#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_ACHILLES_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
KANK4	163782	broad.mit.edu	37	1	62739326	62739326	+	Missense_Mutation	SNP	C	C	T	rs142004576		TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr1:62739326C>T	ENST00000371153.4	-	3	1828	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	484						cytoplasm (GO:0005737)		p.E484K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						AGGACCTGCTCGGGTCCCTGT	0.567													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20043	0.0		0.0	False		,,,				2504	0.0						uc001dah.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|lung(1)	6						c.(1450-1452)GAG>AAG		ankyrin repeat domain 38		C	LYS/GLU	0,4406		0,0,2203	108.0	109.0	109.0		1450	2.2	0.0	1	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	missense	KANK4	NM_181712.4	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	484/996	62739326	1,13005	2203	4300	6503	SO:0001583	missense	163782							g.chr1:62739326C>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1450G>A	1.37:g.62739326C>T	ENSP00000360195:p.Glu484Lys					KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	p.E484K	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			3	1827	-			484					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.1450G>A	CCDS620.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	12.36	1.914474	0.33815	0.0	1.16E-4	ENSG00000132854	ENST00000371153	T	0.66099	-0.19	5.15	2.15	0.27550	.	0.000000	0.38111	N	0.001812	T	0.54631	0.1870	M	0.66939	2.045	0.20489	N	0.999898	B	0.16166	0.016	B	0.10450	0.005	T	0.49341	-0.8950	10	0.45353	T	0.12	-1.3515	6.6796	0.23113	0.1419:0.7054:0.0:0.1528	.	484	Q5T7N3	KANK4_HUMAN	K	484	ENSP00000360195:E484K	ENSP00000360195:E484K	E	-	1	0	KANK4	62511914	0.003000	0.15002	0.007000	0.13788	0.107000	0.19398	0.112000	0.15479	0.246000	0.21394	0.655000	0.94253	GAG		0.567	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		48	54	0	0	0	0.01441	0	48	54				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																							uc001end.3		NA																	5	Substitution - Missense(5)		skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)		0						c.(10588-10590)GAA>AAA		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	p.E3530K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	85	10623	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10588G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	94	0	0	0	0.00308	0	6	94				
ADAMTSL4	54507	broad.mit.edu	37	1	150529665	150529665	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr1:150529665G>A	ENST00000369038.2	+	10	2102	c.1901G>A	c.(1900-1902)cGc>cAc	p.R634H	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R657H|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R634H|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.R634H|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	634	Pro-rich. {ECO:0000255}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)	p.R634H(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCGGCACCCCGCCCAGCCCGG	0.711																																							uc001eux.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1900-1902)CGC>CAC		thrombospondin repeat containing 1 isoform 1							14.0	18.0	17.0					1																	150529665		2192	4285	6477	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150529665G>A	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1901G>A	1.37:g.150529665G>A	ENSP00000358034:p.Arg634His					ADAMTSL4_uc001euw.2_Missense_Mutation_p.R634H|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.R657H|ADAMTSL4_uc010pcg.1_Intron|ADAMTSL4_uc009wlx.2_5'Flank	p.R634H	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		12	2137	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		634			Pro-rich.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.1901G>A	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340313	0.60963	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000407995;ENST00000369039;ENST00000369038	T;T;T;T	0.63096	0.08;-0.02;0.27;-0.02	5.05	5.05	0.67936	.	.	.	.	.	T	0.62816	0.2459	L	0.56769	1.78	0.39474	D	0.967771	D;D;D	0.89917	0.999;0.999;1.0	P;P;D	0.65773	0.902;0.813;0.938	T	0.61574	-0.7035	9	0.30854	T	0.27	.	9.3441	0.38098	0.0946:0.0:0.9054:0.0	.	657;634;634	F8WAD0;Q6UY14;Q6UY14-2	.;ATL4_HUMAN;.	H	634;634;172;657;634	ENSP00000358037:R634H;ENSP00000271643:R634H;ENSP00000358035:R657H;ENSP00000358034:R634H	ENSP00000271643:R634H	R	+	2	0	ADAMTSL4	148796289	0.918000	0.31147	0.942000	0.38095	0.268000	0.26511	2.112000	0.41892	2.630000	0.89119	0.655000	0.94253	CGC		0.711	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		10	42	0	0	0	0.003163	0	10	42				
SPTA1	6708	broad.mit.edu	37	1	158592861	158592861	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr1:158592861G>A	ENST00000368147.4	-	43	6212	c.6032C>T	c.(6031-6033)gCc>gTc	p.A2011V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2011					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.A2011V(6)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGCAGAGCGGCATAACGCTC	0.483																																							uc001fst.1		NA																	6	Substitution - Missense(6)		lung(4)|urinary_tract(1)|prostate(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6031-6033)GCC>GTC		spectrin, alpha, erythrocytic 1							267.0	267.0	267.0					1																	158592861		1943	4143	6086	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158592861G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6032C>T	1.37:g.158592861G>A	ENSP00000357129:p.Ala2011Val						p.A2011V	NM_003126	NP_003117	P02549	SPTA1_HUMAN			43	6231	-	all_hematologic(112;0.0378)		2011			Spectrin 19.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6032C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	9.476	1.096957	0.20552	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51325	0.71;0.71	4.78	0.669	0.17918	.	.	.	.	.	T	0.22859	0.0552	M	0.68952	2.095	0.30521	N	0.768424	B	0.23990	0.095	B	0.29267	0.1	T	0.14531	-1.0469	9	0.33940	T	0.23	.	5.4632	0.16627	0.1562:0.0:0.5633:0.2805	.	2011	P02549	SPTA1_HUMAN	V	2011;2008	ENSP00000357130:A2011V;ENSP00000357129:A2008V	ENSP00000357129:A2008V	A	-	2	0	SPTA1	156859485	1.000000	0.71417	0.002000	0.10522	0.000000	0.00434	4.149000	0.58091	-0.029000	0.13827	-0.140000	0.14226	GCC		0.483	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		7	910	0	0	0	0.001168	0	7	910				
LAMC1	3915	broad.mit.edu	37	1	183104244	183104244	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr1:183104244G>T	ENST00000258341.4	+	24	4324	c.4067G>T	c.(4066-4068)gGa>gTa	p.G1356V		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1356	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.G1356V(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GCAAAGAAGGGACGGGATACC	0.502																																							uc001gpy.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|kidney(1)	5						c.(4066-4068)GGA>GTA		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						73.0	65.0	68.0					1																	183104244		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183104244G>T	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.4067G>T	1.37:g.183104244G>T	ENSP00000258341:p.Gly1356Val						p.G1356V	NM_002293	NP_002284	P11047	LAMC1_HUMAN			24	4324	+			1356			Potential.|Domain II and I.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.4067G>T	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456879	0.63401	.	.	ENSG00000135862	ENST00000258341	T	0.76839	-1.05	5.79	5.79	0.91817	.	0.047154	0.85682	D	0.000000	D	0.88153	0.6360	M	0.78637	2.42	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.85499	0.1190	10	0.30854	T	0.27	.	19.6272	0.95682	0.0:0.0:1.0:0.0	.	1356	P11047	LAMC1_HUMAN	V	1356	ENSP00000258341:G1356V	ENSP00000258341:G1356V	G	+	2	0	LAMC1	181370867	1.000000	0.71417	0.916000	0.36221	0.014000	0.08584	7.248000	0.78268	2.728000	0.93425	0.655000	0.94253	GGA		0.502	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		16	30	1	0	9.16793e-09	0.00499	1.02982e-08	16	30				
RYR2	6262	broad.mit.edu	37	1	237791246	237791246	+	Silent	SNP	G	G	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr1:237791246G>T	ENST00000366574.2	+	41	6623	c.6306G>T	c.(6304-6306)ctG>ctT	p.L2102L	RYR2_ENST00000542537.1_Silent_p.L2086L|RYR2_ENST00000360064.6_Silent_p.L2100L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2102	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.L2100L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCGGGCCCTGCCAAAGACCT	0.567																																							uc001hyl.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(6304-6306)CTG>CTT		cardiac muscle ryanodine receptor							84.0	85.0	85.0					1																	237791246		1985	4147	6132	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237791246G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6306G>T	1.37:g.237791246G>T							p.L2102L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		41	6426	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2102			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.6306G>T	CCDS55691.1																																																																																				0.567	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		14	44	1	0	4.14922e-12	0.004007	4.86051e-12	14	44				
IDI1	3422	broad.mit.edu	37	10	1089975	1089975	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr10:1089975T>A	ENST00000381344.3	-	2	443	c.277A>T	c.(277-279)Aag>Tag	p.K93*	IDI2-AS1_ENST00000437374.1_RNA|RNU7-163P_ENST00000459467.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI1_ENST00000491735.1_Intron|IDI2-AS1_ENST00000420381.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	36	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)	p.K93*(1)		large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		CAATTCTTCTTGGTCTCAGCT	0.398																																							uc001iga.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(277-279)AAG>TAG		isopentenyl-diphosphate delta isomerase							168.0	154.0	159.0					10																	1089975		2203	4300	6503	SO:0001587	stop_gained	3422				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1089975T>A	BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"""IPP isomerase"""	604055	"""isopentenyl-diphosphate delta isomerase"""			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.277A>T	10.37:g.1089975T>A	ENSP00000370748:p.Lys93*					C10orf110_uc010qaf.1_RNA|C10orf110_uc001ifx.3_RNA|C10orf110_uc001ifw.3_3'UTR|C10orf110_uc001ify.3_RNA|IDI1_uc001ifz.2_Nonsense_Mutation_p.K37*|IDI1_uc001igb.2_Intron|IDI1_uc001igc.2_Nonsense_Mutation_p.K37*	p.K93*	NM_004508	NP_004499	Q13907	IDI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)	2	395	-		all_epithelial(10;0.107)|Colorectal(49;0.14)	36				Substrate.	B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Nonsense_Mutation	SNP	ENST00000381344.3	37	c.277A>T	CCDS7056.1	.	.	.	.	.	.	.	.	.	.	T	42	9.270997	0.99120	.	.	ENSG00000067064	ENST00000381344;ENST00000429642	.	.	.	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.1059	14.3128	0.66426	0.0:0.0:0.0:1.0	.	.	.	.	X	93;36	.	ENSP00000370748:K93X	K	-	1	0	IDI1	1079975	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.296000	0.78790	1.768000	0.52137	0.482000	0.46254	AAG		0.398	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046409.2	NM_004508		12	198	0	0	0	0.013537	0	12	198				
TET1	80312	broad.mit.edu	37	10	70450634	70450634	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr10:70450634C>G	ENST00000373644.4	+	12	5683	c.5474C>G	c.(5473-5475)tCa>tGa	p.S1825*		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1825					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.S1825*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTAAAAAGTTCAGACAACACT	0.453																																							uc001jok.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(5473-5475)TCA>TGA		CXXC finger 6							93.0	95.0	94.0					10																	70450634		2203	4300	6503	SO:0001587	stop_gained	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70450634C>G	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5474C>G	10.37:g.70450634C>G	ENSP00000362748:p.Ser1825*						p.S1825*	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			12	5979	+			1825					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Nonsense_Mutation	SNP	ENST00000373644.4	37	c.5474C>G	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	46	12.244943	0.99650	.	.	ENSG00000138336	ENST00000373644	.	.	.	5.22	1.26	0.21427	.	3.305870	0.01691	N	0.026648	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	8.8693	0.35305	0.0:0.7029:0.0:0.2971	.	.	.	.	X	1825	.	ENSP00000362748:S1825X	S	+	2	0	TET1	70120640	0.976000	0.34144	0.997000	0.53966	0.962000	0.63368	0.650000	0.24858	0.225000	0.20959	0.655000	0.94253	TCA		0.453	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		9	220	0	0	0	0.004482	0	9	220				
MYOF	26509	broad.mit.edu	37	10	95113621	95113621	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr10:95113621C>G	ENST00000359263.4	-	32	3427	c.3428G>C	c.(3427-3429)tGc>tCc	p.C1143S	MYOF_ENST00000358334.5_Missense_Mutation_p.C1130S|MYOF_ENST00000371502.4_Missense_Mutation_p.C1143S|MYOF_ENST00000371501.4_Missense_Mutation_p.C1143S	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1143	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.C1143S(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATAGACATAGCAGCGCAGATG	0.353																																							uc001kin.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(3427-3429)TGC>TCC		myoferlin isoform a							130.0	124.0	126.0					10																	95113621		1854	4103	5957	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95113621C>G	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.3428G>C	10.37:g.95113621C>G	ENSP00000352208:p.Cys1143Ser					MYOF_uc001kio.2_Missense_Mutation_p.C1130S|MYOF_uc009xue.2_RNA	p.C1143S	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN			32	3551	-			1143			Cytoplasmic (Potential).|C2 4.		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.3428G>C	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303923	0.81136	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.95	5.95	0.96441	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.105470	0.64402	D	0.000002	D	0.83464	0.5260	M	0.79693	2.465	0.50813	D	0.999894	D;P	0.65815	0.995;0.875	D;P	0.68621	0.959;0.86	D	0.84148	0.0421	10	0.72032	D	0.01	-18.8241	20.3789	0.98926	0.0:1.0:0.0:0.0	.	1130;1143	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	S	1130;1143;1143;1143	ENSP00000351094:C1130S;ENSP00000352208:C1143S;ENSP00000360556:C1143S;ENSP00000360557:C1143S	ENSP00000351094:C1130S	C	-	2	0	MYOF	95103611	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	4.707000	0.61852	2.826000	0.97356	0.563000	0.77884	TGC		0.353	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		47	69	0	0	0	0.01441	0	47	69				
SAAL1	113174	broad.mit.edu	37	11	18108506	18108506	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr11:18108506G>A	ENST00000524803.1	-	9	998	c.949C>T	c.(949-951)Caa>Taa	p.Q317*	SAAL1_ENST00000533851.1_5'Flank|SAAL1_ENST00000300013.4_Nonsense_Mutation_p.Q317*|SAAL1_ENST00000529318.1_Nonsense_Mutation_p.Q317*			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	317								p.Q317*(1)		breast(2)|large_intestine(5)|lung(8)	15						TTCTGTTCTTGAAGAATGATG	0.403																																							uc001mnq.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(949-951)CAA>TAA		serum amyloid A-like 1							105.0	100.0	102.0					11																	18108506		2200	4293	6493	SO:0001587	stop_gained	113174				acute-phase response	extracellular region	binding	g.chr11:18108506G>A	AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.949C>T	11.37:g.18108506G>A	ENSP00000432487:p.Gln317*					SAAL1_uc001mnr.2_Nonsense_Mutation_p.Q317*|SAAL1_uc001mns.2_RNA|SAAL1_uc009yhf.2_Nonsense_Mutation_p.Q317*	p.Q317*	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN			9	999	-			317					A6NH05	Nonsense_Mutation	SNP	ENST00000524803.1	37	c.949C>T	CCDS31439.1	.	.	.	.	.	.	.	.	.	.	G	39	7.855083	0.98528	.	.	ENSG00000166788	ENST00000524803;ENST00000300013;ENST00000531751;ENST00000529318	.	.	.	5.68	5.68	0.88126	.	0.239398	0.42682	D	0.000672	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-5.0427	19.7673	0.96349	0.0:0.0:1.0:0.0	.	.	.	.	X	317;317;206;317	.	ENSP00000300013:Q317X	Q	-	1	0	SAAL1	18065082	1.000000	0.71417	0.865000	0.33974	0.989000	0.77384	8.689000	0.91265	2.681000	0.91329	0.573000	0.79308	CAA		0.403	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421		4	116	0	0	0	0.009096	0	4	116				
SLC22A25	387601	broad.mit.edu	37	11	62997041	62997041	+	Silent	SNP	G	G	A	rs150920552	byFrequency	TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr11:62997041G>A	ENST00000306494.6	-	1	83	c.84C>T	c.(82-84)aaC>aaT	p.N28N	SLC22A10_ENST00000525620.1_Intron|SLC22A25_ENST00000403374.2_5'Flank|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25									p.N28N(2)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						ATACTATGACGTTGAACATTA	0.458													g|||	8	0.00159744	0.0023	0.0014	5008	,	,		20234	0.002		0.002	False		,,,				2504	0.0						uc001nwr.1		NA																	2	Substitution - coding silent(2)		NS(1)|lung(1)	ovary(3)|skin(1)	4						c.(82-84)AAC>AAT		putative UST1-like organic anion transporter		A		13,4389	20.2+/-43.8	0,13,2188	110.0	108.0	109.0		84	-7.9	0.0	11	dbSNP_134	109	31,8565	21.6+/-65.8	0,31,4267	no	coding-synonymous	SLC22A25	NM_199352.3		0,44,6455	AA,AG,GG		0.3606,0.2953,0.3385		28/548	62997041	44,12954	2201	4298	6499	SO:0001819	synonymous_variant	387601				transmembrane transport	integral to membrane		g.chr11:62997041G>A	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.84C>T	11.37:g.62997041G>A						SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA|SLC22A25_uc001nwt.1_Silent_p.N28N	p.N28N	NM_199352	NP_955384	Q6T423	S22AP_HUMAN			1	84	-			28			Helical; Name=1; (Potential).			Silent	SNP	ENST00000306494.6	37	c.84C>T	CCDS31592.1																																																																																				0.458	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		28	75	0	0	0	0.00632	0	28	75				
SF1	7536	broad.mit.edu	37	11	64535055	64535055	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr11:64535055G>A	ENST00000377390.3	-	10	1667	c.1330C>T	c.(1330-1332)Cct>Tct	p.P444S	SF1_ENST00000377394.3_Missense_Mutation_p.P444S|SF1_ENST00000433274.2_Missense_Mutation_p.P418S|SF1_ENST00000227503.9_Missense_Mutation_p.P444S|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000377387.1_Missense_Mutation_p.P569S|SF1_ENST00000334944.5_Missense_Mutation_p.P444S|SF1_ENST00000422298.2_Missense_Mutation_p.P329S	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	444	Pro-rich.				Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.P444S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						ATTGGAGGAGGGCCATGGTGC	0.592											OREG0021062	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001obb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1330-1332)CCT>TCT		splicing factor 1 isoform 1							66.0	75.0	72.0					11																	64535055		2201	4297	6498	SO:0001583	missense	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64535055G>A	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.1330C>T	11.37:g.64535055G>A	ENSP00000366607:p.Pro444Ser		OREG0021062	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1077	SF1_uc010rnm.1_Missense_Mutation_p.P136S|SF1_uc010rnn.1_Missense_Mutation_p.P418S|SF1_uc001oaz.1_Missense_Mutation_p.P569S|SF1_uc001oba.1_Missense_Mutation_p.P444S|SF1_uc001obc.1_Missense_Mutation_p.P444S|SF1_uc001obd.1_Missense_Mutation_p.P444S|SF1_uc001obe.1_Missense_Mutation_p.P329S|SF1_uc010rno.1_Missense_Mutation_p.P329S	p.P444S	NM_004630	NP_004621	Q15637	SF01_HUMAN			10	1707	-			444			Pro-rich.		B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.1330C>T	CCDS31599.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.43|17.43	3.387537|3.387537	0.61956|0.61956	.|.	.|.	ENSG00000168066|ENSG00000168066	ENST00000413725|ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000443908;ENST00000433274;ENST00000486867	.|T;T;T;T;T;T;T;T;T	.|0.63580	.|0.89;0.92;0.92;0.79;0.91;0.89;0.95;0.92;-0.05	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.244464|0.244464	0.29529|0.29529	N|N	0.011892|0.011892	T|T	0.61173|0.61173	0.2326|0.2326	N|N	0.04508|0.04508	-0.205|-0.205	0.46241|0.46241	D|D	0.998944|0.998944	.|P;D;P;D;D;D	.|0.67145	.|0.909;0.988;0.945;0.98;0.988;0.996	.|P;D;P;D;D;D	.|0.78314	.|0.641;0.986;0.803;0.968;0.986;0.991	T|T	0.66081|0.66081	-0.6012|-0.6012	6|10	.|0.33141	.|T	.|0.24	.|.	17.596|17.596	0.88012|0.88012	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|329;444;444;444;444;569	.|B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.|.;.;.;SF01_HUMAN;.;.	L|S	12|569;444;444;444;444;329;88;418;165	.|ENSP00000366604:P569S;ENSP00000366607:P444S;ENSP00000227503:P444S;ENSP00000366611:P444S;ENSP00000334414:P444S;ENSP00000413084:P329S;ENSP00000391198:P88S;ENSP00000396793:P418S;ENSP00000419062:P165S	.|ENSP00000227503:P444S	P|P	-|-	2|1	0|0	SF1|SF1	64291631|64291631	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.625000|4.625000	0.61262|0.61262	2.759000|2.759000	0.94783|0.94783	0.555000|0.555000	0.69702|0.69702	CCC|CCT		0.592	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		65	112	0	0	0	0.01441	0	65	112				
FAT3	120114	broad.mit.edu	37	11	92526038	92526038	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr11:92526038G>A	ENST00000298047.6	+	8	4734	c.4717G>A	c.(4717-4719)Gcg>Acg	p.A1573T	FAT3_ENST00000525166.1_Missense_Mutation_p.A1423T|FAT3_ENST00000409404.2_Missense_Mutation_p.A1573T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1573	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A1573T(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTGTATGAAGCGTCTGTGTT	0.438										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(4717-4719)GCG>ACG		FAT tumor suppressor homolog 3							159.0	163.0	162.0					11																	92526038		1996	4180	6176	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92526038G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4717G>A	11.37:g.92526038G>A	ENSP00000298047:p.Ala1573Thr	TCGA Ovarian(4;0.039)					p.A1573T	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			8	4734	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1573			Cadherin 15.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4717G>A		.	.	.	.	.	.	.	.	.	.	G	28.9	4.962915	0.92791	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.55234	0.53;0.53;0.53	5.74	5.74	0.90152	.	.	.	.	.	T	0.68137	0.2968	L	0.53780	1.695	0.80722	D	1	D	0.65815	0.995	D	0.64042	0.921	T	0.62690	-0.6801	9	0.37606	T	0.19	.	20.2825	0.98528	0.0:0.0:1.0:0.0	.	1573	Q8TDW7-3	.	T	1573;1573;1423	ENSP00000298047:A1573T;ENSP00000387040:A1573T;ENSP00000432586:A1423T	ENSP00000298047:A1573T	A	+	1	0	FAT3	92165686	1.000000	0.71417	0.999000	0.59377	0.836000	0.47400	9.338000	0.96553	2.873000	0.98535	0.561000	0.74099	GCG		0.438	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	268	0	0	0	0.004482	0	6	268				
USP15	9958	broad.mit.edu	37	12	62785065	62785065	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr12:62785065G>A	ENST00000280377.5	+	16	2147	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K	USP15_ENST00000353364.3_Missense_Mutation_p.E668K|USP15_ENST00000393654.3_Missense_Mutation_p.E672K	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	697	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E668K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ATTATGTACTGAGGATACTTG	0.383																																					Melanoma(181;615 2041 39364 49691 50001)	Melanoma(181;615 2041 39364 49691 50001)	uc001src.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(2089-2091)GAG>AAG		ubiquitin specific peptidase 15							109.0	106.0	107.0					12																	62785065		2203	4300	6503	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62785065G>A	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2089G>A	12.37:g.62785065G>A	ENSP00000280377:p.Glu697Lys					USP15_uc001srb.1_Missense_Mutation_p.E668K	p.E697K	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	16	2098	+			697					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.2089G>A	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075581	0.36662	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.18810	2.19;2.19;2.19	5.59	5.59	0.84812	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.118971	0.56097	D	0.000029	T	0.22360	0.0539	L	0.45137	1.4	0.50632	D	0.999887	B;B	0.12013	0.005;0.004	B;B	0.18263	0.021;0.008	T	0.03981	-1.0987	9	.	.	.	-14.5374	19.6016	0.95566	0.0:0.0:1.0:0.0	.	697;668	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	K	668;697;672	ENSP00000258123:E668K;ENSP00000280377:E697K;ENSP00000377264:E672K	.	E	+	1	0	USP15	61071332	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.942000	0.75928	2.643000	0.89663	0.563000	0.77884	GAG		0.383	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		38	80	0	0	0	0.006999	0	38	80				
ADCY4	196883	broad.mit.edu	37	14	24798609	24798609	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr14:24798609G>A	ENST00000310677.4	-	10	1461	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W	ADCY4_ENST00000396747.3_Missense_Mutation_p.R143W|ADCY4_ENST00000418030.2_Missense_Mutation_p.R450W|ADCY4_ENST00000554068.2_Missense_Mutation_p.R450W	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	450					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.R450W(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCTTTTACCCGTGGATCGATG	0.607																																							uc001wov.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(1348-1350)CGG>TGG		adenylate cyclase 4							63.0	66.0	65.0					14																	24798609		2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24798609G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1348C>T	14.37:g.24798609G>A	ENSP00000312126:p.Arg450Trp					ADCY4_uc001wow.2_Missense_Mutation_p.R450W|ADCY4_uc010toh.1_Missense_Mutation_p.R136W|ADCY4_uc001wox.2_Missense_Mutation_p.R450W|ADCY4_uc001woy.2_Missense_Mutation_p.R450W	p.R450W	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	9	1354	-			450			Cytoplasmic (Potential).		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.1348C>T	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504458	0.44558	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747	T;T;T;T	0.80304	-1.13;-1.13;-1.13;-1.36	5.13	3.13	0.36017	.	0.330634	0.21518	N	0.073271	T	0.59729	0.2215	N	0.08118	0	0.45930	D	0.998761	B	0.02656	0.0	B	0.01281	0.0	T	0.57418	-0.7815	10	0.59425	D	0.04	.	6.0195	0.19620	0.0957:0.0:0.6397:0.2646	.	450	Q8NFM4	ADCY4_HUMAN	W	450;450;450;143	ENSP00000312126:R450W;ENSP00000452250:R450W;ENSP00000393177:R450W;ENSP00000379971:R143W	ENSP00000312126:R450W	R	-	1	2	ADCY4	23868449	0.819000	0.29175	1.000000	0.80357	0.880000	0.50808	1.157000	0.31724	1.366000	0.46076	0.655000	0.94253	CGG		0.607	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			19	47	0	0	0	0.021523	0	19	47				
SPTB	6710	broad.mit.edu	37	14	65264536	65264536	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr14:65264536G>C	ENST00000389721.5	-	9	1125	c.1093C>G	c.(1093-1095)Cta>Gta	p.L365V	SPTB_ENST00000389722.3_Missense_Mutation_p.L365V|SPTB_ENST00000542895.1_Missense_Mutation_p.L365V|SPTB_ENST00000556626.1_Missense_Mutation_p.L365V|SPTB_ENST00000389720.3_Missense_Mutation_p.L365V	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	365					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.L365V(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTAAAAAGTAGAACTTCCAGA	0.433																																							uc001xht.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(1093-1095)CTA>GTA		spectrin beta isoform b							167.0	151.0	157.0					14																	65264536		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65264536G>C		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1093C>G	14.37:g.65264536G>C	ENSP00000374371:p.Leu365Val					SPTB_uc001xhr.2_Missense_Mutation_p.L365V|SPTB_uc001xhs.2_Missense_Mutation_p.L365V|SPTB_uc001xhu.2_Missense_Mutation_p.L365V	p.L365V	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	9	1147	-		all_lung(585;4.15e-09)	365			Spectrin 1.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.1093C>G	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072309	0.76415	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	5.95	5.01	0.66863	.	0.000000	0.64402	D	0.000001	T	0.77157	0.4089	M	0.93678	3.445	0.58432	D	0.99999	D;D	0.89917	0.999;1.0	D;D	0.83275	0.991;0.996	T	0.81243	-0.1021	10	0.87932	D	0	.	9.4471	0.38703	0.1744:0.0:0.8256:0.0	.	365;369	P11277;Q59FP5	SPTB1_HUMAN;.	V	369;365;365;365;365;365	ENSP00000374372:L365V;ENSP00000451752:L365V;ENSP00000374371:L365V;ENSP00000443882:L365V;ENSP00000374370:L365V	ENSP00000374370:L365V	L	-	1	2	SPTB	64334289	1.000000	0.71417	0.988000	0.46212	0.962000	0.63368	5.765000	0.68834	1.394000	0.46624	0.650000	0.86243	CTA		0.433	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			50	140	0	0	0	0.01441	0	50	140				
PLD4	122618	broad.mit.edu	37	14	105395177	105395177	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr14:105395177C>G	ENST00000392593.4	+	4	544	c.376C>G	c.(376-378)Ctg>Gtg	p.L126V	PLD4_ENST00000540372.1_Missense_Mutation_p.L133V	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	126					glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)	p.L126V(1)|p.L109V(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			GCTGCAGCTGCTGGACACTGC	0.657																																							uc001ypu.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(376-378)CTG>GTG		phospholipase D4	Choline(DB00122)						37.0	41.0	40.0					14																	105395177		2005	4176	6181	SO:0001583	missense	122618				lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity	g.chr14:105395177C>G		CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 175"""	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.376C>G	14.37:g.105395177C>G	ENSP00000376372:p.Leu126Val					PLD4_uc010tyl.1_Missense_Mutation_p.L133V	p.L126V	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		4	517	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	126					Q6UWD2	Missense_Mutation	SNP	ENST00000392593.4	37	c.376C>G	CCDS9995.2	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522848	0.64747	.	.	ENSG00000166428	ENST00000540372;ENST00000392593;ENST00000557573	T;T;T	0.15487	2.42;2.42;2.42	4.45	4.45	0.53987	.	0.182670	0.37304	N	0.002141	T	0.31482	0.0798	M	0.74647	2.275	0.80722	D	1	P;P	0.48998	0.918;0.866	P;B	0.54346	0.749;0.443	T	0.03807	-1.1002	10	0.59425	D	0.04	8.8429	8.8757	0.35343	0.0:0.8952:0.0:0.1048	.	133;126	F5H2B5;Q96BZ4	.;PLD4_HUMAN	V	133;126;124	ENSP00000438677:L133V;ENSP00000376372:L126V;ENSP00000451278:L124V	ENSP00000376372:L126V	L	+	1	2	PLD4	104466222	0.147000	0.22687	0.896000	0.35187	0.994000	0.84299	0.586000	0.23894	2.185000	0.69588	0.645000	0.84053	CTG		0.657	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2	NM_138790		9	37	0	0	0	0.010729	0	9	37				
CHRNA7	1139	broad.mit.edu	37	15	32460235	32460235	+	Missense_Mutation	SNP	G	G	A	rs557315973		TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr15:32460235G>A	ENST00000306901.3	+	10	1182	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	CHRNA7_ENST00000455693.2_Missense_Mutation_p.R181Q|CHRNA7_ENST00000454250.3_Missense_Mutation_p.R391Q	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	362					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)	p.R362Q(1)|p.R272Q(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CACAAGCAGCGGCGCTGCAGC	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		18430	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(193;529 2900 40232 43193)	Esophageal Squamous(193;529 2900 40232 43193)	uc001zft.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1084-1086)CGG>CAG		cholinergic receptor, nicotinic, alpha 7	Nicotine(DB00184)|Varenicline(DB01273)						36.0	42.0	40.0					15																	32460235		2198	4296	6494	SO:0001583	missense	1139				activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding	g.chr15:32460235G>A	Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1960	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 7 (neuronal)"""	118511	"""cholinergic receptor, nicotinic, alpha polypeptide 7"""			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1085G>A	15.37:g.32460235G>A	ENSP00000303727:p.Arg362Gln					uc001zfv.1_Intron|CHRNA7_uc010baf.2_Missense_Mutation_p.R181Q|CHRNA7_uc010bak.2_Missense_Mutation_p.R277Q	p.R362Q	NM_000746	NP_000737	P36544	ACHA7_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	10	1157	+		all_lung(180;6.35e-11)	362			Cytoplasmic (Potential).		A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Missense_Mutation	SNP	ENST00000306901.3	37	c.1085G>A	CCDS10027.1	.	.	.	.	.	.	.	.	.	.	g	13.80	2.346433	0.41599	.	.	ENSG00000175344	ENST00000437966;ENST00000454250;ENST00000306901;ENST00000455693	T;T;T	0.23754	1.89;1.89;1.89	3.84	3.84	0.44239	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.347527	0.35151	N	0.003401	T	0.23492	0.0568	L	0.43923	1.385	0.46203	D	0.998922	B;B	0.15719	0.014;0.003	B;B	0.20184	0.028;0.017	T	0.04855	-1.0922	10	0.37606	T	0.19	.	14.0826	0.64934	0.0:0.0:1.0:0.0	.	391;362	B4DFS0;P36544	.;ACHA7_HUMAN	Q	272;391;362;181	ENSP00000407546:R391Q;ENSP00000303727:R362Q;ENSP00000405989:R181Q	ENSP00000303727:R362Q	R	+	2	0	CHRNA7	30247527	0.902000	0.30710	0.993000	0.49108	0.897000	0.52465	1.362000	0.34148	2.434000	0.82447	0.650000	0.86243	CGG		0.692	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251410.2			5	38	0	0	0	0.00499	0	5	38				
VPS18	57617	broad.mit.edu	37	15	41194859	41194859	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr15:41194859G>T	ENST00000220509.5	+	5	2581	c.2242G>T	c.(2242-2244)Gat>Tat	p.D748Y	VPS18_ENST00000558474.1_3'UTR	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	748					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)	p.D748Y(1)		autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCCTGAGGAGGATGAGGAATT	0.602																																							uc001zne.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(2242-2244)GAT>TAT		vacuolar protein sorting 18							131.0	107.0	115.0					15																	41194859		2203	4300	6503	SO:0001583	missense	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41194859G>T	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.2242G>T	15.37:g.41194859G>T	ENSP00000220509:p.Asp748Tyr						p.D748Y	NM_020857	NP_065908	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	5	2581	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	748			Clathrin.		Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	c.2242G>T	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713204	0.89112	.	.	ENSG00000104142	ENST00000220509	T	0.54279	0.58	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.79221	0.4409	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.81297	-0.0996	10	0.54805	T	0.06	-28.4285	20.1579	0.98126	0.0:0.0:1.0:0.0	.	748	Q9P253	VPS18_HUMAN	Y	748	ENSP00000220509:D748Y	ENSP00000220509:D748Y	D	+	1	0	VPS18	38982151	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	9.859000	0.99545	2.767000	0.95098	0.555000	0.69702	GAT		0.602	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			17	44	1	0	1.00905e-13	0.008871	1.21679e-13	17	44				
UBR1	197131	broad.mit.edu	37	15	43268937	43268937	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr15:43268937C>G	ENST00000290650.4	-	39	4425	c.4347G>C	c.(4345-4347)caG>caC	p.Q1449H	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1449					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q1449H(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TAAGTAGTATCTGAAGCATGT	0.388																																							uc001zqq.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(4345-4347)CAG>CAC		ubiquitin protein ligase E3 component n-recognin							154.0	126.0	135.0					15																	43268937		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43268937C>G		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.4347G>C	15.37:g.43268937C>G	ENSP00000290650:p.Gln1449His						p.Q1449H	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	39	4413	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1449					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.4347G>C	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641292	0.67244	.	.	ENSG00000159459	ENST00000290650	T	0.50001	0.76	5.2	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.63390	0.2507	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.65413	-0.6174	10	0.66056	D	0.02	-25.0536	6.8667	0.24098	0.0:0.7417:0.0:0.2583	.	1449	Q8IWV7	UBR1_HUMAN	H	1449	ENSP00000290650:Q1449H	ENSP00000290650:Q1449H	Q	-	3	2	UBR1	41056229	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.420000	0.34804	2.576000	0.86940	0.585000	0.79938	CAG		0.388	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		3	144	0	0	0	0.004672	0	3	144				
SLCO3A1	28232	broad.mit.edu	37	15	92459366	92459366	+	Silent	SNP	G	G	A	rs370591300		TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr15:92459366G>A	ENST00000318445.6	+	2	538	c.324G>A	c.(322-324)ctG>ctA	p.L108L	SLCO3A1_ENST00000424469.2_Silent_p.L108L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	108					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.L108L(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GGCCGCGCCTGATCGGCTGCG	0.682																																							uc002bqx.2		NA																	2	Substitution - coding silent(2)		cervix(1)|lung(1)	skin(1)	1						c.(322-324)CTG>CTA		solute carrier organic anion transporter family,							21.0	18.0	19.0					15																	92459366		2075	4073	6148	SO:0001819	synonymous_variant	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92459366G>A	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.324G>A	15.37:g.92459366G>A						SLCO3A1_uc002bqy.2_Silent_p.L108L|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Silent_p.L50L	p.L108L	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		2	525	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		108			Helical; Name=3; (Potential).		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	ENST00000318445.6	37	c.324G>A	CCDS10371.1																																																																																				0.682	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		3	12	0	0	0	0.006214	0	3	12				
SCNN1G	6340	broad.mit.edu	37	16	23200956	23200956	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr16:23200956G>C	ENST00000300061.2	+	3	725	c.582G>C	c.(580-582)atG>atC	p.M194I		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	194					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.M194I(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CAAATGTCATGCACATCGAGT	0.512																																							uc002dlm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(580-582)ATG>ATC		sodium channel, nonvoltage-gated 1, gamma	Amiloride(DB00594)|Triamterene(DB00384)						183.0	180.0	181.0					16																	23200956		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23200956G>C	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.582G>C	16.37:g.23200956G>C	ENSP00000300061:p.Met194Ile						p.M194I	NM_001039	NP_001030	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	3	721	+			194			Extracellular (By similarity).		P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.582G>C	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	G	8.543	0.873652	0.17322	.	.	ENSG00000166828	ENST00000300061	T	0.70164	-0.46	5.75	3.8	0.43715	.	0.073233	0.64402	D	0.000020	T	0.34600	0.0903	N	0.01352	-0.895	0.32602	N	0.525736	B	0.06786	0.001	B	0.10450	0.005	T	0.32428	-0.9907	10	0.20519	T	0.43	-34.8298	10.0893	0.42436	0.1545:0.0:0.8455:0.0	.	194	P51170	SCNNG_HUMAN	I	194	ENSP00000300061:M194I	ENSP00000300061:M194I	M	+	3	0	SCNN1G	23108457	1.000000	0.71417	0.551000	0.28230	0.475000	0.33008	3.387000	0.52501	0.787000	0.33731	0.511000	0.50034	ATG		0.512	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		63	228	0	0	0	0.01441	0	63	228				
C16orf93	90835	broad.mit.edu	37	16	30768826	30768826	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr16:30768826G>A	ENST00000543610.1	-	9	1928	c.967C>T	c.(967-969)Ccg>Tcg	p.P323S	C16orf93_ENST00000541260.1_Missense_Mutation_p.P388S|PHKG2_ENST00000563588.1_3'UTR|PHKG2_ENST00000424889.3_Intron	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	323								p.P286S(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						CCTTTACCCGGAGGTAGCTGG	0.597																																							uc002dzm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(967-969)CCG>TCG		hypothetical protein LOC90835							200.0	204.0	203.0					16																	30768826		2197	4300	6497	SO:0001583	missense	90835							g.chr16:30768826G>A	BC042548	CCDS32434.1, CCDS32434.2, CCDS55993.1	16p11.2	2012-10-10			ENSG00000196118	ENSG00000196118			28078	protein-coding gene	gene with protein product							Standard	NM_001195620		Approved	MGC104706	uc002dzm.3	A1A4V9	OTTHUMG00000167926	ENST00000543610.1:c.967C>T	16.37:g.30768826G>A	ENSP00000437532:p.Pro323Ser					C16orf93_uc002dzn.2_Missense_Mutation_p.P388S|C16orf93_uc002dzo.2_Missense_Mutation_p.P286S	p.P323S	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN			9	1298	-			323					A1A4V8|F5GX13|Q569G2	Missense_Mutation	SNP	ENST00000543610.1	37	c.967C>T	CCDS32434.2	.	.	.	.	.	.	.	.	.	.	G	9.666	1.145311	0.21288	.	.	ENSG00000196118	ENST00000354963;ENST00000543610	.	.	.	5.55	1.01	0.19927	.	0.597682	0.16013	N	0.233682	T	0.29556	0.0737	L	0.40543	1.245	0.09310	N	1	B;B;B	0.19331	0.017;0.001;0.035	B;B;B	0.14578	0.011;0.005;0.01	T	0.17745	-1.0359	9	0.27082	T	0.32	-2.6575	8.461	0.32927	0.0847:0.4567:0.4585:0.0	.	286;95;323	A1A4V9-2;A1A4V9-3;A1A4V9	.;.;CP093_HUMAN	S	286;323	.	ENSP00000347050:P286S	P	-	1	0	C16orf93	30676327	0.748000	0.28294	0.089000	0.20774	0.410000	0.31052	0.379000	0.20585	0.369000	0.24510	0.655000	0.94253	CCG		0.597	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397089.1	NM_001014979		105	314	0	0	0	0.01441	0	105	314				
HYDIN	54768	broad.mit.edu	37	16	71025246	71025246	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr16:71025246G>T	ENST00000393567.2	-	25	3989	c.3839C>A	c.(3838-3840)aCg>aAg	p.T1280K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1280					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.T1280K(1)|p.T1232K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAAGCTTTCGTTTTTCTTAG	0.463																																							uc002ezr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(3838-3840)ACG>AAG		hydrocephalus inducing isoform a							126.0	116.0	119.0					16																	71025246		1905	4143	6048	SO:0001583	missense	54768							g.chr16:71025246G>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3839C>A	16.37:g.71025246G>T	ENSP00000377197:p.Thr1280Lys						p.T1280K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			25	3967	-		Ovarian(137;0.0654)	1280					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.3839C>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	0.068	-1.208540	0.01568	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00882	5.58	3.78	-1.77	0.07982	.	605.235000	0.01291	U	0.010023	T	0.00496	0.0016	N	0.03608	-0.345	0.09310	N	0.999999	B	0.26672	0.156	B	0.20767	0.031	T	0.42068	-0.9473	10	0.06099	T	0.92	.	3.4852	0.07617	0.4061:0.0:0.419:0.175	.	1280	F8WD23	.	K	1280	ENSP00000377197:T1280K	ENSP00000313052:T1280K	T	-	2	0	HYDIN	69582747	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.546000	0.02188	-0.281000	0.09141	-1.407000	0.01130	ACG		0.463	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			29	65	1	0	1.74807e-11	0.010818	2.0189e-11	29	65				
DNAH9	1770	broad.mit.edu	37	17	11696840	11696840	+	Silent	SNP	G	G	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr17:11696840G>T	ENST00000262442.4	+	42	8150	c.8082G>T	c.(8080-8082)gtG>gtT	p.V2694V	DNAH9_ENST00000454412.2_Silent_p.V2694V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2694					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.V2694V(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTCCTCAGTGGAATGTGTGA	0.393																																							uc002gne.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(8080-8082)GTG>GTT		dynein, axonemal, heavy chain 9 isoform 2							144.0	134.0	137.0					17																	11696840		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11696840G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8082G>T	17.37:g.11696840G>T						DNAH9_uc010coo.2_Silent_p.V1988V	p.V2694V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	42	8150	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2694					A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.8082G>T	CCDS11160.1																																																																																				0.393	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		45	115	1	0	3.54909e-21	0.011902	4.40947e-21	45	115				
THEG	51298	broad.mit.edu	37	19	362332	362332	+	Silent	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr19:362332G>A	ENST00000342640.4	-	8	1050	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	THEG_ENST00000346878.2_Silent_p.I312I	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	336					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)		p.I336I(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGGAGATGATCCGGGGGC	0.617																																							uc002lol.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1006-1008)ATC>ATT		Theg homolog isoform 1							127.0	124.0	125.0					19																	362332		2203	4300	6503	SO:0001819	synonymous_variant	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:362332G>A	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.1008C>T	19.37:g.362332G>A						THEG_uc002lom.2_Silent_p.I312I	p.I336I	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1047	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	336			THEG 6.		A6NMJ8	Silent	SNP	ENST00000342640.4	37	c.1008C>T	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	G	7.990	0.753086	0.15778	.	.	ENSG00000105549	ENST00000530711	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	T	0.67221	0.2870	.	.	.	0.40006	D	0.975228	.	.	.	.	.	.	T	0.72154	-0.4376	5	0.87932	D	0	-10.5345	11.4591	0.50199	0.0:0.0:1.0:0.0	.	.	.	.	L	114	.	ENSP00000431699:S114L	S	-	2	0	THEG	313332	0.001000	0.12720	0.027000	0.17364	0.352000	0.29268	0.492000	0.22435	2.053000	0.61076	0.603000	0.83216	TCA		0.617	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			39	59	0	0	0	0.006999	0	39	59				
STK11	6794	broad.mit.edu	37	19	1221229	1221229	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr19:1221229G>T	ENST00000326873.7	+	6	1925	c.752G>T	c.(751-753)gGt>gTt	p.G251V		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(2)|p.Y246fs*3(1)|p.G251V(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCACCACGGGTCTGTACCCC	0.592		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													uc002lrl.1		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	D|Mis|N|F|S	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		jejunal harmartoma|ovarian|testicular|pancreatic	NSCLC|pancreatic		24	Whole gene deletion(20)|Unknown(2)|Substitution - Missense(1)|Deletion - Frameshift(1)	p.0?(19)|p.?(2)|p.Y246fs*3(1)	cervix(14)|lung(6)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266						c.(751-753)GGT>GTT		serine/threonine protein kinase 11							60.0	65.0	63.0					19																	1221229		2005	4157	6162	SO:0001583	missense	6794	Peutz-Jeghers_syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1221229G>T	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.752G>T	19.37:g.1221229G>T	ENSP00000324856:p.Gly251Val	TSP Lung(3;<1E-08)					p.G251V	NM_000455	NP_000446	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1867	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	251			Protein kinase.		B2RBX7|E7EW76	Missense_Mutation	SNP	ENST00000326873.7	37	c.752G>T	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737414	0.89482	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.88124	-2.34	4.54	4.54	0.55810	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.138939	0.64402	D	0.000003	D	0.96355	0.8811	H	0.98965	4.385	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98208	1.0471	10	0.87932	D	0	-33.7161	16.4287	0.83833	0.0:0.0:1.0:0.0	.	251	Q15831	STK11_HUMAN	V	251	ENSP00000324856:G251V	ENSP00000324856:G251V	G	+	2	0	STK11	1172229	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.492000	0.97957	2.355000	0.79922	0.561000	0.74099	GGT		0.592	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		10	13	1	0	1.58986e-06	0.008291	1.76174e-06	10	13				
ZNF536	9745	broad.mit.edu	37	19	30936284	30936284	+	Silent	SNP	G	G	C			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr19:30936284G>C	ENST00000355537.3	+	2	1962	c.1815G>C	c.(1813-1815)cgG>cgC	p.R605R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	605					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.R605R(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAAGCAGTCGGGATTTTTTGT	0.552																																							uc002nsu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(1813-1815)CGG>CGC		zinc finger protein 536							94.0	101.0	99.0					19																	30936284		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936284G>C		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1815G>C	19.37:g.30936284G>C						ZNF536_uc010edd.1_Silent_p.R605R	p.R605R	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1953	+	Esophageal squamous(110;0.0834)		605					A2RU18	Silent	SNP	ENST00000355537.3	37	c.1815G>C	CCDS32984.1																																																																																				0.552	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		52	121	0	0	0	0.01441	0	52	121				
ADD2	119	broad.mit.edu	37	2	70905951	70905951	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr2:70905951G>A	ENST00000264436.4	-	11	1712	c.1268C>T	c.(1267-1269)gCc>gTc	p.A423V	ADD2_ENST00000430656.1_Missense_Mutation_p.A439V|ADD2_ENST00000355733.3_Missense_Mutation_p.A423V|ADD2_ENST00000407644.2_Missense_Mutation_p.A423V|ADD2_ENST00000413157.2_Missense_Mutation_p.A423V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	423					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)	p.A423V(2)|p.A439V(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CTGCTTCTGGGCATGCTGTCG	0.607																																							uc002sgz.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)|pancreas(1)	3						c.(1267-1269)GCC>GTC		adducin 2 isoform a							134.0	135.0	135.0					2																	70905951		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70905951G>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1268C>T	2.37:g.70905951G>A	ENSP00000264436:p.Ala423Val					ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.A423V|ADD2_uc002sha.2_Intron|ADD2_uc002sgx.2_Missense_Mutation_p.A423V|ADD2_uc010fdt.1_Missense_Mutation_p.A423V|ADD2_uc002shc.1_Missense_Mutation_p.A423V|ADD2_uc002shd.1_Intron|ADD2_uc010fdu.1_Missense_Mutation_p.A439V	p.A423V	NM_001617	NP_001608	P35612	ADDB_HUMAN			11	1733	-			423					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.1268C>T	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602458	0.66445	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	5.23	5.23	0.72850	.	0.054969	0.64402	D	0.000001	T	0.30198	0.0757	L	0.58101	1.795	0.46279	D	0.998961	P;P;B;D	0.61080	0.949;0.763;0.404;0.989	P;B;B;P	0.56042	0.642;0.408;0.184;0.79	T	0.01269	-1.1400	10	0.16896	T	0.51	-28.6013	16.343	0.83101	0.0:0.0:1.0:0.0	.	439;423;423;423	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	V	423;423;423;423;423;439	ENSP00000264436:A423V;ENSP00000384677:A423V;ENSP00000347972:A423V;ENSP00000388072:A423V;ENSP00000398112:A439V	ENSP00000264436:A423V	A	-	2	0	ADD2	70759459	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.472000	0.73567	2.716000	0.92895	0.655000	0.94253	GCC		0.607	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		5	235	0	0	0	0.001168	0	5	235				
AAMP	14	broad.mit.edu	37	2	219132260	219132260	+	Silent	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr2:219132260G>A	ENST00000248450.4	-	3	521	c.351C>T	c.(349-351)ttC>ttT	p.F117F	PNKD_ENST00000248451.3_5'Flank|AAMP_ENST00000420660.1_Silent_p.F98F|AAMP_ENST00000444053.1_Silent_p.F118F|PNKD_ENST00000273077.4_5'Flank			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	117					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)	p.F117F(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCGCCATACGAAGGCTTTGT	0.552																																							uc002vhk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(349-351)TTC>TTT		angio-associated, migratory cell protein							106.0	106.0	106.0					2																	219132260		2203	4300	6503	SO:0001819	synonymous_variant	14				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	g.chr2:219132260G>A	AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"""WD repeat domain containing"""	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.351C>T	2.37:g.219132260G>A						PNKD_uc002vhn.2_5'Flank|AAMP_uc002vhj.2_Silent_p.F98F|AAMP_uc010fvo.2_Silent_p.F117F|AAMP_uc002vhl.2_Silent_p.F118F|PNKD_uc002vhm.1_5'Flank	p.F117F	NM_001087	NP_001078	Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	435	-		Renal(207;0.0474)	117			WD 1.		Q8WUJ9|Q96H92	Silent	SNP	ENST00000248450.4	37	c.351C>T	CCDS33378.1																																																																																				0.552	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087		27	71	0	0	0	0.005524	0	27	71				
GGTLC1	92086	broad.mit.edu	37	20	23967157	23967157	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr20:23967157A>G	ENST00000335694.4	-	2	296	c.92T>C	c.(91-93)aTg>aCg	p.M31T	GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	31					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)	p.M31T(6)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTCATCCGGCATGTAGAACTC	0.622																																							uc002wts.2		NA																	6	Substitution - Missense(6)		lung(4)|NS(2)	ovary(1)	1						c.(91-93)ATG>ACG		gamma-glutamyltransferase light chain 1							67.0	61.0	63.0					20																	23967157		2203	4300	6503	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23967157A>G	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.92T>C	20.37:g.23967157A>G	ENSP00000337587:p.Met31Thr					GGTLC1_uc002wtu.2_Missense_Mutation_p.M31T	p.M31T	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN			2	225	-			31					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.92T>C	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	a	0	-2.745202	0.00087	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.05786	3.39;3.39;3.39	0.844	-1.69	0.08186	.	0.459428	0.22918	N	0.054055	T	0.01092	0.0036	N	0.00332	-1.63	0.20403	N	0.999909	B	0.02656	0.0	B	0.01281	0.0	T	0.28996	-1.0026	10	0.02654	T	1	-29.1837	4.9338	0.13930	0.5039:0.0:0.4961:0.0	.	31	Q9BX51	GGTL1_HUMAN	T	31	ENSP00000286890:M31T;ENSP00000278765:M31T;ENSP00000337587:M31T	ENSP00000278765:M31T	M	-	2	0	GGTLC1	23915157	0.993000	0.37304	0.024000	0.17045	0.024000	0.10985	1.453000	0.35167	-1.885000	0.01118	-1.888000	0.00539	ATG		0.622	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		3	31	0	0	0	0.004672	0	3	31				
CDH26	60437	broad.mit.edu	37	20	58547105	58547105	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr20:58547105C>T	ENST00000244047.5	+	4	631	c.320C>T	c.(319-321)tCt>tTt	p.S107F	CDH26_ENST00000348616.4_Missense_Mutation_p.S107F			Q8IXH8	CAD26_HUMAN	cadherin 26	107	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S107F(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GGTTTGTTTTCTCTAGAAGAT	0.388																																							uc002ybe.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(319-321)TCT>TTT		cadherin-like 26 isoform a							156.0	146.0	150.0					20																	58547105		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58547105C>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.320C>T	20.37:g.58547105C>T	ENSP00000244047:p.Ser107Phe					CDH26_uc010zzy.1_RNA	p.S107F	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		4	620	+	all_lung(29;0.00963)		107			Extracellular (Potential).|Cadherin 1.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.320C>T		.	.	.	.	.	.	.	.	.	.	.	21.6	4.171688	0.78452	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.61980	0.06;0.06	4.98	4.98	0.66077	.	0.058843	0.64402	D	0.000001	T	0.70351	0.3214	M	0.72479	2.2	0.54753	D	0.999982	B	0.32324	0.364	B	0.43950	0.437	T	0.67589	-0.5632	10	0.28530	T	0.3	.	17.3922	0.87435	0.0:1.0:0.0:0.0	.	107	Q8IXH8-4	.	F	107	ENSP00000244047:S107F;ENSP00000339390:S107F	ENSP00000244047:S107F	S	+	2	0	CDH26	57980500	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	1.917000	0.39996	2.466000	0.83321	0.650000	0.86243	TCT		0.388	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		37	102	0	0	0	0.019004	0	37	102				
SON	6651	broad.mit.edu	37	21	34927023	34927023	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr21:34927023C>A	ENST00000356577.4	+	3	5961	c.5486C>A	c.(5485-5487)tCc>tAc	p.S1829Y	SON_ENST00000290239.6_Missense_Mutation_p.S1829Y|SON_ENST00000381679.4_Missense_Mutation_p.S1829Y|SON_ENST00000300278.4_Missense_Mutation_p.S1829Y|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1829					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S1829Y(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGTAAGCGTTCCAAATCTTCT	0.418																																							uc002yse.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(5485-5487)TCC>TAC		SON DNA-binding protein isoform F							85.0	86.0	86.0					21																	34927023		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34927023C>A	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.5486C>A	21.37:g.34927023C>A	ENSP00000348984:p.Ser1829Tyr					SON_uc002ysb.1_Missense_Mutation_p.S1829Y|SON_uc002ysc.2_Missense_Mutation_p.S1829Y|SON_uc002ysd.2_Missense_Mutation_p.S820Y|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.S820Y	p.S1829Y	NM_138927	NP_620305	P18583	SON_HUMAN			3	5535	+			1829					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.5486C>A	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.06|15.06	2.721847|2.721847	0.48728|0.48728	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000436227|ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	.|T;T;T;T	.|0.19938	.|2.11;2.11;2.11;2.11	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.50627	.|D	.|0.000116	T|T	0.46521|0.46521	0.1397|0.1397	L|L	0.56769|0.56769	1.78|1.78	0.52501|0.52501	D|D	0.999959|0.999959	.|D;D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.999;0.996;0.999;0.998;0.998	T|T	0.36089|0.36089	-0.9762|-0.9762	5|10	.|0.87932	.|D	.|0	.|.	19.7329|19.7329	0.96190|0.96190	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1829;1829;1510;1829;1829	.|P18583-10;P18583;P18583-2;P18583-3;P18583-6	.|.;SON_HUMAN;.;.;.	T|Y	824|1829	.|ENSP00000348984:S1829Y;ENSP00000290239:S1829Y;ENSP00000300278:S1829Y;ENSP00000371095:S1829Y	.|ENSP00000290239:S1829Y	P|S	+|+	1|2	0|0	SON|SON	33848893|33848893	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	6.193000|6.193000	0.72075|0.72075	2.663000|2.663000	0.90544|0.90544	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.418	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		36	53	1	0	8.16277e-20	0.006999	9.99026e-20	36	53				
MYO18B	84700	broad.mit.edu	37	22	26351204	26351204	+	Silent	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr22:26351204G>A	ENST00000407587.2	+	39	6202	c.6033G>A	c.(6031-6033)gcG>gcA	p.A2011A	MYO18B_ENST00000335473.7_Silent_p.A2010A|MYO18B_ENST00000536101.1_Silent_p.A2010A			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2010	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A2011A(2)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTTCACAGGCGGCCACCTCCG	0.647																																							uc003abz.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(6028-6030)GCG>GCA		myosin XVIIIB							19.0	24.0	22.0					22																	26351204		1938	4124	6062	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26351204G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6033G>A	22.37:g.26351204G>A						MYO18B_uc003aca.1_Silent_p.A1891A|MYO18B_uc010guy.1_Silent_p.A1892A|MYO18B_uc010guz.1_Silent_p.A1890A|MYO18B_uc011aka.1_Silent_p.A1164A|MYO18B_uc011akb.1_Silent_p.A1523A|MYO18B_uc010gva.1_Silent_p.A8A	p.A2010A	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			39	6280	+			2010			Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.6030G>A																																																																																					0.647	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		5	11	0	0	0	0.001168	0	5	11				
SCO2	9997	broad.mit.edu	37	22	50962600	50962600	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr22:50962600C>T	ENST00000543927.1	-	2	447	c.241G>A	c.(241-243)Gag>Aag	p.E81K	SCO2_ENST00000252785.3_Missense_Mutation_p.E81K|SCO2_ENST00000535425.1_Missense_Mutation_p.E81K|SCO2_ENST00000395693.3_Missense_Mutation_p.E81K|CTA-384D8.36_ENST00000608319.1_RNA	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	81					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|eye development (GO:0001654)|in utero embryonic development (GO:0001701)|muscle system process (GO:0003012)|oxidation-reduction process (GO:0055114)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|nucleus (GO:0005634)	copper ion binding (GO:0005507)	p.E81K(2)		endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCTCCTTCTCAGCCCTCAGG	0.692																																							uc003bma.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(241-243)GAG>AAG		cytochrome oxidase deficient homolog 2							25.0	29.0	28.0					22																	50962600		2197	4278	6475	SO:0001583	missense	9997				cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding	g.chr22:50962600C>T	AL021683	CCDS14095.1	22q13.33	2014-01-30	2012-10-15		ENSG00000130489	ENSG00000130489		"""Mitochondrial respiratory chain complex assembly factors"""	10604	protein-coding gene	gene with protein product		604272	"""SCO (cytochrome oxidase deficient, yeast) homolog 2"", ""SCO cytochrome oxidase deficient homolog 2 (yeast)"", ""myopia 6"""	MYP6		10218584, 16091356, 23643385	Standard	NM_005138		Approved	SCO1L	uc003bma.3	O43819	OTTHUMG00000150251	ENST00000543927.1:c.241G>A	22.37:g.50962600C>T	ENSP00000444433:p.Glu81Lys					SCO2_uc003blz.3_Missense_Mutation_p.E81K	p.E81K	NM_005138	NP_005129	O43819	SCO2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	417	-		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	81					Q3T1B5|Q9UK87	Missense_Mutation	SNP	ENST00000543927.1	37	c.241G>A	CCDS14095.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741714	0.49151	.	.	ENSG00000130489	ENST00000395693;ENST00000543927;ENST00000535425;ENST00000252785;ENST00000439934;ENST00000423348	D;D;D;D;T;T	0.85088	-1.94;-1.94;-1.94;-1.94;-0.92;-0.92	4.95	2.71	0.32032	Thioredoxin-like fold (1);	0.276773	0.29286	N	0.012594	T	0.78175	0.4242	L	0.47190	1.495	0.50813	D	0.999895	B	0.10296	0.003	B	0.22386	0.039	T	0.71882	-0.4458	10	0.35671	T	0.21	-23.04	7.5351	0.27706	0.1645:0.7458:0.0:0.0897	.	81	O43819	SCO2_HUMAN	K	81	ENSP00000379046:E81K;ENSP00000444433:E81K;ENSP00000444242:E81K;ENSP00000252785:E81K;ENSP00000415642:E81K;ENSP00000403570:E81K	ENSP00000252785:E81K	E	-	1	0	SCO2	49309466	0.962000	0.33011	0.387000	0.26183	0.003000	0.03518	2.201000	0.42734	1.240000	0.43803	0.563000	0.77884	GAG		0.692	SCO2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317091.1	NM_005138		18	31	0	0	0	0.012319	0	18	31				
TRIM71	131405	broad.mit.edu	37	3	32932170	32932170	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr3:32932170G>A	ENST00000383763.5	+	4	1537	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	492					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D492N(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGCCACAGGCGATGGCCTCAA	0.587																																							uc003cff.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1474-1476)GAT>AAT		tripartite motif-containing 71							47.0	50.0	49.0					3																	32932170		2039	4194	6233	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32932170G>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1474G>A	3.37:g.32932170G>A	ENSP00000373272:p.Asp492Asn						p.D492N	NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN			4	1537	+			492			Filamin.			Missense_Mutation	SNP	ENST00000383763.5	37	c.1474G>A	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952651	0.73787	.	.	ENSG00000206557	ENST00000383763	D	0.84660	-1.88	5.9	5.9	0.94986	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.300312	0.40302	N	0.001134	D	0.83064	0.5173	L	0.49126	1.545	0.80722	D	1	P	0.50528	0.936	B	0.43990	0.438	T	0.79638	-0.1720	10	0.13853	T	0.58	-15.9256	18.8264	0.92121	0.0:0.0:1.0:0.0	.	492	Q2Q1W2	LIN41_HUMAN	N	492	ENSP00000373272:D492N	ENSP00000373272:D492N	D	+	1	0	TRIM71	32907174	1.000000	0.71417	0.166000	0.22797	0.938000	0.57974	9.869000	0.99810	2.802000	0.96397	0.650000	0.86243	GAT		0.587	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		27	53	0	0	0	0.007291	0	27	53				
CTNNB1	1499	broad.mit.edu	37	3	41266113	41266113	+	Missense_Mutation	SNP	C	C	T	rs121913416|rs121913403		TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr3:41266113C>T	ENST00000349496.5	+	3	390	c.110C>T	c.(109-111)tCt>tTt	p.S37F	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37F|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37F|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37F|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30F	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes). {ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10666372}.|S -> C (in PTR, hepatoblastoma and ovarian cancer). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:9927029}.|S -> F (in PTR). {ECO:0000269|PubMed:10192393}.|S -> Y (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|SG -> W (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S37F(172)|p.S37C(141)|p.A5_A80del(53)|p.S37Y(31)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GGAATCCATTCTGGTGCCACT	0.498	S37C(JHUEM2_ENDOMETRIUM)|S37C(SNU398_LIVER)|S37F(HUTU80_SMALL_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	Colon(6;3 56 14213 18255)	uc010hia.1	S37F(HUTU80_SMALL_INTESTINE)|S37C(SNU398_LIVER)|S37C(JHUEM2_ENDOMETRIUM)	15		Dom	yes		3	3p22-p21.3	1499	H|Mis|T	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	474	Substitution - Missense(344)|Deletion - In frame(102)|Complex - deletion inframe(18)|Unknown(7)|Deletion - Frameshift(3)	p.S37F(147)|p.S37C(124)|p.A5_A80del(63)|p.S37A(59)|p.S37Y(23)|p.S37P(16)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(4)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32_S47del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.GIHS34?(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.V22_T102del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.G34_S37del(1)|p.I35_S37>T(1)|p.I35_K170del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.S37S(1)|p.S37T(1)|p.V22_S71>A(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.V22_Y64del(1)|p.M8_A80del(1)|p.S33_S37del(1)|p.E9_I140del(1)|p.Y30_T40del(1)|p.M1_T42del(1)|p.S37_G38>W(1)|p.A5_Q143>E(1)|p.I35_G38del(1)|p.H36_E53>L(1)|p.A5_Q72del(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.S37_A39>S(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.I35_T41del(1)|p.W25_A80del(1)|p.A20_Q72del(1)|p.A20_S111del(1)	liver(145)|endometrium(64)|stomach(38)|skin(34)|ovary(33)|central_nervous_system(28)|pancreas(28)|large_intestine(22)|pituitary(22)|lung(21)|biliary_tract(15)|thyroid(4)|soft_tissue(4)|urinary_tract(4)|small_intestine(3)|oesophagus(3)|adrenal_gland(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|bone(1)|breast(1)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166						c.(109-111)TCT>TTT		beta-catenin	Lithium(DB01356)						93.0	78.0	83.0					3																	41266113		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma_Familial_Clustering_of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266113C>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.110C>T	3.37:g.41266113C>T	ENSP00000344456:p.Ser37Phe					CTNNB1_uc003ckp.2_Missense_Mutation_p.S37F|CTNNB1_uc003ckq.2_Missense_Mutation_p.S37F|CTNNB1_uc003ckr.2_Missense_Mutation_p.S37F|CTNNB1_uc011azf.1_Missense_Mutation_p.S30F|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA	p.S37F	NM_001904	NP_001895	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	4	266	+			37		S -> C (in PTR, hepatoblastoma and ovarian cancer).|SG -> W (in hepatocellular carcinoma).|S -> F (in PTR).|S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> Y (in hepatocellular carcinoma).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.110C>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513375	0.85389	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75297	-0.3367	10	0.87932	D	0	-15.9763	19.9596	0.97236	0.0:1.0:0.0:0.0	.	37	P35222	CTNB1_HUMAN	F	30;37;37;37;37;30;37;37;37	ENSP00000400508:S30F;ENSP00000385604:S37F;ENSP00000412219:S37F;ENSP00000379486:S37F;ENSP00000344456:S37F;ENSP00000411226:S30F;ENSP00000379488:S37F;ENSP00000409302:S37F;ENSP00000401599:S37F	ENSP00000344456:S37F	S	+	2	0	CTNNB1	41241117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.726000	0.93360	0.655000	0.94253	TCT		0.498	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		15	31	0	0	0	0.003163	0	15	31				
SEMA3F	6405	broad.mit.edu	37	3	50211518	50211518	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr3:50211518G>T	ENST00000002829.3	+	4	791	c.307G>T	c.(307-309)Gaa>Taa	p.E103*	SEMA3F_ENST00000413852.1_Nonsense_Mutation_p.E35*|SEMA3F_ENST00000434342.1_Nonsense_Mutation_p.E103*|MIR566_ENST00000385187.1_RNA	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	103	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)	p.E103*(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GCGCATCGAGGAATGCGTGCT	0.627																																							uc003cyj.2		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(1)|skin(1)	2						c.(307-309)GAA>TAA		semaphorin 3F precursor							85.0	83.0	84.0					3																	50211518		2203	4300	6503	SO:0001587	stop_gained	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50211518G>T	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.307G>T	3.37:g.50211518G>T	ENSP00000002829:p.Glu103*					SEMA3F_uc003cyk.2_Nonsense_Mutation_p.E103*	p.E103*	NM_004186	NP_004177	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	4	505	+			103			Sema.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Nonsense_Mutation	SNP	ENST00000002829.3	37	c.307G>T	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959623	0.74016	.	.	ENSG00000001617	ENST00000414301;ENST00000450338;ENST00000413852;ENST00000002829;ENST00000434342;ENST00000420831	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.6972	0.88285	0.0:0.0:1.0:0.0	.	.	.	.	X	103;103;35;103;103;61	.	ENSP00000002829:E103X	E	+	1	0	SEMA3F	50186522	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	3.865000	0.56033	2.598000	0.87819	0.561000	0.74099	GAA		0.627	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		19	48	1	0	1.10923e-09	0.016522	1.26329e-09	19	48				
HTR3C	170572	broad.mit.edu	37	3	183773963	183773963	+	Splice_Site	SNP	A	A	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr3:183773963A>T	ENST00000318351.1	+	4	313		c.e4-1			NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.?(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	GCCCTGATGCAGGTATGGGAC	0.488																																							uc003fmk.2		NA																	1	Unknown(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.e4-2		5-hydroxytryptamine receptor 3 subunit C							115.0	109.0	111.0					3																	183773963		2203	4300	6503	SO:0001630	splice_region_variant	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183773963A>T	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.280-1A>T	3.37:g.183773963A>T							p.V94_splice	NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		4	314	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)							A2RRR5	Splice_Site	SNP	ENST00000318351.1	37	c.280_splice	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.215928	0.58452	.	.	ENSG00000178084	ENST00000318351	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.495	0.44772	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HTR3C	185256657	0.974000	0.33945	0.489000	0.27452	0.405000	0.30901	2.554000	0.45845	1.984000	0.57885	0.529000	0.55759	.		0.488	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770	Intron	37	44	0	0	0	0.017118	0	37	44				
PPP3CA	5530	broad.mit.edu	37	4	101947129	101947129	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr4:101947129T>C	ENST00000394854.3	-	14	2142	c.1459A>G	c.(1459-1461)Aga>Gga	p.R487G	PPP3CA_ENST00000512215.1_Missense_Mutation_p.R255G|PPP3CA_ENST00000394853.4_Missense_Mutation_p.R477G|PPP3CA_ENST00000323055.6_Missense_Mutation_p.R435G|PPP3CA_ENST00000507176.1_Missense_Mutation_p.R389G|PPP3CA_ENST00000523694.2_Missense_Mutation_p.R420G	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	487	Inhibitory domain.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)	p.R487G(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		ATGGCATCTCTGCGAGGCGGC	0.478																																							uc011cen.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1459-1461)AGA>GGA		protein phosphatase 3, catalytic subunit, alpha							228.0	215.0	219.0					4																	101947129		2203	4300	6503	SO:0001583	missense	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:101947129T>C		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.1459A>G	4.37:g.101947129T>C	ENSP00000378323:p.Arg487Gly					PPP3CA_uc003hvu.2_Missense_Mutation_p.R477G|PPP3CA_uc010ilj.2_Missense_Mutation_p.R435G|PPP3CA_uc003hvt.2_Missense_Mutation_p.R464G|PPP3CA_uc003hvs.2_Missense_Mutation_p.R420G|PPP3CA_uc010ilk.2_Missense_Mutation_p.R255G	p.R487G	NM_000944	NP_000935	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	14	2134	-			487			Inhibitory domain.		A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	ENST00000394854.3	37	c.1459A>G	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.753015	0.49362	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T;T	0.47869	0.83;2.41;2.44;2.47;2.16;2.42	5.79	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.42337	0.1198	N	0.14661	0.345	0.48901	D	0.999727	B;P;B;B;B;B	0.41643	0.255;0.758;0.255;0.249;0.038;0.038	B;P;B;B;B;B	0.51415	0.199;0.669;0.199;0.274;0.044;0.071	T	0.31641	-0.9936	10	0.37606	T	0.19	-14.3264	11.7653	0.51926	0.0:0.0:0.2803:0.7197	.	487;255;435;477;389;420	Q08209;A8W6Z8;A8W6Z7;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.;.	G	255;487;435;477;389;420	ENSP00000422781:R255G;ENSP00000378323:R487G;ENSP00000320580:R435G;ENSP00000378322:R477G;ENSP00000422990:R389G;ENSP00000429350:R420G	ENSP00000320580:R435G	R	-	1	2	PPP3CA	102166152	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.686000	0.46968	0.978000	0.38470	0.533000	0.62120	AGA		0.478	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		4	226	0	0	0	0.009096	0	4	226				
TLR3	7098	broad.mit.edu	37	4	187003653	187003653	+	Silent	SNP	A	A	G			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr4:187003653A>G	ENST00000296795.3	+	4	917	c.813A>G	c.(811-813)ctA>ctG	p.L271L	TLR3_ENST00000508051.1_3'UTR|TLR3_ENST00000504367.1_5'UTR	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	271					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.L271L(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TCTTGGGACTAAAGTGGACAA	0.418																																							uc003iyq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|prostate(1)|lung(1)|breast(1)	5						c.(811-813)CTA>CTG		toll-like receptor 3 precursor							123.0	115.0	118.0					4																	187003653		2203	4300	6503	SO:0001819	synonymous_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187003653A>G	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.813A>G	4.37:g.187003653A>G						TLR3_uc011ckz.1_5'UTR|TLR3_uc003iyr.2_5'UTR	p.L271L	NM_003265	NP_003256	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	914	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	271			Lumenal (Potential).		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	c.813A>G	CCDS3846.1																																																																																				0.418	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			50	88	0	0	0	0.01441	0	50	88				
PDGFRB	5159	broad.mit.edu	37	5	149511607	149511607	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr5:149511607T>G	ENST00000261799.4	-	8	1647	c.1178A>C	c.(1177-1179)cAc>cCc	p.H393P		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	393	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.H393P(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CATGGTGTAGTGGCCAGCCTC	0.582			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																		uc003lro.2		NA		Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(1177-1179)CAC>CCC		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						111.0	92.0	99.0					5																	149511607		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149511607T>G	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1178A>C	5.37:g.149511607T>G	ENSP00000261799:p.His393Pro					PDGFRB_uc010jhd.2_Missense_Mutation_p.H232P	p.H393P	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	1647	-		all_hematologic(541;0.224)	393			Ig-like C2-type 4.|Extracellular (Potential).		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.1178A>C	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	T	11.90	1.776629	0.31411	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.65549	-0.16	5.52	-1.06	0.10002	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	1.332720	0.05041	N	0.476357	T	0.53642	0.1809	L	0.32530	0.975	0.09310	N	1	B;B	0.26775	0.159;0.119	B;B	0.37480	0.251;0.143	T	0.49606	-0.8922	10	0.37606	T	0.19	.	5.4524	0.16572	0.208:0.3538:0.0:0.4382	.	393;393	A8KAM8;P09619	.;PGFRB_HUMAN	P	393;63	ENSP00000261799:H393P	ENSP00000261799:H393P	H	-	2	0	PDGFRB	149491800	0.000000	0.05858	0.036000	0.18154	0.994000	0.84299	-2.216000	0.01221	-0.168000	0.10853	0.533000	0.62120	CAC		0.582	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		8	20	0	0	0	0.008291	0	8	20				
KIF4B	285643	broad.mit.edu	37	5	154396899	154396899	+	Silent	SNP	C	C	G			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr5:154396899C>G	ENST00000435029.4	+	1	3640	c.3480C>G	c.(3478-3480)gtC>gtG	p.V1160V		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1160	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.V1160V(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTAACCCTGTCTGTGCCACCC	0.532																																							uc010jih.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(3478-3480)GTC>GTG		kinesin family member 4B							95.0	97.0	97.0					5																	154396899		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396899C>G	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3480C>G	5.37:g.154396899C>G							p.V1160V	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3640	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1160			Interaction with PRC1 (By similarity).|Globular (By similarity).			Silent	SNP	ENST00000435029.4	37	c.3480C>G	CCDS47324.1																																																																																				0.532	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			28	61	0	0	0	0.007291	0	28	61				
RFPL4B	442247	broad.mit.edu	37	6	112671585	112671585	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr6:112671585T>A	ENST00000441065.2	+	3	987	c.675T>A	c.(673-675)aaT>aaA	p.N225K	RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	225	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.N225K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		ATGTTGACAATAATGTCCTCA	0.468																																							uc003pvx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(673-675)AAT>AAA		ret finger protein-like 4B							67.0	63.0	64.0					6																	112671585		2203	4300	6503	SO:0001583	missense	442247						zinc ion binding	g.chr6:112671585T>A	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.675T>A	6.37:g.112671585T>A	ENSP00000423391:p.Asn225Lys						p.N225K	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	3	987	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	225			B30.2/SPRY.		A2RU91	Missense_Mutation	SNP	ENST00000441065.2	37	c.675T>A	CCDS34515.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.659953	0.29515	.	.	ENSG00000251258	ENST00000441065	T	0.61158	0.13	4.02	-1.5	0.08691	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.422622	0.17437	N	0.174258	T	0.22781	0.0550	L	0.42581	1.335	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.27739	-1.0065	10	0.72032	D	0.01	.	5.017	0.14341	0.0:0.3866:0.1704:0.443	.	225	Q6ZWI9	RFPLB_HUMAN	K	225	ENSP00000423391:N225K	ENSP00000423391:N225K	N	+	3	2	RFPL4B	112778278	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.481000	0.06552	-0.223000	0.09943	0.533000	0.62120	AAT		0.468	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734		25	84	0	0	0	0.021523	0	25	84				
HGF	3082	broad.mit.edu	37	7	81332027	81332027	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr7:81332027A>G	ENST00000222390.5	-	18	2283	c.2057T>C	c.(2056-2058)aTg>aCg	p.M686T	HGF_ENST00000457544.2_Missense_Mutation_p.M681T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	686	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.M686T(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ACCAAGAACCATTCTCATTTT	0.373																																							uc003uhl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(2056-2058)ATG>ACG		hepatocyte growth factor isoform 1							108.0	104.0	105.0					7																	81332027		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81332027A>G		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.2057T>C	7.37:g.81332027A>G	ENSP00000222390:p.Met686Thr					HGF_uc003uhm.2_Missense_Mutation_p.M681T	p.M686T	NM_000601	NP_000592	P14210	HGF_HUMAN			18	2222	-			686			Peptidase S1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.2057T>C	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.702809	0.48307	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.87966	-2.32;-2.32	4.96	4.96	0.65561	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.181162	0.64402	D	0.000012	T	0.68641	0.3023	N	0.01352	-0.895	0.80722	D	1	P;P	0.35612	0.457;0.512	B;B	0.38616	0.181;0.277	T	0.71998	-0.4423	10	0.08179	T	0.78	.	14.9295	0.70903	1.0:0.0:0.0:0.0	.	681;686	P14210-3;P14210	.;HGF_HUMAN	T	686;681	ENSP00000222390:M686T;ENSP00000391238:M681T	ENSP00000222390:M686T	M	-	2	0	HGF	81169963	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.721000	0.84768	2.006000	0.58801	0.533000	0.62120	ATG		0.373	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		30	74	0	0	0	0.009535	0	30	74				
GRM3	2913	broad.mit.edu	37	7	86394780	86394780	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr7:86394780G>C	ENST00000361669.2	+	2	1418	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	GRM3_ENST00000439827.1_Missense_Mutation_p.E107Q|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.E105Q|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	107					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.E107Q(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CTATGCATTGGAGCAATCACT	0.408																																					GBM(52;969 1098 3139 52280)	GBM(52;969 1098 3139 52280)	uc003uid.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(319-321)GAG>CAG		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						198.0	180.0	186.0					7																	86394780		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86394780G>C		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.319G>C	7.37:g.86394780G>C	ENSP00000355316:p.Glu107Gln					GRM3_uc010lef.2_Missense_Mutation_p.E105Q|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron	p.E107Q	NM_000840	NP_000831	Q14832	GRM3_HUMAN			2	1418	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		107			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.319G>C	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225684	0.79576	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720	D;D;D	0.85484	-1.99;-1.99;-1.99	5.24	4.35	0.52113	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91838	0.7417	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.983;1.0	D	0.92889	0.6329	10	0.87932	D	0	.	14.4394	0.67306	0.0:0.0:0.8517:0.1483	.	107;107	G5E9K2;Q14832	.;GRM3_HUMAN	Q	107;107;105	ENSP00000355316:E107Q;ENSP00000398767:E107Q;ENSP00000378209:E105Q	ENSP00000355316:E107Q	E	+	1	0	GRM3	86232716	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	9.648000	0.98483	1.434000	0.47414	0.655000	0.94253	GAG		0.408	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			3	229	0	0	0	0.009096	0	3	229				
AASS	10157	broad.mit.edu	37	7	121717989	121717989	+	Silent	SNP	C	C	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr7:121717989C>T	ENST00000393376.1	-	22	2660	c.2565G>A	c.(2563-2565)acG>acA	p.T855T	AASS_ENST00000417368.2_Silent_p.T855T|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	855	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.T855T(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						CAAGATCAATCGTTTTATGTT	0.413																																							uc003vka.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2563-2565)ACG>ACA		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						272.0	286.0	281.0					7																	121717989		2203	4300	6503	SO:0001819	synonymous_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121717989C>T	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2565G>A	7.37:g.121717989C>T						AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.T855T|AASS_uc011knw.1_Silent_p.T343T	p.T855T	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			22	2661	-			855			Saccharopine dehydrogenase.		O95462	Silent	SNP	ENST00000393376.1	37	c.2565G>A	CCDS5783.1																																																																																				0.413	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		153	393	0	0	0	0.01441	0	153	393				
CA8	767	broad.mit.edu	37	8	61178489	61178489	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr8:61178489T>C	ENST00000317995.4	-	3	676	c.412A>G	c.(412-414)Atg>Gtg	p.M138V		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	138					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.M138V(1)		endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	CTTACCTCCATGGGAAAAGCT	0.363																																							uc003xtz.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(412-414)ATG>GTG		carbonic anhydrase VIII							68.0	66.0	67.0					8																	61178489		2203	4300	6503	SO:0001583	missense	767				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:61178489T>C	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"""Carbonic anhydrases"""	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.412A>G	8.37:g.61178489T>C	ENSP00000314407:p.Met138Val					CA8_uc003xua.1_Missense_Mutation_p.M138V|CA8_uc003xub.2_Missense_Mutation_p.M138V	p.M138V	NM_004056	NP_004047	P35219	CAH8_HUMAN			3	660	-		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)	138					A8K0A5|B3KQZ7|Q32MY2	Missense_Mutation	SNP	ENST00000317995.4	37	c.412A>G	CCDS6174.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.596210	0.86953	.	.	ENSG00000178538	ENST00000317995	T	0.53857	0.6	5.58	5.58	0.84498	Carbonic anhydrase, alpha-class, conserved site (1);Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	L	0.60957	1.885	0.80722	D	1	P	0.49862	0.929	P	0.50231	0.635	T	0.65063	-0.6259	10	0.72032	D	0.01	.	15.7706	0.78164	0.0:0.0:0.0:1.0	.	138	P35219	CAH8_HUMAN	V	138	ENSP00000314407:M138V	ENSP00000314407:M138V	M	-	1	0	CA8	61341043	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.137000	0.66172	0.455000	0.32223	ATG		0.363	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1			17	49	0	0	0	0.008871	0	17	49				
TRMT12	55039	broad.mit.edu	37	8	125464156	125464156	+	Nonsense_Mutation	SNP	G	G	T	rs375020634		TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr8:125464156G>T	ENST00000328599.3	+	1	1109	c.988G>T	c.(988-990)Gga>Tga	p.G330*	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	330					tRNA processing (GO:0008033)		transferase activity (GO:0016740)	p.G330*(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCAGGATGCTGGAGGCATTTT	0.488																																							uc003yra.3		NA																	1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(988-990)GGA>TGA		homolog of yeast tRNA methyltransferase 12							73.0	73.0	73.0					8																	125464156		2203	4300	6503	SO:0001587	stop_gained	55039				tRNA processing		methyltransferase activity	g.chr8:125464156G>T	AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 2"""	611244	"""tRNA methyltranferase 12 homolog (S. cerevisiae)"""			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.988G>T	8.37:g.125464156G>T	ENSP00000329858:p.Gly330*						p.G330*	NM_017956	NP_060426	Q53H54	TYW2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	1109	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		330					Q6PKB9|Q96F21|Q9NWK6	Nonsense_Mutation	SNP	ENST00000328599.3	37	c.988G>T	CCDS6349.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594102	0.86953	.	.	ENSG00000183665	ENST00000328599	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.6963	15.9459	0.79792	0.0:0.0:1.0:0.0	.	.	.	.	X	330	.	ENSP00000329858:G330X	G	+	1	0	TRMT12	125533337	1.000000	0.71417	0.971000	0.41717	0.348000	0.29142	6.852000	0.75430	2.712000	0.92718	0.561000	0.74099	GGA		0.488	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381465.1	NM_017956		22	178	1	0	5.26018e-13	0.012319	6.25123e-13	22	178				
TRMT12	55039	broad.mit.edu	37	8	125464490	125464490	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr8:125464490G>C	ENST00000328599.3	+	1	1443	c.1322G>C	c.(1321-1323)tGc>tCc	p.C441S	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	441					tRNA processing (GO:0008033)		transferase activity (GO:0016740)	p.C441S(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GATCTGGAATGCTGCCCCTGT	0.512																																							uc003yra.3		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1321-1323)TGC>TCC		homolog of yeast tRNA methyltransferase 12							53.0	44.0	47.0					8																	125464490		2203	4300	6503	SO:0001583	missense	55039				tRNA processing		methyltransferase activity	g.chr8:125464490G>C	AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 2"""	611244	"""tRNA methyltranferase 12 homolog (S. cerevisiae)"""			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.1322G>C	8.37:g.125464490G>C	ENSP00000329858:p.Cys441Ser						p.C441S	NM_017956	NP_060426	Q53H54	TYW2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	1443	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		441					Q6PKB9|Q96F21|Q9NWK6	Missense_Mutation	SNP	ENST00000328599.3	37	c.1322G>C	CCDS6349.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.638783	0.67130	.	.	ENSG00000183665	ENST00000328599	T	0.22743	1.94	5.16	5.16	0.70880	.	0.045614	0.85682	N	0.000000	T	0.50956	0.1646	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56347	-0.7994	10	0.72032	D	0.01	-7.3124	16.4968	0.84247	0.0:0.0:1.0:0.0	.	441	Q53H54	TYW2_HUMAN	S	441	ENSP00000329858:C441S	ENSP00000329858:C441S	C	+	2	0	TRMT12	125533671	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	8.869000	0.92326	2.559000	0.86315	0.561000	0.74099	TGC		0.512	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381465.1	NM_017956		15	114	0	0	0	0.003163	0	15	114				
OC90	729330	broad.mit.edu	37	8	133051064	133051064	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr8:133051064C>T	ENST00000443356.2	-	8	687	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	OC90_ENST00000262283.5_Missense_Mutation_p.E397K|OC90_ENST00000603859.1_Missense_Mutation_p.E201K|OC90_ENST00000254627.3_Missense_Mutation_p.E201K			Q02509	OC90_HUMAN	otoconin 90	201					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.E397K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GTCAAGTCTTCCTTGATGGTT	0.512																																							uc003ytg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(553-555)GAA>AAA		otoconin 90							87.0	91.0	90.0					8																	133051064		1912	4118	6030	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133051064C>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.601G>A	8.37:g.133051064C>T	ENSP00000390050:p.Glu201Lys					OC90_uc011lix.1_Missense_Mutation_p.E201K	p.E185K	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		6	553	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		201					B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.553G>A		.	.	.	.	.	.	.	.	.	.	C	0.142	-1.100772	0.01843	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.29397	1.59;1.58;1.57	3.56	-4.94	0.03057	.	1.533070	0.04095	N	0.311957	T	0.12433	0.0302	N	0.11560	0.145	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.33266	-0.9875	10	0.02654	T	1	-0.2242	7.0764	0.25207	0.0:0.4838:0.1423:0.3738	.	201;201	Q02509-2;Q02509	.;OC90_HUMAN	K	201;201;397	ENSP00000254627:E201K;ENSP00000390050:E201K;ENSP00000262283:E397K	ENSP00000254627:E201K	E	-	1	0	RP11-240B13.2;OC90	133120246	0.002000	0.14202	0.000000	0.03702	0.023000	0.10783	0.070000	0.14573	-0.926000	0.03770	-0.291000	0.09656	GAA		0.512	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		51	129	0	0	0	0.01441	0	51	129				
OC90	729330	broad.mit.edu	37	8	133051249	133051249	+	Silent	SNP	C	C	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr8:133051249C>T	ENST00000443356.2	-	7	665	c.579G>A	c.(577-579)caG>caA	p.Q193Q	OC90_ENST00000262283.5_Silent_p.Q389Q|OC90_ENST00000603859.1_Silent_p.Q193Q|OC90_ENST00000254627.3_Silent_p.Q193Q			Q02509	OC90_HUMAN	otoconin 90	193					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.Q199Q(1)|p.Q389Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TACCTGGAGTCTGAGCCAGGC	0.537																																							uc003ytg.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(529-531)CAG>CAA		otoconin 90							89.0	91.0	90.0					8																	133051249		2013	4175	6188	SO:0001819	synonymous_variant	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133051249C>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.579G>A	8.37:g.133051249C>T						OC90_uc011lix.1_Silent_p.Q193Q	p.Q177Q	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		5	531	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		193					B4DNG8	Silent	SNP	ENST00000443356.2	37	c.531G>A																																																																																					0.537	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		57	199	0	0	0	0.01441	0	57	199				
OC90	729330	broad.mit.edu	37	8	133051317	133051317	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr8:133051317C>T	ENST00000443356.2	-	7	597	c.511G>A	c.(511-513)Gag>Aag	p.E171K	OC90_ENST00000262283.5_Missense_Mutation_p.E367K|OC90_ENST00000603859.1_Missense_Mutation_p.E171K|OC90_ENST00000254627.3_Missense_Mutation_p.E171K			Q02509	OC90_HUMAN	otoconin 90	171	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.E367K(1)|p.E177K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GCCAAGCACTCTATGGCAGCC	0.532																																							uc003ytg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(463-465)GAG>AAG		otoconin 90							80.0	88.0	86.0					8																	133051317		2045	4209	6254	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133051317C>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.511G>A	8.37:g.133051317C>T	ENSP00000390050:p.Glu171Lys					OC90_uc011lix.1_Missense_Mutation_p.E171K	p.E155K	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		5	463	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		171			Phospholipase A2-like 1.		B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.463G>A		.	.	.	.	.	.	.	.	.	.	C	24.2	4.503143	0.85176	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.26223	1.75;1.75;1.75	4.61	4.61	0.57282	Phospholipase A2 (3);	0.241555	0.34531	N	0.003894	T	0.42743	0.1216	L	0.39692	1.235	0.46521	D	0.999089	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	T	0.29397	-1.0013	10	0.48119	T	0.1	-22.3072	16.4464	0.83935	0.0:1.0:0.0:0.0	.	171;171	Q02509-2;Q02509	.;OC90_HUMAN	K	171;171;367	ENSP00000254627:E171K;ENSP00000390050:E171K;ENSP00000262283:E367K	ENSP00000254627:E171K	E	-	1	0	RP11-240B13.2;OC90	133120499	0.988000	0.35896	0.927000	0.36925	0.920000	0.55202	2.857000	0.48349	2.125000	0.65367	0.561000	0.74099	GAG		0.532	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		48	125	0	0	0	0.01441	0	48	125				
MROH5	389690	broad.mit.edu	37	8	142487879	142487879	+	RNA	SNP	C	C	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr8:142487879C>T	ENST00000430863.1	-	0	1442					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5									p.L454L(1)									AACACACCATCAGACACTGGA	0.617																																							uc003ywi.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1360-1362)CTG>CTA		hypothetical protein LOC389690							30.0	37.0	35.0					8																	142487879		2100	4222	6322			389690						binding	g.chr8:142487879C>T			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142487879C>T						FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	p.L454L	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		11	1443	-	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		454						Silent	SNP	ENST00000430863.1	37	c.1362G>A																																																																																					0.617	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		16	32	0	0	0	0.004007	0	16	32				
ABHD17B	51104	broad.mit.edu	37	9	74481838	74481838	+	Silent	SNP	G	G	C	rs377444855		TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr9:74481838G>C	ENST00000333421.6	-	4	843	c.732C>G	c.(730-732)ctC>ctG	p.L244L	ABHD17B_ENST00000377041.2_Silent_p.L244L	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	244						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.L244L(1)									CAAACAATGCGAGGCCATGTG	0.423																																							uc004aim.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(730-732)CTC>CTG		family with sequence similarity 108, member B1							86.0	80.0	82.0					9																	74481838		2203	4300	6503	SO:0001819	synonymous_variant	51104					extracellular region	hydrolase activity	g.chr9:74481838G>C	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"""Abhydrolase domain containing"""	24278	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 77"", ""family with sequence similarity 108, member B1"""	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.732C>G	9.37:g.74481838G>C						FAM108B1_uc004ail.2_Silent_p.L244L	p.L244L	NM_001025780	NP_001020951	Q5VST6	F108B_HUMAN			4	1334	-			244					A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Silent	SNP	ENST00000333421.6	37	c.732C>G	CCDS35043.1																																																																																				0.423	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		28	64	0	0	0	0.004656	0	28	64				
NRK	203447	broad.mit.edu	37	X	105190394	105190394	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chrX:105190394G>A	ENST00000243300.9	+	26	4594	c.4291G>A	c.(4291-4293)Gat>Aat	p.D1431N	NRK_ENST00000428173.2_Missense_Mutation_p.D1432N|NRK_ENST00000540278.1_5'Flank	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1431	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.D1431N(1)|p.D1432N(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CAGCTCAGCAGATGGATATCA	0.378										HNSCC(51;0.14)																													uc004emd.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(4291-4293)GAT>AAT		Nik related kinase							114.0	101.0	105.0					X																	105190394		1868	4102	5970	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105190394G>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.4291G>A	X.37:g.105190394G>A	ENSP00000434830:p.Asp1431Asn	HNSCC(51;0.14)				NRK_uc011msi.1_5'Flank	p.D1431N	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			26	4594	+			1431			CNH.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.4291G>A		.	.	.	.	.	.	.	.	.	.	G	1.442	-0.567412	0.03910	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.04502	3.61;3.61	5.98	-0.0956	0.13640	Citron-like (2);	0.695834	0.12990	N	0.422514	T	0.01661	0.0053	N	0.01109	-1.01	0.58432	D	0.999998	B	0.09022	0.002	B	0.08055	0.003	T	0.53107	-0.8485	10	0.19147	T	0.46	.	9.9502	0.41634	0.4303:0.0:0.5697:0.0	.	1431	Q7Z2Y5	NRK_HUMAN	N	1431;1432	ENSP00000434830:D1431N;ENSP00000438378:D1432N	ENSP00000434830:D1431N	D	+	1	0	NRK	105077050	0.449000	0.25689	0.821000	0.32701	0.181000	0.23173	0.923000	0.28757	-0.531000	0.06340	-0.192000	0.12808	GAT		0.378	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		4	68	0	0	0	0.014758	0	4	68				
ARHGEF6	9459	broad.mit.edu	37	X	135827450	135827450	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chrX:135827450A>T	ENST00000250617.6	-	4	1596	c.391T>A	c.(391-393)Tct>Act	p.S131T	ARHGEF6_ENST00000370622.1_5'UTR|ARHGEF6_ENST00000370620.1_5'UTR|ARHGEF6_ENST00000535227.1_5'UTR	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	131					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S131T(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTTGTCTGAGAAGTATTAGCA	0.448																																							uc004fab.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(391-393)TCT>ACT		Rac/Cdc42 guanine nucleotide exchange factor 6							221.0	198.0	206.0					X																	135827450		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135827450A>T	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.391T>A	X.37:g.135827450A>T	ENSP00000250617:p.Ser131Thr					ARHGEF6_uc011mwd.1_5'UTR|ARHGEF6_uc011mwe.1_5'UTR	p.S131T	NM_004840	NP_004831	Q15052	ARHG6_HUMAN			4	853	-	Acute lymphoblastic leukemia(192;0.000127)		131					A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.391T>A	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	A	1.354	-0.590563	0.03799	.	.	ENSG00000129675	ENST00000250617	T	0.56611	0.45	5.15	3.94	0.45596	Calponin homology domain (1);	0.756710	0.13132	N	0.411326	T	0.38585	0.1046	L	0.31664	0.95	0.51767	D	0.999931	B	0.13145	0.007	B	0.10450	0.005	T	0.11817	-1.0572	10	0.39692	T	0.17	.	6.7783	0.23632	0.6373:0.284:0.0787:0.0	.	131	Q15052	ARHG6_HUMAN	T	131	ENSP00000250617:S131T	ENSP00000250617:S131T	S	-	1	0	ARHGEF6	135655116	0.700000	0.27796	0.813000	0.32504	0.619000	0.37552	1.177000	0.31969	0.590000	0.29694	0.430000	0.28490	TCT		0.448	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		144	110	0	0	0	0.01441	0	144	110				
SLITRK2	84631	broad.mit.edu	37	X	144904729	144904729	+	Silent	SNP	C	C	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chrX:144904729C>A	ENST00000370490.1	+	1	5041	c.786C>A	c.(784-786)ctC>ctA	p.L262L	SLITRK2_ENST00000447897.2_Silent_p.L262L|SLITRK2_ENST00000413937.2_Silent_p.L262L|SLITRK2_ENST00000428560.2_Silent_p.L262L|SLITRK2_ENST00000434188.2_Silent_p.L262L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	262	LRRCT 1.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.L262L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GGCAAGACCTCTGTCCCAGAA	0.522																																							uc004fcd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(784-786)CTC>CTA		SLIT and NTRK-like family, member 2 precursor							97.0	91.0	93.0					X																	144904729		2203	4299	6502	SO:0001819	synonymous_variant	84631					integral to membrane		g.chrX:144904729C>A	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.786C>A	X.37:g.144904729C>A						SLITRK2_uc010nsp.2_Silent_p.L262L|SLITRK2_uc010nso.2_Silent_p.L262L|SLITRK2_uc011mwq.1_Silent_p.L262L|SLITRK2_uc011mwr.1_Silent_p.L262L|SLITRK2_uc011mws.1_Silent_p.L262L|SLITRK2_uc004fcg.2_Silent_p.L262L|SLITRK2_uc011mwt.1_Silent_p.L262L	p.L262L	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	1776	+	Acute lymphoblastic leukemia(192;6.56e-05)		262			Extracellular (Potential).|LRRCT 1.		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	c.786C>A	CCDS14680.1																																																																																				0.522	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		62	44	1	0	3.30712e-30	0.01441	4.17206e-30	62	44				
WASH6P	653440	broad.mit.edu	37	X	155252782	155252782	+	RNA	SNP	A	A	G			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chrX:155252782A>G	ENST00000461007.1	+	0	1790				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.S276G(1)									CCTCATGTACAGTGCCGACCT	0.602																																							uc004fnw.1		NA																	1	Substitution - Missense(1)		lung(1)		NA						c.(826-828)AGT>GGT		WAS protein family homolog 1																																						0							g.chrX:155252782A>G	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155252782A>G						uc004fnx.3_Missense_Mutation_p.S62G	p.S276G	NM_182905	NP_878908					6	1485	+								A6NGF1|Q8N305	Missense_Mutation	SNP	ENST00000461007.1	37	c.826A>G		.	.	.	.	.	.	.	.	.	.	a	14.14	2.447010	0.43429	.	.	ENSG00000182484	ENST00000359512;ENST00000285718	.	.	.	0.379	0.379	0.16213	.	0.041368	0.85682	D	0.000000	T	0.32224	0.0822	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.13229	-1.0517	6	0.38643	T	0.18	-0.4128	4.9924	0.14220	0.9998:0.0:2.0E-4:0.0	.	.	.	.	G	276;245	.	ENSP00000285718:S245G	S	+	1	0	WASH6P	154905976	1.000000	0.71417	0.956000	0.39512	0.552000	0.35366	6.102000	0.71486	0.350000	0.24002	0.143000	0.16000	AGT		0.602	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		3	10	0	0	0	0.014758	0	3	10				
ZBTB8A	653121	broad.mit.edu	37	1	33065979	33065981	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr1:33065979_33065981delGAA	ENST00000373510.4	+	5	1514_1516	c.1285_1287delGAA	c.(1285-1287)gaadel	p.E433del	ZBTB8A_ENST00000316459.4_3'UTR|ZBTB8OS_ENST00000341885.5_Intron|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	433	Poly-Glu.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TGATGATAGTGAAGAAGAAGAAG	0.414																																							uc001bvn.2		NA																	0					0						c.(1285-1287)GAAdel		zinc finger and BTB domain containing 8A				3,6,4257		0,0,3,0,6,2124						1.9	1.0			101	0,20,8234		0,0,0,0,20,4107	no	codingComplex	ZBTB8A	NM_001040441.1		0,0,3,0,26,6231	A1A1,A1A2,A1R,A2A2,A2R,RR		0.2423,0.211,0.2316				3,26,12491				SO:0001651	inframe_deletion	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33065979_33065981delGAA	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.1285_1287delGAA	1.37:g.33065988_33065990delGAA	ENSP00000362609:p.Glu433del					ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_3'UTR|ZBTB8OS_uc001bvo.1_Intron	p.E433del	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN			5	1770_1772	+			433			Poly-Glu.		Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	In_Frame_Del	DEL	ENST00000373510.4	37	c.1285_1287delGAA	CCDS30664.1																																																																																				0.414	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	NM_144621		7	126	NA	NA	NA	NA	NA	7	126	---	---	---	---
LINGO4	339398	broad.mit.edu	37	1	151773518	151773518	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr1:151773518delC	ENST00000368820.3	-	2	2600	c.1663delG	c.(1663-1665)gccfs	p.A555fs	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	555						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCCAAAGGGCAATCAGGCCA	0.567																																							uc001ezf.1		NA																	0				large_intestine(1)	1						c.(1663-1665)GCCfs		leucine rich repeat and Ig domain containing 4							111.0	112.0	112.0					1																	151773518		2203	4300	6503	SO:0001589	frameshift_variant	339398					integral to membrane		g.chr1:151773518delC		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1663delG	1.37:g.151773518delC	ENSP00000357810:p.Ala555fs						p.A555fs	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	1853	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		555			Cytoplasmic (Potential).			Frame_Shift_Del	DEL	ENST00000368820.3	37	c.1663delG	CCDS30855.1																																																																																				0.567	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		12	518	NA	NA	NA	NA	NA	12	518	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098919	178098942	+	In_Frame_Del	DEL	TCGCTGACTGAAGTCAAATACTTC	TCGCTGACTGAAGTCAAATACTTC	-			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	TCGCTGACTGAAGTCAAATACTTC	TCGCTGACTGAAGTCAAATACTTC	-	-	TCGCTGACTGAAGTCAAATACTTC	TCGCTGACTGAAGTCAAATACTTC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr2:178098919_178098942delTCGCTGACTGAAGTCAAATACTTC	ENST00000397062.3	-	2	657_680	c.103_126delGAAGTATTTGACTTCAGTCAGCGA	c.(103-126)gaagtatttgacttcagtcagcgadel	p.EVFDFSQR35del	NFE2L2_ENST00000464747.1_In_Frame_Del_p.EVFDFSQR19del|NFE2L2_ENST00000397063.4_In_Frame_Del_p.EVFDFSQR19del|NFE2L2_ENST00000423513.1_In_Frame_Del_p.EVFDFSQR19del|NFE2L2_ENST00000446151.2_In_Frame_Del_p.EVFDFSQR19del	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	35					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V36_F37insSREV(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCTTTCCGTCGCTGACTGAAGTCAAATACTTCTCGACTTACT	0.379			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																													uc002ulh.3		NA		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		1	Insertion - In frame(1)		oesophagus(1)	central_nervous_system(1)	1						c.(103-126)GAAGTATTTGACTTCAGTCAGCGAdel		nuclear factor erythroid 2-like 2 isoform 1																																				SO:0001651	inframe_deletion	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098919_178098942delTCGCTGACTGAAGTCAAATACTTC		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.103_126delGAAGTATTTGACTTCAGTCAGCGA	2.37:g.178098919_178098942delTCGCTGACTGAAGTCAAATACTTC	ENSP00000380252:p.Glu35_Arg42del	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_In_Frame_Del_p.EVFDFSQR19del|NFE2L2_uc010zfa.1_In_Frame_Del_p.EVFDFSQR19del|NFE2L2_uc002uli.3_In_Frame_Del_p.EVFDFSQR19del|NFE2L2_uc010fra.2_In_Frame_Del_p.EVFDFSQR19del|NFE2L2_uc010frb.2_In_Frame_Del_p.EVFDFSQR19del	p.EVFDFSQR35del	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	658_681	-			35_42					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	In_Frame_Del	DEL	ENST00000397062.3	37	c.103_126delGAAGTATTTGACTTCAGTCAGCGA	CCDS42782.1																																																																																				0.379	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		7	61	NA	NA	NA	NA	NA	7	61	---	---	---	---
DHX15	1665	broad.mit.edu	37	4	24534645	24534649	+	Frame_Shift_Del	DEL	AGTTG	AGTTG	-			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	AGTTG	AGTTG	-	-	AGTTG	AGTTG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr4:24534645_24534649delAGTTG	ENST00000336812.4	-	12	2094_2098	c.1938_1942delCAACT	c.(1936-1944)gacaacttcfs	p.NF647fs	DHX15_ENST00000508032.1_5'UTR	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	647					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TAGTTAATGAAGTTGTCATAACACC	0.424																																							uc003gqx.2		NA																	0				ovary(1)	1						c.(1936-1944)GACAACTTCfs		DEAH (Asp-Glu-Ala-His) box polypeptide 15																																				SO:0001589	frameshift_variant	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24534645_24534649delAGTTG	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1938_1942delCAACT	4.37:g.24534645_24534649delAGTTG	ENSP00000336741:p.Asn647fs					DHX15_uc003gqv.2_Frame_Shift_Del_p.D52fs|DHX15_uc003gqw.2_Frame_Shift_Del_p.D69fs	p.D646fs	NM_001358	NP_001349	O43143	DHX15_HUMAN			12	2106_2110	-		Breast(46;0.0503)	646_648					Q9NQT7	Frame_Shift_Del	DEL	ENST00000336812.4	37	c.1938_1942delCAACT	CCDS33966.1																																																																																				0.424	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		33	244	NA	NA	NA	NA	NA	33	244	---	---	---	---
C9orf3	84909	broad.mit.edu	37	9	97522333	97522333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr9:97522333delT	ENST00000375315.2	+	1	268	c.268delT	c.(268-270)ttcfs	p.F90fs	C9orf3_ENST00000297979.5_Frame_Shift_Del_p.F90fs|C9orf3_ENST00000277198.2_Frame_Shift_Del_p.F90fs	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	90					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TGCAAGGACCTTCTCATCTGA	0.403																																							uc004ava.2		NA																	0				ovary(1)	1						c.(268-270)TTCfs		aminopeptidase O							105.0	108.0	107.0					9																	97522333		2203	4300	6503	SO:0001589	frameshift_variant	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97522333delT	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.268delT	9.37:g.97522333delT	ENSP00000364464:p.Phe90fs					C9orf3_uc011lui.1_RNA|C9orf3_uc004aux.1_Frame_Shift_Del_p.F90fs|C9orf3_uc004auy.2_Frame_Shift_Del_p.F90fs|C9orf3_uc004auz.1_Frame_Shift_Del_p.F90fs	p.F90fs	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	1	403	+			90					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Frame_Shift_Del	DEL	ENST00000375315.2	37	c.268delT	CCDS55328.1																																																																																				0.403	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		80	194	NA	NA	NA	NA	NA	80	194	---	---	---	---
