042463	36042492	+	In_Frame_Del	DEL	GCGTAGAAGCGGGGGTCCCGGCGGGGGACA	GCGTAGAAGCGGGGGTCCCGGCGGGGGACA	-	rs557556798|rs548102329|rs13049745|rs369616665|rs62213790|rs13048804	byFrequency	TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr21:36042463_36042492delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	ENST00000360731.3	+	1	776_805	c.776_805delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	c.(775-807)ggcgtagaagcgggggtcccggcgggggacagc>ggc	p.VEAGVPAGDS260del	CLIC6_ENST00000349499.2_In_Frame_Del_p.VEAGVPAGDS260del			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	260	13 X 10 AA tandem repeat of G-D-[SNG]- [VIM]-[DEQ]-A-[EAG]-[GDVE]-[PRG]-[LAVP].					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)	p.S269G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GCGGGGGACGGCGTAGAAGCGGGGGTCCCGGCGGGGGACAGCGTAGAAGC	0.761														964	0.192492	0.1551	0.1599	5008	,	,		8557	0.1835		0.2127	False		,,,				2504	0.2546					ENST00000360731.3																			1	Substitution - Missense(1)	p.S269G(1)	central_nervous_system(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(775-807)ggc>g		chloride intracellular channel 6				159,961		56,47,457						2.8	0.0		dbSNP_130	2	659,2423		241,177,1123	no	coding	CLIC6	NM_053277.1		297,224,1580	A1A1,A1R,RR		21.3822,14.1964,19.4669				818,3384				SO:0001651	inframe_deletion	54102					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	g.chr21:36042463_36042492delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.776_805delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	21.37:g.36042463_36042492delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	ENSP00000353959:p.Val260_Ser269del					CLIC6_ENST00000349499.2_In_Frame_Del_p.GVEAGVPAGDS259del	p.GVEAGVPAGDS259del			Q96NY7	CLIC6_HUMAN			1	776_805	+			259			13 X 10 AA tandem repeat of G-D-[SNG]- [VIM]-[DEQ]-A-[EAG]-[GDVE]-[PRG]-[LAVP].		A8K0U8|Q8IX31	In_Frame_Del	DEL	ENST00000360731.3	37	c.776_805delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA																																																																																					0.761	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			2	4						2	4	---	---	---	---
