#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
MYOM3	127294	broad.mit.edu	37	1	24383949	24383949	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr1:24383949C>T	ENST00000374434.3	-	37	4381	c.4219G>A	c.(4219-4221)Gtc>Atc	p.V1407I	MYOM3_ENST00000330966.7_Missense_Mutation_p.V1410I|MYOM3_ENST00000338909.5_Missense_Mutation_p.V300I|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1407	Ig-like C2-type 4.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TTGACGAAGACGCCGTAGCGG	0.577																																						uc001bin.4																			0		p.G1406G(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(4219-4221)Gtc>Atc		Homo sapiens myomesin family, member 3 (MYOM3), mRNA.							90.0	94.0	93.0					1																	24383949		2052	4185	6237	SO:0001583	missense	127294							g.chr1:24383949C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.4219G>A	1.37:g.24383949C>T	ENSP00000363557:p.Val1407Ile					MYOM3_uc001bil.4_Missense_Mutation_p.V300I|MYOM3_uc001bim.4_Missense_Mutation_p.V1064I	p.V1407I	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	36	4382	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1407			Ig-like C2-type 4.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.4219G>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	0.342	-0.950161	0.02285	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.41758	0.99;0.99;0.99	5.24	1.87	0.25490	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.270219	0.34268	N	0.004108	T	0.17916	0.0430	N	0.11154	0.105	0.80722	D	1	B;B	0.20164	0.008;0.042	B;B	0.20184	0.01;0.028	T	0.05666	-1.0871	10	0.10902	T	0.67	.	5.5888	0.17289	0.0:0.3488:0.0:0.6512	.	1407;300	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	I	300;1407;1410;301	ENSP00000342689:V300I;ENSP00000363557:V1407I;ENSP00000332670:V1410I	ENSP00000332670:V1410I	V	-	1	0	MYOM3	24256536	0.994000	0.37717	0.408000	0.26446	0.146000	0.21551	2.482000	0.45224	0.565000	0.29255	0.655000	0.94253	GTC		0.577	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		10	48	0	0	0	1	0	10	48				
NBEAP1	606	broad.mit.edu	37	15	20876449	20876449	+	RNA	SNP	G	G	A			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr15:20876449G>A	ENST00000556948.1	-	0	151							P0C6P0	BCL8_HUMAN	neurobeachin pseudogene 1																		TACCTTTGCAGGTGTATGTAT	0.333																																						uc010tze.1																			0											c.(163-165)cCt>cTt		Homo sapiens neurobeachin pseudogene 1 (NBEAP1), non-coding RNA.																																						606							g.chr15:20876449G>A			15q11.2	2014-03-20	2011-05-03	2011-05-03	ENSG00000258590	ENSG00000258590			1007	pseudogene	pseudogene		601889	"""B-cell CLL/lymphoma 8"""	BCL8		9159141	Standard	NR_027992		Approved	BCL8A	uc010tze.1	P0C6P0	OTTHUMG00000171717		15.37:g.20876449G>A						NBEAP1_uc010tzd.2_Non-coding_Transcript	p.P55L							1	371	-									Missense_Mutation	SNP	ENST00000556948.1	37	c.164C>T																																																																																					0.333	NBEAP1-002	KNOWN	not_best_in_genome_evidence|basic	retained_intron	pseudogene	OTTHUMT00000414853.1	NR_027992		4	32	0	0	0	1	0	4	32				
PTPRS	5802	broad.mit.edu	37	19	5244253	5244253	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr19:5244253T>C	ENST00000587303.1	-	10	1328	c.1229A>G	c.(1228-1230)cAg>cGg	p.Q410R	PTPRS_ENST00000588012.1_Missense_Mutation_p.Q397R|PTPRS_ENST00000353284.2_Missense_Mutation_p.Q397R|PTPRS_ENST00000262963.6_Missense_Mutation_p.Q406R|PTPRS_ENST00000592099.1_Missense_Mutation_p.Q397R|PTPRS_ENST00000372412.4_Missense_Mutation_p.Q411R|PTPRS_ENST00000348075.2_Missense_Mutation_p.Q397R|PTPRS_ENST00000357368.4_Missense_Mutation_p.Q410R|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	410	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGGGGGCCCCTGGCCGATGGA	0.672																																						uc002mbv.3																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(1228-1230)cAg>cGg		Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.							40.0	39.0	39.0					19																	5244253		2202	4300	6502	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5244253T>C	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1229A>G	19.37:g.5244253T>C	ENSP00000467537:p.Gln410Arg					PTPRS_uc002mbu.1_Missense_Mutation_p.Q397R|PTPRS_uc010xin.2_Missense_Mutation_p.Q397R|PTPRS_uc002mbw.3_Missense_Mutation_p.Q397R|PTPRS_uc002mbx.3_Missense_Mutation_p.Q401R|PTPRS_uc002mby.3_Missense_Mutation_p.Q397R	p.Q410R	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	10	1463	-			410			Fibronectin type-III 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.1229A>G	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	T	2.336	-0.352355	0.05173	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	3.93	3.93	0.45458	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.088729	0.44688	U	0.000423	T	0.35128	0.0921	N	0.04162	-0.26	0.20975	N	0.999815	B;B;P;B;B;P	0.48407	0.001;0.0;0.713;0.008;0.41;0.91	B;B;B;B;B;P	0.51657	0.011;0.003;0.444;0.007;0.401;0.676	T	0.32903	-0.9889	10	0.02654	T	1	.	12.9488	0.58388	0.0:0.0:0.0:1.0	.	410;397;401;397;410;423	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	R	423;411;410;410;410;406;397;410;401;397	ENSP00000361489:Q411R;ENSP00000349932:Q410R;ENSP00000262963:Q406R;ENSP00000269907:Q397R;ENSP00000327313:Q397R	ENSP00000262963:Q406R	Q	-	2	0	PTPRS	5195253	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	6.024000	0.70857	1.669000	0.50854	0.379000	0.24179	CAG		0.672	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			25	37	0	0	0	1	0	25	37				
POLR3B	55703	broad.mit.edu	37	12	106903265	106903265	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr12:106903265T>A	ENST00000228347.4	+	28	3562	c.3340T>A	c.(3340-3342)Ttc>Atc	p.F1114I	RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Missense_Mutation_p.F1056I	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1114					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CAAGCTGCTCTTCCAGGAACT	0.443																																						uc001tlp.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(3340-3342)Ttc>Atc		Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.							164.0	137.0	146.0					12																	106903265		2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106903265T>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.3340T>A	12.37:g.106903265T>A	ENSP00000228347:p.Phe1114Ile					LOC100287944_uc021rdg.1_Intron|POLR3B_uc001tlq.3_Missense_Mutation_p.F1056I	p.F1114I	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN			27	3562	+			1114					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.3340T>A	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.875788	0.72180	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.76186	-1.0;-1.0	5.57	5.57	0.84162	RNA polymerase Rpb2, domain 7 (1);	0.000000	0.85682	D	0.000000	T	0.71256	0.3318	L	0.33624	1.015	0.80722	D	1	B	0.25850	0.136	B	0.37888	0.26	T	0.69390	-0.5158	10	0.45353	T	0.12	-20.9796	15.742	0.77905	0.0:0.0:0.0:1.0	.	1114	Q9NW08	RPC2_HUMAN	I	1114;1056	ENSP00000228347:F1114I;ENSP00000445721:F1056I	ENSP00000228347:F1114I	F	+	1	0	POLR3B	105427395	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.126000	0.65437	0.533000	0.62120	TTC		0.443	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		36	59	0	0	0	1	0	36	59				
CAPN13	92291	broad.mit.edu	37	2	30966369	30966369	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr2:30966369C>T	ENST00000295055.8	-	13	1501	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	CAPN13_ENST00000534090.2_Missense_Mutation_p.R442H	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	442					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAAGTTGCGGCGGAATTTATT	0.463																																						uc021vfn.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(1324-1326)cGc>cAc		Homo sapiens calpain 13 (CAPN13), mRNA.							211.0	202.0	205.0					2																	30966369		1866	4108	5974	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30966369C>T		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1325G>A	2.37:g.30966369C>T	ENSP00000295055:p.Arg442His					CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.R438H|CAPN13_uc002rno.3_5'UTR	p.R442H	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			11	1357	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		442					Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.1325G>A	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687947	0.29962	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.87412	-2.25;-2.25	5.52	-1.17	0.09648	Peptidase C2, calpain, large subunit, domain III (2);	1.383140	0.04630	N	0.403459	T	0.68495	0.3007	N	0.03608	-0.345	0.09310	N	1	B	0.21147	0.052	B	0.15052	0.012	T	0.58183	-0.7681	10	0.44086	T	0.13	.	1.6142	0.02700	0.1257:0.2197:0.1441:0.5105	.	442	Q6MZZ7	CAN13_HUMAN	H	442	ENSP00000295055:R442H;ENSP00000431298:R442H	ENSP00000295055:R442H	R	-	2	0	CAPN13	30819873	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.189000	0.09629	0.067000	0.16545	-0.459000	0.05422	CGC		0.463	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		70	121	0	0	0	1	0	70	121				
ANKMY2	57037	broad.mit.edu	37	7	16649339	16649339	+	Silent	SNP	G	G	A			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr7:16649339G>A	ENST00000306999.2	-	7	1041	c.798C>T	c.(796-798)atC>atT	p.I266I		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	266						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTTCTCTAATGATCTTTTCTT	0.393																																						uc003sti.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(796-798)atC>atT		Homo sapiens ankyrin repeat and MYND domain containing 2 (ANKMY2), mRNA.							106.0	107.0	107.0					7																	16649339		2203	4300	6503	SO:0001819	synonymous_variant	57037					cilium	zinc ion binding	g.chr7:16649339G>A	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.798C>T	7.37:g.16649339G>A						ANKMY2_uc010ktz.3_Non-coding_Transcript	p.I266I	NM_020319	NP_064715	Q8IV38	ANKY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	6	1042	-	Lung NSC(10;0.103)|all_lung(11;0.204)		266					A4D124|Q659G1|Q96BL3	Silent	SNP	ENST00000306999.2	37	c.798C>T	CCDS5361.1																																																																																				0.393	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		9	66	0	0	0	1	0	9	66				
PIGZ	80235	broad.mit.edu	37	3	196674504	196674504	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr3:196674504G>A	ENST00000412723.1	-	3	1410	c.1264C>T	c.(1264-1266)Ctc>Ttc	p.L422F		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	422					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		AGGGCACCGAGGGCGTTGAAG	0.652																																						uc003fxh.3																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14						c.(1264-1266)Ctc>Ttc		Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA.							43.0	43.0	43.0					3																	196674504		2203	4300	6503	SO:0001583	missense	80235				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr3:196674504G>A	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	30596	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 4"", ""dol-P-Man dependent GPI mannosyltransferase"""	611671	"""phosphatidylinositol glycan, class Z"""			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.1264C>T	3.37:g.196674504G>A	ENSP00000413405:p.Leu422Phe						p.L422F	NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	2	1411	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		422					Q9H9G6	Missense_Mutation	SNP	ENST00000412723.1	37	c.1264C>T	CCDS3324.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.242790	0.22796	.	.	ENSG00000119227	ENST00000412723	T	0.63417	-0.04	5.0	3.06	0.35304	.	0.197104	0.25310	N	0.031583	T	0.68723	0.3032	L	0.59436	1.845	0.18873	N	0.999982	D	0.63880	0.993	D	0.63877	0.919	T	0.56553	-0.7960	10	0.42905	T	0.14	-6.9908	7.211	0.25933	0.1592:0.1405:0.7003:0.0	.	422	Q86VD9	PIGZ_HUMAN	F	422	ENSP00000413405:L422F	ENSP00000413405:L422F	L	-	1	0	PIGZ	198158901	0.365000	0.25006	0.029000	0.17559	0.186000	0.23388	1.341000	0.33907	1.219000	0.43474	0.561000	0.74099	CTC		0.652	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		7	29	0	0	0	1	0	7	29				
TG	7038	broad.mit.edu	37	8	133935654	133935654	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr8:133935654A>G	ENST00000220616.4	+	22	4640	c.4600A>G	c.(4600-4602)Aag>Gag	p.K1534E	TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1534	Thyroglobulin type-1 11. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCCAGCCAGAAGGACAGGGG	0.572																																						uc003ytw.3																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4600-4602)Aag>Gag		Homo sapiens thyroglobulin (TG), mRNA.							92.0	85.0	87.0					8																	133935654		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133935654A>G	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4600A>G	8.37:g.133935654A>G	ENSP00000220616:p.Lys1534Glu					TG_uc010mdw.3_Missense_Mutation_p.K293E|TG_uc011ljb.2_5'UTR|TG_uc003ytx.1_Intron	p.K1534E	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	21	4641	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1534			Thyroglobulin type-1 11.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.4600A>G	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.297|6.297	0.422924|0.422924	0.11928|0.11928	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000543313;ENST00000220616	.|D	.|0.82344	.|-1.6	4.84|4.84	3.65|3.65	0.41850|0.41850	.|Thyroglobulin type-1 (5);	.|0.791890	.|0.11393	.|N	.|0.568605	T|T	0.74642|0.74642	0.3743|0.3743	L|L	0.33485|0.33485	1.01|1.01	0.58432|0.58432	D|D	0.999995|0.999995	.|B	.|0.17038	.|0.02	.|B	.|0.19148	.|0.024	T|T	0.67503|0.67503	-0.5654|-0.5654	5|10	.|0.72032	.|D	.|0.01	.|.	7.7537|7.7537	0.28911|0.28911	0.8135:0.0:0.0:0.1865|0.8135:0.0:0.0:0.1865	.|.	.|1534	.|P01266	.|THYG_HUMAN	G|E	53|340;1534	.|ENSP00000220616:K1534E	.|ENSP00000220616:K1534E	E|K	+|+	2|1	0|0	TG|TG	134004836|134004836	0.379000|0.379000	0.25123|0.25123	0.797000|0.797000	0.32132|0.32132	0.043000|0.043000	0.13939|0.13939	0.251000|0.251000	0.18257|0.18257	0.683000|0.683000	0.31428|0.31428	-0.509000|-0.509000	0.04479|0.04479	GAA|AAG		0.572	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		6	55	0	0	0	1	0	6	55				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524	NP_002515	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		72	113	0	0	0	1	0	72	113				
NRXN1	9378	broad.mit.edu	37	2	51254683	51254683	+	Silent	SNP	G	G	A			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr2:51254683G>A	ENST00000406316.2	-	2	2205	c.729C>T	c.(727-729)tgC>tgT	p.C243C	NRXN1_ENST00000405472.3_Silent_p.C243C|NRXN1_ENST00000405581.1_Silent_p.C243C|NRXN1_ENST00000406859.3_Silent_p.C243C|NRXN1_ENST00000404971.1_Silent_p.C243C|NRXN1_ENST00000402717.3_Silent_p.C243C|NRXN1_ENST00000401669.2_Silent_p.C243C	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	243	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCGAGCAGTCGCACACGGCCT	0.751																																						uc021vhg.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(727-729)tgC>tgT		Homo sapiens neurexin 1 (NRXN1), transcript variant alpha2, mRNA.							15.0	19.0	18.0					2																	51254683		2120	4211	6331	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51254683G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.729C>T	2.37:g.51254683G>A						NRXN1_uc021vhh.1_Silent_p.C243C|NRXN1_uc021vhi.1_Silent_p.C243C|NRXN1_uc021vhj.1_Silent_p.C243C|NRXN1_uc021vhk.1_Silent_p.C243C	p.C243C	NM_001135659	NP_001129131	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		0	1650	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	243			EGF-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.729C>T	CCDS54360.1																																																																																				0.751	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			3	21	0	0	0	1	0	3	21				
LYST	1130	broad.mit.edu	37	1	235920719	235920719	+	Silent	SNP	T	T	C	rs544394700		TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr1:235920719T>C	ENST00000389794.3	-	24	7095	c.6921A>G	c.(6919-6921)ttA>ttG	p.L2307L	LYST_ENST00000389793.2_Silent_p.L2307L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2307					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGAGTTCATATAATCCACAGC	0.373													T|||	1	0.000199681	0.0008	0.0	5008	,	,		16175	0.0		0.0	False		,,,				2504	0.0					uc001hxj.2																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(6919-6921)ttA>ttG		Homo sapiens lysosomal trafficking regulator (LYST), mRNA.							126.0	124.0	125.0					1																	235920719		2203	4300	6503	SO:0001819	synonymous_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235920719T>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6921A>G	1.37:g.235920719T>C							p.L2307L	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		23	7096	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2307					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.6921A>G	CCDS31062.1																																																																																				0.373	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			30	54	0	0	0	1	0	30	54				
HEATR9	256957	broad.mit.edu	37	17	34185530	34185530	+	Splice_Site	SNP	C	C	T			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr17:34185530C>T	ENST00000311880.2	-	10	1088		c.e10-1		C17orf66_ENST00000592980.1_Splice_Site	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN							hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCCTAAGTGCCTATGAGGGGG	0.562																																						uc002hke.1																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38						c.e10-1		Homo sapiens chromosome 17 open reading frame 66 (C17orf66), mRNA.							70.0	48.0	55.0					17																	34185530		2203	4300	6503	SO:0001630	splice_region_variant	256957						binding	g.chr17:34185530C>T																												ENST00000311880.2:c.940-1G>A	17.37:g.34185530C>T						C17orf66_uc010wck.1_Splice_Site|C17orf66_uc010wcl.1_Splice_Site_p.A274_splice|C17orf66_uc010wcm.1_Splice_Site_p.A280_splice	p.A314_splice	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	10	1089	-		Ovarian(249;0.17)	314					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Splice_Site	SNP	ENST00000311880.2	37	c.940_splice	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	c	12.12	1.843139	0.32606	.	.	ENSG00000172653	ENST00000311880	.	.	.	4.02	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8297	0.52288	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C17orf66	31209643	1.000000	0.71417	0.925000	0.36789	0.370000	0.29829	3.197000	0.51028	2.235000	0.73313	0.305000	0.20034	.		0.562	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1		Intron	11	21	0	0	0	1	0	11	21				
TULP4	56995	broad.mit.edu	37	6	158910761	158910761	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr6:158910761C>T	ENST00000367097.3	+	9	2985	c.1628C>T	c.(1627-1629)cCa>cTa	p.P543L	TULP4_ENST00000367094.2_Missense_Mutation_p.P543L	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	543					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCAAACTCCCAAGGTAATCT	0.478																																						uc003qrf.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1627-1629)cCa>cTa		Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.							115.0	104.0	108.0					6																	158910761		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158910761C>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1628C>T	6.37:g.158910761C>T	ENSP00000356064:p.Pro543Leu					TULP4_uc003qrg.3_Missense_Mutation_p.P543L	p.P543L	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	8	2985	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	543					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.1628C>T	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285665	0.80803	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.61859	0.07;0.91	5.57	5.57	0.84162	Tubby, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	L	0.40543	1.245	0.80722	D	1	B;B	0.30511	0.0;0.282	B;B	0.27076	0.003;0.076	T	0.43782	-0.9370	10	0.59425	D	0.04	-12.9817	19.5417	0.95277	0.0:1.0:0.0:0.0	.	543;543	Q9NRJ4-2;Q9NRJ4	.;TULP4_HUMAN	L	543	ENSP00000356064:P543L;ENSP00000356061:P543L	ENSP00000356061:P543L	P	+	2	0	TULP4	158830749	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.340000	0.79292	2.614000	0.88457	0.655000	0.94253	CCA		0.478	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		8	57	0	0	0	1	0	8	57				
ERCC6	2074	broad.mit.edu	37	10	50732508	50732508	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr10:50732508T>C	ENST00000355832.5	-	5	1046	c.968A>G	c.(967-969)aAa>aGa	p.K323R	ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.K323R|PGBD3_ENST00000374127.3_5'Flank|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.K323R|PGBD3_ENST00000603152.1_Missense_Mutation_p.K323R	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	323					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTCCTCTTTTTTGGACAGAAC	0.473								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001jhs.4																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(967-969)aAa>aGa	Direct reversal of damage;Nucleotide excision repair (NER)	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.							134.0	131.0	132.0					10																	50732508		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding	g.chr10:50732508T>C	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.968A>G	10.37:g.50732508T>C	ENSP00000348089:p.Lys323Arg					ERCC6_uc001jht.3_5'UTR|ERCC6_uc009xoe.3_Missense_Mutation_p.K323R|ERCC6_uc001jhu.3_Missense_Mutation_p.K323R	p.K323R	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			4	1122	-			323					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.968A>G	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.861715	0.51482	.	.	ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000515869;ENST00000447839	D;T;T	0.84070	-1.8;3.19;3.19	6.03	0.698	0.18087	.	.	.	.	.	T	0.75347	0.3837	L	0.60455	1.87	0.09310	N	1	B;B	0.30824	0.296;0.006	B;B	0.19946	0.027;0.003	T	0.58470	-0.7631	9	0.32370	T	0.25	-9.4602	8.7255	0.34467	0.0:0.327:0.0:0.673	.	323;323	E7EV46;Q03468	.;ERCC6_HUMAN	R	323	ENSP00000348089:K323R;ENSP00000423550:K323R;ENSP00000387966:K323R	ENSP00000348089:K323R	K	-	2	0	ERCC6;RP11-123B3.6	50402514	0.005000	0.15991	0.000000	0.03702	0.638000	0.38207	0.663000	0.25053	-0.119000	0.11830	0.533000	0.62120	AAA		0.473	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		47	79	0	0	0	1	0	47	79				
NBEAP1	606	broad.mit.edu	37	15	20876446	20876446	+	RNA	SNP	G	G	A			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr15:20876446G>A	ENST00000556948.1	-	0	154							P0C6P0	BCL8_HUMAN	neurobeachin pseudogene 1																		TCATACCTTTGCAGGTGTATG	0.333																																						uc010tze.1																			0											c.(166-168)gCa>gTa		Homo sapiens neurobeachin pseudogene 1 (NBEAP1), non-coding RNA.																																						606							g.chr15:20876446G>A			15q11.2	2014-03-20	2011-05-03	2011-05-03	ENSG00000258590	ENSG00000258590			1007	pseudogene	pseudogene		601889	"""B-cell CLL/lymphoma 8"""	BCL8		9159141	Standard	NR_027992		Approved	BCL8A	uc010tze.1	P0C6P0	OTTHUMG00000171717		15.37:g.20876446G>A						NBEAP1_uc010tzd.2_Non-coding_Transcript	p.A56V							1	374	-									Missense_Mutation	SNP	ENST00000556948.1	37	c.167C>T																																																																																					0.333	NBEAP1-002	KNOWN	not_best_in_genome_evidence|basic	retained_intron	pseudogene	OTTHUMT00000414853.1	NR_027992		4	30	0	0	0	1	0	4	30				
PGLYRP4	57115	broad.mit.edu	37	1	153315684	153315684	+	Splice_Site	SNP	G	G	A			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr1:153315684G>A	ENST00000359650.5	-	5	418	c.354C>T	c.(352-354)aaC>aaT	p.N118N	PGLYRP4_ENST00000368739.3_Splice_Site_p.N114N|PGLYRP4_ENST00000490266.1_5'Flank	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	118					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAACCAGGAAGCTATGGAGCA	0.502																																						uc001fbo.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.e5-1		Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.							170.0	134.0	146.0					1																	153315684		2203	4300	6503	SO:0001630	splice_region_variant	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153315684G>A	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.354-1C>T	1.37:g.153315684G>A						PGLYRP4_uc001fbp.3_Splice_Site_p.N114_splice	p.N118_splice	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	419	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		118					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Splice_Site	SNP	ENST00000359650.5	37	c.354_splice	CCDS30871.1																																																																																				0.502	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393	Silent	29	54	0	0	0	1	0	29	54				
PCDHGA4	56111	broad.mit.edu	37	5	140736469	140736469	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr5:140736469C>A	ENST00000571252.1	+	1	1702	c.1702C>A	c.(1702-1704)Cct>Act	p.P568T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	568					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCACCTTCCCTACTGATGG	0.577																																						uc003ljq.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1702-1704)Cct>Act		Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.							188.0	198.0	195.0					5																	140736469		2197	4297	6494	SO:0001583	missense	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140736469C>A	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1702C>A	5.37:g.140736469C>A	ENSP00000458570:p.Pro568Thr					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.P568T	p.P568T	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1702	+			570					Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.1702C>A	CCDS58979.1																																																																																				0.577	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		32	302	0	0	0	1	0	32	302				
SLC12A4	6560	broad.mit.edu	37	16	67980860	67980860	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr16:67980860C>T	ENST00000316341.3	-	17	2361	c.2221G>A	c.(2221-2223)Gag>Aag	p.E741K	SLC12A4_ENST00000576616.1_Missense_Mutation_p.E741K|SLC12A4_ENST00000338335.3_Missense_Mutation_p.E741K|SLC12A4_ENST00000541864.2_Missense_Mutation_p.E710K|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000422611.2_Missense_Mutation_p.E743K|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000537830.2_Missense_Mutation_p.E735K|SLC12A4_ENST00000572037.1_Missense_Mutation_p.E693K	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	741					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCTGAGCCTCGCCATAGCTC	0.637																																						uc010vkj.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(2227-2229)Gag>Aag		Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	Bumetanide(DB00887)|Potassium Chloride(DB00761)						46.0	47.0	47.0					16																	67980860		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67980860C>T		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2221G>A	16.37:g.67980860C>T	ENSP00000318557:p.Glu741Lys					LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Missense_Mutation_p.E735K|SLC12A4_uc010vkh.1_Missense_Mutation_p.E710K|SLC12A4_uc002euz.2_Missense_Mutation_p.E741K|SLC12A4_uc010vki.1_Missense_Mutation_p.E741K|SLC12A4_uc002eva.2_Missense_Mutation_p.E741K|SLC12A4_uc010cev.1_Non-coding_Transcript|SLC12A4_uc002evb.2_Non-coding_Transcript	p.E743K	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	15	2267	-		Ovarian(137;0.192)	741					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.2227G>A	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214590	0.95104	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.93893	0.8046	L	0.49640	1.575	0.80722	D	1	B;B;D;B;B;B	0.69078	0.157;0.085;0.997;0.067;0.067;0.181	B;B;P;B;B;B	0.59056	0.056;0.014;0.851;0.031;0.009;0.014	D	0.92530	0.6032	10	0.33940	T	0.23	.	19.5025	0.95103	0.0:1.0:0.0:0.0	.	743;741;710;735;741;741	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	K	743;710;735;741;741	ENSP00000395983:E743K;ENSP00000438334:E710K;ENSP00000445962:E735K;ENSP00000343374:E741K;ENSP00000318557:E741K	ENSP00000318557:E741K	E	-	1	0	SLC12A4	66538361	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.977000	0.70492	2.605000	0.88082	0.655000	0.94253	GAG		0.637	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		26	51	0	0	0	1	0	26	51				
CCDC132	55610	broad.mit.edu	37	7	92869235	92869235	+	Silent	SNP	G	G	A			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr7:92869235G>A	ENST00000305866.5	+	2	218	c.90G>A	c.(88-90)cgG>cgA	p.R30R	CCDC132_ENST00000544910.1_5'UTR|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000535481.1_Silent_p.R30R|CCDC132_ENST00000251739.5_Silent_p.R30R	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	30						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAGTCTCCGGGTCCCTGGAA	0.393																																						uc003umo.3																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(88-90)cgG>cgA		Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.							96.0	103.0	101.0					7																	92869235		2203	4300	6503	SO:0001819	synonymous_variant	55610							g.chr7:92869235G>A	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.90G>A	7.37:g.92869235G>A						CCDC132_uc003ump.3_5'UTR|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Silent_p.R30R|CCDC132_uc003umn.3_Silent_p.R30R	p.R30R	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		1	218	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		30					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Silent	SNP	ENST00000305866.5	37	c.90G>A	CCDS43617.1																																																																																				0.393	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		34	71	0	0	0	1	0	34	71				
C5orf42	65250	broad.mit.edu	37	5	37169007	37169007	+	Silent	SNP	T	T	C			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr5:37169007T>C	ENST00000508244.1	-	33	7212	c.7119A>G	c.(7117-7119)ccA>ccG	p.P2373P	C5orf42_ENST00000425232.2_Silent_p.P2373P|C5orf42_ENST00000274258.7_Silent_p.P1253P			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2373						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTGAGGTTGATGGAAACATAT	0.393																																						uc011cpa.1																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(7117-7119)ccA>ccG		Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.							201.0	200.0	200.0					5																	37169007		2203	4300	6503	SO:0001819	synonymous_variant	65250							g.chr5:37169007T>C		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7119A>G	5.37:g.37169007T>C						C5orf42_uc011coy.1_Silent_p.P873P|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.P1448P|C5orf42_uc003jkr.1_Silent_p.P406P	p.P2373P	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		33	7350	-	all_lung(31;0.000616)		2373					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	c.7119A>G	CCDS34146.2																																																																																				0.393	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		28	123	0	0	0	1	0	28	123				
LINC01239	441389	broad.mit.edu	37	9	22823450	22823450	+	lincRNA	DEL	C	C	-			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr9:22823450delC	ENST00000436786.1	+	0	1585					NR_038977.1																						cagcaggaagcagttagagtg	0.537																																						uc003zpq.1																			0													Homo sapiens uncharacterized LOC441389 (FLJ35282), non-coding RNA.																																						441389							g.chr9:22823450delC																													9.37:g.22823450delC														5		+									RNA	DEL	ENST00000436786.1	37	c.1585delC																																																																																					0.537	RP11-399D6.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000051938.1			2	4						2	4	---	---	---	---
