#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ANKRD36BP2	645784	broad.mit.edu	37	2	89086005	89086005	+	RNA	SNP	C	C	T	rs191480251	byFrequency	TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr2:89086005C>T	ENST00000393525.3	+	0	830									ankyrin repeat domain 36B pseudogene 2																		CAGAAACAATCGGCCTGGAAG	0.303													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20290	0.0		0.0	False		,,,				2504	0.0					ENST00000393525.3																			0																																																			0							g.chr2:89086005C>T			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89086005C>T														0	830	+									RNA	SNP	ENST00000393525.3	37																																																																																						0.303	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			3	6	0	0	0	1	0	3	6				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	190	0	0	0	1	0	4	190				
KIF1A	547	broad.mit.edu	37	2	241725859	241725859	+	Silent	SNP	G	G	A			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr2:241725859G>A	ENST00000320389.7	-	6	659	c.501C>T	c.(499-501)cgC>cgT	p.R167R	KIF1A_ENST00000498729.2_Silent_p.R167R	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	167	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCTCCCTCACGCGAAGGTTGC	0.602																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(499-501)cgC>cgT		kinesin family member 1A							122.0	129.0	127.0					2																	241725859		2111	4248	6359	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241725859G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.501C>T	2.37:g.241725859G>A						KIF1A_ENST00000320389.7_Silent_p.R167R	p.R167R	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	6	747	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	167			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.501C>T	CCDS46561.1																																																																																				0.602	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		62	94	0	0	0	1	0	62	94				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	188	0	0	0	1	0	4	188				
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					protein targeting to Golgi (GO:0000042)			p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373																																						ENST00000409886.3																			4	Substitution - coding silent(4)	p.A772A(4)	kidney(2)|endometrium(2)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2314-2316)gcG>gcA		RANBP2-like and GRIP domain containing 3							81.0	68.0	72.0					2																	107049631		692	1590	2282	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107049631C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2316G>A	2.37:g.107049631C>T						RGPD3_ENST00000304514.7_Silent_p.A772A	p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2403	-			772					B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.2316G>A	CCDS46379.1																																																																																				0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		5	311	0	0	0	1	0	5	311				
OR9K2	441639	broad.mit.edu	37	12	55524135	55524135	+	Missense_Mutation	SNP	G	G	A	rs77545847	byFrequency	TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr12:55524135G>A	ENST00000305377.5	+	1	671	c.583G>A	c.(583-585)Gct>Act	p.A195T		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						ATCTTTTTGCGCTTCTCGGGC	0.418													G|||	8	0.00159744	0.0	0.0	5008	,	,		19856	0.005		0.001	False		,,,				2504	0.002					ENST00000305377.5																			0				NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						c.(583-585)Gct>Act		olfactory receptor, family 9, subfamily K, member 2		G	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	148.0	137.0	141.0		583	4.1	1.0	12	dbSNP_131	141	5,8595	3.7+/-12.6	0,5,4295	yes	missense	OR9K2	NM_001005243.1	58	0,8,6495	AA,AG,GG		0.0581,0.0681,0.0615	probably-damaging	195/336	55524135	8,12998	2203	4300	6503	SO:0001583	missense	441639				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55524135G>A	BK004326	CCDS31814.1	12q13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.583G>A	12.37:g.55524135G>A	ENSP00000307598:p.Ala195Thr						p.A195T	NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN			1	671	+			195					B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	c.583G>A	CCDS31814.1	6	0.0027472527472527475	0	0.0	0	0.0	5	0.008741258741258742	1	0.0013192612137203166	G	14.86	2.662373	0.47572	6.81E-4	5.81E-4	ENSG00000170605	ENST00000305377	T	0.36699	1.24	4.98	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.253048	0.27881	N	0.017476	T	0.27063	0.0663	L	0.36672	1.1	0.27056	N	0.96367	B	0.33857	0.429	B	0.40228	0.323	T	0.27123	-1.0083	10	0.56958	D	0.05	-17.0645	13.6788	0.62472	0.0:0.0:0.8284:0.1716	.	195	Q8NGE7	OR9K2_HUMAN	T	195	ENSP00000307598:A195T	ENSP00000307598:A195T	A	+	1	0	OR9K2	53810402	0.999000	0.42202	0.997000	0.53966	0.819000	0.46315	2.814000	0.48010	1.387000	0.46486	0.650000	0.86243	GCT		0.418	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			24	70	0	0	0	1	0	24	70				
CCDC144A	9720	broad.mit.edu	37	17	16593777	16593777	+	Silent	SNP	C	C	T			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr17:16593777C>T	ENST00000360524.8	+	1	139	c.63C>T	c.(61-63)taC>taT	p.Y21Y	CCDC144A_ENST00000399273.1_Silent_p.Y21Y|CCDC144A_ENST00000340621.5_Silent_p.Y21Y|CCDC144A_ENST00000456009.1_Silent_p.Y21Y|RP11-219A15.1_ENST00000448331.3_Silent_p.Y21Y|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000443444.2_Silent_p.Y21Y|RNU6-405P_ENST00000516637.1_RNA	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	21																	CGGCAGTCTACGCCACGAGGA	0.667																																						ENST00000443444.2																			0											c.(61-63)taC>taT		coiled-coil domain containing 144A							24.0	27.0	26.0					17																	16593777		2202	4300	6502	SO:0001819	synonymous_variant	9720							g.chr17:16593777C>T	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.63C>T	17.37:g.16593777C>T						CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000340621.5_Silent_p.Y21Y|RP11-219A15.1_ENST00000448331.3_Silent_p.Y21Y|CCDC144A_ENST00000360524.8_Silent_p.Y21Y|CCDC144A_ENST00000456009.1_Silent_p.Y21Y|CCDC144A_ENST00000399273.1_Silent_p.Y21Y	p.Y21Y			A2RUR9	C144A_HUMAN			1	203	+			21					O60311|Q6ZU57	Silent	SNP	ENST00000360524.8	37	c.63C>T	CCDS45621.1																																																																																				0.667	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			18	27	0	0	0	1	0	18	27				
TRBC2	28638	broad.mit.edu	37	7	142499092	142499092	+	RNA	SNP	C	C	T	rs565853742	byFrequency	TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr7:142499092C>T	ENST00000466254.1	+	0	368							A0A5B9	TRBC2_HUMAN	T cell receptor beta constant 2							integral component of membrane (GO:0016021)											TCGTCAGCGCCGAGGCCTGGG	0.597													C|||	15	0.00299521	0.0	0.0	5008	,	,		35690	0.0		0.0	False		,,,				2504	0.0153					ENST00000466254.1																			0																				76.0	81.0	80.0					7																	142499092		2005	4166	6171			0							g.chr7:142499092C>T	M12888		7q34	2012-02-08			ENSG00000211772	ENSG00000211772		"""T cell receptors / TRB locus"""	12157	other	T cell receptor gene		615445				3860845, 8951372	Standard	NG_001333		Approved	TCRBC2		A0A5B9	OTTHUMG00000158912		7.37:g.142499092C>T														0	368	+									RNA	SNP	ENST00000466254.1	37																																																																																						0.597	TRBC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000352524.2	NG_001333		28	184	0	0	0	1	0	28	184				
ZSCAN30	100101467	broad.mit.edu	37	18	32843993	32843993	+	Silent	SNP	C	C	T			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr18:32843993C>T	ENST00000420878.3	-	3	779	c.324G>A	c.(322-324)ctG>ctA	p.L108L	ZSCAN30_ENST00000333206.5_Silent_p.L108L|ZSCAN30_ENST00000592278.1_Silent_p.L108L|ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000589178.1_Silent_p.L108L|ZSCAN30_ENST00000383091.2_Silent_p.L108L|ZSCAN30_ENST00000601405.1_Intron	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	108	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(3)|urinary_tract(1)	9						GATGCTCTCGCAGCCAAGCTT	0.547																																						ENST00000420878.3																			0				large_intestine(5)|lung(3)|urinary_tract(1)	9						c.(322-324)ctG>ctA		zinc finger and SCAN domain containing 30							60.0	57.0	58.0					18																	32843993		1568	3582	5150	SO:0001819	synonymous_variant	100101467				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32843993C>T	AY234408	CCDS42427.1, CCDS74207.1	18q12.2	2013-01-08	2010-07-23	2010-07-23	ENSG00000186814	ENSG00000186814		"""-"", ""Zinc fingers, C2H2-type"""	33517	protein-coding gene	gene with protein product			"""zinc finger protein 397 opposite strand"", ""ZNF397 opposite strand"""	ZNF397OS		12801647	Standard	NM_001166012		Approved	ZNF917	uc002kym.3	Q86W11		ENST00000420878.3:c.324G>A	18.37:g.32843993C>T						ZSCAN30_ENST00000333206.5_Silent_p.L108L|ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000601405.1_Intron|ZSCAN30_ENST00000592278.1_Silent_p.L108L|ZSCAN30_ENST00000383091.2_Silent_p.L108L|ZSCAN30_ENST00000589178.1_Silent_p.L108L	p.L108L	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN			3	779	-			108			SCAN box.		B4E0N0|Q6ZNB3|Q96PN3	Silent	SNP	ENST00000420878.3	37	c.324G>A	CCDS42427.1																																																																																				0.547	ZSCAN30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442510.1	NM_001112734		5	96	0	0	0	1	0	5	96				
AQP2	359	broad.mit.edu	37	12	50344881	50344881	+	Missense_Mutation	SNP	G	G	A			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr12:50344881G>A	ENST00000199280.3	+	1	353	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	90					actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						CGCCTTCTACGTGGCTGCCCA	0.662																																						ENST00000199280.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						c.(268-270)Gtg>Atg		aquaporin 2 (collecting duct)							24.0	24.0	24.0					12																	50344881		2203	4296	6499	SO:0001583	missense	359				cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity	g.chr12:50344881G>A		CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"""Ion channels / Aquaporins"""	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.268G>A	12.37:g.50344881G>A	ENSP00000199280:p.Val90Met						p.V90M	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN			1	353	+			90					Q9UD68	Missense_Mutation	SNP	ENST00000199280.3	37	c.268G>A	CCDS8792.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186651	0.38609	.	.	ENSG00000167580	ENST00000199280;ENST00000550862	D;D	0.85629	-2.01;-2.01	4.46	2.56	0.30785	Aquaporin-like (2);	0.276622	0.25050	N	0.033536	T	0.69477	0.3115	L	0.34521	1.04	0.35344	D	0.786731	P	0.48589	0.912	B	0.35413	0.202	T	0.69537	-0.5119	10	0.42905	T	0.14	-6.5878	3.351	0.07153	0.0951:0.1747:0.5494:0.1808	.	90	P41181	AQP2_HUMAN	M	90	ENSP00000199280:V90M;ENSP00000450022:V90M	ENSP00000199280:V90M	V	+	1	0	AQP2	48631148	0.999000	0.42202	0.958000	0.39756	0.965000	0.64279	2.734000	0.47368	0.412000	0.25729	0.655000	0.94253	GTG		0.662	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405540.1	NM_000486		13	37	0	0	0	1	0	13	37				
PTPRA	5786	broad.mit.edu	37	20	3017847	3017847	+	Missense_Mutation	SNP	T	T	A			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr20:3017847T>A	ENST00000216877.6	+	22	2619	c.2219T>A	c.(2218-2220)cTg>cAg	p.L740Q	PTPRA_ENST00000425918.2_Missense_Mutation_p.L760Q|PTPRA_ENST00000358719.4_Missense_Mutation_p.L605Q|PTPRA_ENST00000399903.2_Missense_Mutation_p.L749Q|PTPRA_ENST00000356147.3_Missense_Mutation_p.L740Q|PTPRA_ENST00000318266.5_Missense_Mutation_p.L740Q|PTPRA_ENST00000380393.3_Missense_Mutation_p.L749Q	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	749	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGCACCGTCCTGGAGCGTGTG	0.592																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(2218-2220)cTg>cAg		protein tyrosine phosphatase, receptor type, A							126.0	101.0	109.0					20																	3017847		2203	4300	6503	SO:0001583	missense	0				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:3017847T>A		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.2219T>A	20.37:g.3017847T>A	ENSP00000216877:p.Leu740Gln					PTPRA_ENST00000356147.3_Missense_Mutation_p.L740Q|PTPRA_ENST00000425918.2_Missense_Mutation_p.L760Q|PTPRA_ENST00000380393.3_Missense_Mutation_p.L749Q|PTPRA_ENST00000358719.4_Missense_Mutation_p.L605Q|PTPRA_ENST00000318266.5_Missense_Mutation_p.L740Q|PTPRA_ENST00000399903.2_Missense_Mutation_p.L749Q	p.L740Q	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			22	2619	+			749			Tyrosine-protein phosphatase 2.		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.2219T>A	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	T	32	5.177536	0.94846	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	D;D;D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12	5.91	5.91	0.95273	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	U	0.000006	D	0.94722	0.8297	M	0.90425	3.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.95580	0.8645	10	0.87932	D	0	.	16.3531	0.83224	0.0:0.0:0.0:1.0	.	760;749;740	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	Q	749;740;749;605;359;760;740;740	ENSP00000369756:L749Q;ENSP00000216877:L740Q;ENSP00000382787:L749Q;ENSP00000351559:L605Q;ENSP00000393553:L760Q;ENSP00000314568:L740Q;ENSP00000348468:L740Q	ENSP00000216877:L740Q	L	+	2	0	PTPRA	2965847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.983000	0.88140	2.255000	0.74692	0.528000	0.53228	CTG		0.592	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			38	76	0	0	0	1	0	38	76				
FAAH2	158584	broad.mit.edu	37	X	57458438	57458438	+	Missense_Mutation	SNP	G	G	A	rs138462668	byFrequency	TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chrX:57458438G>A	ENST00000374900.4	+	8	1204	c.1084G>A	c.(1084-1086)Gca>Aca	p.A362T	FAAH2_ENST00000491179.1_3'UTR	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	362						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GTTGTGGATCGCAATGATGTC	0.348										HNSCC(52;0.14)			G|||	2	0.000529801	0.0	0.0014	3775	,	,		12196	0.0		0.001	False		,,,				2504	0.0					ENST00000374900.4																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						c.(1084-1086)Gca>Aca		fatty acid amide hydrolase 2		G	THR/ALA	0,3835		0,0,0,1632,571	125.0	100.0	109.0		1084	-2.3	1.0	X	dbSNP_134	109	16,6712		0,13,3,2415,1869	yes	missense	FAAH2	NM_174912.3	58	0,13,3,4047,2440	AA,AG,A,GG,G		0.2378,0.0,0.1515	benign	362/533	57458438	16,10547	2203	4300	6503	SO:0001583	missense	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57458438G>A	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.1084G>A	X.37:g.57458438G>A	ENSP00000364035:p.Ala362Thr	HNSCC(52;0.14)				FAAH2_ENST00000491179.1_3'UTR	p.A362T	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN			8	1204	+			362					Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	c.1084G>A	CCDS14375.1	1	6.027727546714888E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	0.243	-1.012059	0.02095	0.0	0.002378	ENSG00000165591	ENST00000374900	T	0.62498	0.02	2.39	-2.27	0.06846	Amidase signature domain (2);	0.307756	0.29551	N	0.011826	T	0.35422	0.0931	N	0.16307	0.4	0.18873	N	0.999981	B	0.12630	0.006	B	0.13407	0.009	T	0.13415	-1.0510	10	0.20519	T	0.43	.	6.0334	0.19692	0.5116:0.0:0.4884:0.0	.	362	Q6GMR7	FAAH2_HUMAN	T	362	ENSP00000364035:A362T	ENSP00000364035:A362T	A	+	1	0	FAAH2	57475163	0.115000	0.22152	0.953000	0.39169	0.781000	0.44180	-0.122000	0.10627	-0.663000	0.05331	-2.553000	0.00177	GCA		0.348	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		31	4	0	0	0	1	0	31	4				
TMC7	79905	broad.mit.edu	37	16	19041626	19041626	+	Silent	SNP	G	G	A			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr16:19041626G>A	ENST00000304381.5	+	6	922	c.792G>A	c.(790-792)ctG>ctA	p.L264L	TMC7_ENST00000569532.1_Silent_p.L264L|TMC7_ENST00000421369.3_Silent_p.L154L	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	264					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CCTATGATCTGCCCCTGGCGT	0.468																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(460-462)ctG>ctA		transmembrane channel-like 7							123.0	109.0	113.0					16																	19041626		2197	4300	6497	SO:0001819	synonymous_variant	79905					integral to membrane		g.chr16:19041626G>A	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.792G>A	16.37:g.19041626G>A						TMC7_ENST00000304381.5_Silent_p.L264L|TMC7_ENST00000569532.1_Silent_p.L264L	p.L154L	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			6	1020	+			264					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	ENST00000304381.5	37	c.462G>A	CCDS10573.1																																																																																				0.468	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		36	63	0	0	0	1	0	36	63				
CHRNA10	57053	broad.mit.edu	37	11	3691150	3691150	+	Missense_Mutation	SNP	C	C	T	rs369800306		TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr11:3691150C>T	ENST00000250699.2	-	2	154	c.83G>A	c.(82-84)cGg>cAg	p.R28Q	CHRNA10_ENST00000493827.2_5'Flank|CHRNA10_ENST00000534359.1_Intron	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	28					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	GAGAGCCAGCCGGCCCTCAGC	0.612																																					Melanoma(153;17 1869 2949 7120 36888)	ENST00000250699.2																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(82-84)cGg>cAg		cholinergic receptor, nicotinic, alpha 10 (neuronal)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						117.0	95.0	103.0					11																	3691150		2201	4298	6499	SO:0001583	missense	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3691150C>T	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.83G>A	11.37:g.3691150C>T	ENSP00000250699:p.Arg28Gln					CHRNA10_ENST00000534359.1_Intron	p.R28Q	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	154	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	28						Missense_Mutation	SNP	ENST00000250699.2	37	c.83G>A	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.393658	0.83011	.	.	ENSG00000129749	ENST00000250699	T	0.76839	-1.05	5.41	3.19	0.36642	Neurotransmitter-gated ion-channel ligand-binding (1);	0.855033	0.10076	N	0.719088	T	0.64713	0.2623	L	0.31752	0.955	0.80722	D	1	B	0.33238	0.403	B	0.25614	0.062	T	0.59311	-0.7478	10	0.39692	T	0.17	.	10.4531	0.44535	0.0:0.8108:0.0:0.1892	.	28	Q9GZZ6	ACH10_HUMAN	Q	28	ENSP00000250699:R28Q	ENSP00000250699:R28Q	R	-	2	0	CHRNA10	3647726	0.010000	0.17322	1.000000	0.80357	0.983000	0.72400	0.084000	0.14891	1.284000	0.44531	0.655000	0.94253	CGG		0.612	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			31	62	0	0	0	1	0	31	62				
DNAH17	8632	broad.mit.edu	37	17	76435207	76435207	+	Missense_Mutation	SNP	C	C	T			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr17:76435207C>T	ENST00000585328.1	-	73	11879	c.11755G>A	c.(11755-11757)Gtg>Atg	p.V3919M	DNAH17_ENST00000389840.5_Missense_Mutation_p.V3910M|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3910	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTGCAGCCACGTCCAGGGCG	0.562																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(11728-11730)Gtg>Atg		dynein, axonemal, heavy chain 17							74.0	58.0	63.0					17																	76435207		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76435207C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.11755G>A	17.37:g.76435207C>T	ENSP00000465516:p.Val3919Met					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.V3919M	p.V3910M					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		73	11852	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.11728G>A		.	.	.	.	.	.	.	.	.	.	C	5.486	0.274753	0.10403	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.08634	3.07	5.35	4.38	0.52667	.	0.116944	0.38164	N	0.001800	T	0.08313	0.0207	L	0.41710	1.295	0.27769	N	0.943553	B	0.19073	0.033	B	0.19391	0.025	T	0.13845	-1.0494	10	0.44086	T	0.13	.	10.1198	0.42614	0.0:0.8447:0.0:0.1553	.	3919	E7EUM8	.	M	3919;3910	ENSP00000374490:V3910M	ENSP00000300671:V3919M	V	-	1	0	DNAH17	73946802	0.000000	0.05858	0.920000	0.36463	0.167000	0.22549	-1.047000	0.03521	1.249000	0.43950	0.650000	0.86243	GTG		0.562	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	37	0	0	0	1	0	4	37				
RPA4	29935	broad.mit.edu	37	X	96140039	96140039	+	Missense_Mutation	SNP	G	G	A			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chrX:96140039G>A	ENST00000373040.3	+	1	1133	c.730G>A	c.(730-732)Gtt>Att	p.V244I	DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000324765.8_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	244					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						TTATCTGACCGTTGAGGGCCA	0.507								Other identified genes with known or suspected DNA repair function																														ENST00000373040.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						c.(730-732)Gtt>Att	Other identified genes with known or suspected DNA repair function	replication protein A4, 30kDa							93.0	82.0	86.0					X																	96140039		2203	4300	6503	SO:0001583	missense	29935				DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	g.chrX:96140039G>A	U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"""replication protein A4, 34kDa"""			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.730G>A	X.37:g.96140039G>A	ENSP00000362131:p.Val244Ile					DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373061.3_Intron	p.V244I	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN			1	1133	+			244					Q3SY03	Missense_Mutation	SNP	ENST00000373040.3	37	c.730G>A	CCDS35345.1	.	.	.	.	.	.	.	.	.	.	G	4.929	0.172545	0.09391	.	.	ENSG00000204086	ENST00000373040	T	0.42131	0.98	3.18	-6.36	0.01969	Winged helix-turn-helix transcription repressor DNA-binding (1);Replication protein A, C-terminal (1);	.	.	.	.	T	0.21509	0.0518	N	0.22421	0.69	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.07809	-1.0753	9	0.32370	T	0.25	-5.7039	4.8427	0.13498	0.1485:0.2363:0.4972:0.1179	.	244	Q13156	RFA4_HUMAN	I	244	ENSP00000362131:V244I	ENSP00000362131:V244I	V	+	1	0	RPA4	96026695	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.678000	0.05209	-3.282000	0.00197	-2.427000	0.00216	GTT		0.507	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347		3	39	0	0	0	1	0	3	39				
TMC6	11322	broad.mit.edu	37	17	76117241	76117241	+	Missense_Mutation	SNP	G	G	A			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr17:76117241G>A	ENST00000590602.1	-	12	1547	c.1388C>T	c.(1387-1389)cCa>cTa	p.P463L	TMC6_ENST00000592076.1_Intron|TMC6_ENST00000591436.1_Missense_Mutation_p.P102L|TMC6_ENST00000589553.1_Missense_Mutation_p.P236L|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322914.3_Missense_Mutation_p.P463L|TMC6_ENST00000392467.3_Missense_Mutation_p.P463L|TMC6_ENST00000322933.4_Missense_Mutation_p.P102L			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	463					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCAGCCTCTGGACTCTGCAG	0.697																																						ENST00000590602.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14						c.(1387-1389)cCa>cTa		transmembrane channel-like 6							11.0	13.0	12.0					17																	76117241		2188	4277	6465	SO:0001583	missense	11322					endoplasmic reticulum membrane|integral to membrane		g.chr17:76117241G>A	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1388C>T	17.37:g.76117241G>A	ENSP00000465261:p.Pro463Leu					TMC6_ENST00000306591.7_Intron|TMC6_ENST00000392467.3_Missense_Mutation_p.P463L|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000589553.1_Missense_Mutation_p.P236L|TMC6_ENST00000591436.1_Missense_Mutation_p.P102L|TMC6_ENST00000322933.4_Missense_Mutation_p.P102L|TMC6_ENST00000322914.3_Missense_Mutation_p.P463L	p.P463L			Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		12	1547	-			463					O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	c.1388C>T	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	G	4.398	0.073541	0.08485	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000322933	T;T;T	0.70399	0.79;0.79;-0.48	3.61	-5.05	0.02955	.	3.618910	0.01052	U	0.004482	T	0.50922	0.1644	N	0.21142	0.635	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.23547	-1.0185	10	0.26408	T	0.33	-16.0668	3.7314	0.08495	0.0897:0.1158:0.3934:0.4011	.	236;463;463;102	Q7Z403-4;B3KTU5;Q7Z403;Q7Z403-3	.;.;TMC6_HUMAN;.	L	463;463;102	ENSP00000313408:P463L;ENSP00000376260:P463L;ENSP00000313479:P102L	ENSP00000313408:P463L	P	-	2	0	TMC6	73628836	0.005000	0.15991	0.000000	0.03702	0.035000	0.12851	0.357000	0.20199	-0.720000	0.04935	-0.448000	0.05591	CCA		0.697	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			6	15	0	0	0	1	0	6	15				
AKNA	80709	broad.mit.edu	37	9	117104291	117104291	+	Missense_Mutation	SNP	G	G	A			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr9:117104291G>A	ENST00000307564.4	-	20	4033	c.3872C>T	c.(3871-3873)tCt>tTt	p.S1291F	AKNA_ENST00000374075.5_Missense_Mutation_p.S1210F|AKNA_ENST00000374088.3_Missense_Mutation_p.S1291F|AKNA_ENST00000223791.3_Missense_Mutation_p.S751F|AKNA_ENST00000374079.4_Missense_Mutation_p.S236F|AKNA_ENST00000492875.1_5'UTR	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1291					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GTCCCTACCAGAGGTGGCTGA	0.567																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(3871-3873)tCt>tTt		AT-hook transcription factor							90.0	87.0	88.0					9																	117104291		2203	4300	6503	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117104291G>A	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3872C>T	9.37:g.117104291G>A	ENSP00000303769:p.Ser1291Phe					AKNA_ENST00000374079.4_Missense_Mutation_p.S236F|AKNA_ENST00000223791.3_Missense_Mutation_p.S751F|AKNA_ENST00000374075.5_Missense_Mutation_p.S1210F|AKNA_ENST00000374088.3_Missense_Mutation_p.S1291F|AKNA_ENST00000492875.1_5'UTR	p.S1291F	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			20	4033	-			1291					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.3872C>T	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230489	0.39399	.	.	ENSG00000106948	ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075	T;T;T;T;T	0.26660	1.99;1.72;1.99;1.74;1.98	4.83	3.93	0.45458	.	0.231194	0.31010	N	0.008426	T	0.43456	0.1248	M	0.64997	1.995	0.32632	N	0.521815	D;D	0.61697	0.984;0.99	P;D	0.63192	0.819;0.912	T	0.58387	-0.7645	10	0.66056	D	0.02	-16.07	11.7843	0.52032	0.0:0.178:0.8219:0.0	.	1291;1210	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	F	1291;236;1291;751;1210	ENSP00000303769:S1291F;ENSP00000363192:S236F;ENSP00000363201:S1291F;ENSP00000223791:S751F;ENSP00000363188:S1210F	ENSP00000223791:S751F	S	-	2	0	AKNA	116144112	0.999000	0.42202	0.981000	0.43875	0.611000	0.37282	3.145000	0.50623	1.315000	0.45114	0.563000	0.77884	TCT		0.567	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		33	71	0	0	0	1	0	33	71				
CD27	939	broad.mit.edu	37	12	6554692	6554692	+	Missense_Mutation	SNP	A	A	G			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr12:6554692A>G	ENST00000266557.3	+	2	468	c.239A>G	c.(238-240)cAc>cGc	p.H80R	CD27_ENST00000541233.1_3'UTR|CD27-AS1_ENST00000545339.1_RNA|CD27-AS1_ENST00000399492.2_RNA	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	80					cell surface receptor signaling pathway (GO:0007166)|extrinsic apoptotic signaling pathway (GO:0097191)|immunoglobulin mediated immune response (GO:0016064)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of JNK cascade (GO:0046330)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|response to ethanol (GO:0045471)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						ACCCGGCCCCACTGTGAGAGC	0.587																																						ENST00000266557.3																			0				kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						c.(238-240)cAc>cGc		CD27 molecule							54.0	47.0	49.0					12																	6554692		2203	4300	6503	SO:0001583	missense	939				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity	g.chr12:6554692A>G	M63928	CCDS8545.1	12p13	2014-09-17	2006-10-27	2006-10-27	ENSG00000139193	ENSG00000139193		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11922	protein-coding gene	gene with protein product		186711	"""tumor necrosis factor receptor superfamily, member 7"""	TNFRSF7		2442250, 8530100	Standard	NM_001242		Approved	S152, Tp55	uc001qod.3	P26842	OTTHUMG00000168316	ENST00000266557.3:c.239A>G	12.37:g.6554692A>G	ENSP00000266557:p.His80Arg					CD27_ENST00000541233.1_3'UTR|CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA	p.H80R	NM_001242.4	NP_001233.1	P26842	CD27_HUMAN			2	468	+			80					B2RDZ0	Missense_Mutation	SNP	ENST00000266557.3	37	c.239A>G	CCDS8545.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.121287	0.56613	.	.	ENSG00000139193	ENST00000266557	D	0.91068	-2.78	4.54	4.54	0.55810	TNFR/CD27/30/40/95 cysteine-rich region (3);	0.826149	0.10517	N	0.665365	D	0.88540	0.6464	L	0.32530	0.975	0.39126	D	0.961754	P	0.48589	0.912	P	0.52343	0.696	T	0.81777	-0.0777	10	0.11485	T	0.65	-18.7315	10.1894	0.43017	1.0:0.0:0.0:0.0	.	80	P26842	CD27_HUMAN	R	80	ENSP00000266557:H80R	ENSP00000266557:H80R	H	+	2	0	CD27	6424953	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	4.007000	0.57093	1.912000	0.55364	0.460000	0.39030	CAC		0.587	CD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399258.1			21	45	0	0	0	1	0	21	45				
HCN4	10021	broad.mit.edu	37	15	73622050	73622050	+	Missense_Mutation	SNP	G	G	A			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr15:73622050G>A	ENST00000261917.3	-	4	2447	c.1454C>T	c.(1453-1455)gCg>gTg	p.A485V		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	485			A -> V (in SSS2; results in a significant reduction of current density compared to wild-type). {ECO:0000269|PubMed:20662977}.		blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GCCCACGGGCGCCTGCCGCCC	0.622																																						ENST00000261917.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(1453-1455)gCg>gTg		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							77.0	73.0	74.0					15																	73622050		2198	4297	6495	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73622050G>A	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1454C>T	15.37:g.73622050G>A	ENSP00000261917:p.Ala485Val						p.A485V	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	4	2447	-			485					Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.1454C>T	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114303	0.77210	.	.	ENSG00000138622	ENST00000261917	D	0.98280	-4.84	4.31	4.31	0.51392	Ion transport (1);	.	.	.	.	D	0.98147	0.9388	L	0.60012	1.86	0.54753	D	0.999988	D	0.65815	0.995	P	0.57911	0.829	D	0.98563	1.0642	9	0.51188	T	0.08	.	16.7901	0.85586	0.0:0.0:1.0:0.0	.	485	Q9Y3Q4	HCN4_HUMAN	V	485	ENSP00000261917:A485V	ENSP00000261917:A485V	A	-	2	0	HCN4	71409103	1.000000	0.71417	0.990000	0.47175	0.693000	0.40251	9.695000	0.98691	2.105000	0.64084	0.561000	0.74099	GCG		0.622	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		39	62	0	0	0	1	0	39	62				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			0							g.chr13:25161397C>G																													13.37:g.25161397C>G														0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	45	0	0	0	1	0	4	45				
SBF1	6305	broad.mit.edu	37	22	50900484	50900484	+	Missense_Mutation	SNP	C	C	T			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr22:50900484C>T	ENST00000390679.3	-	20	2645	c.2461G>A	c.(2461-2463)Gac>Aac	p.D821N	SBF1_ENST00000348911.6_Missense_Mutation_p.D822N|SBF1_ENST00000380817.3_Missense_Mutation_p.D821N			O95248	MTMR5_HUMAN	SET binding factor 1	821					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCAGCTACGTCGCAGGTCTCT	0.617																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2461-2463)Gac>Aac		SET binding factor 1							104.0	120.0	115.0					22																	50900484		2142	4220	6362	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50900484C>T	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.2461G>A	22.37:g.50900484C>T	ENSP00000375097:p.Asp821Asn					SBF1_ENST00000390679.3_Missense_Mutation_p.D821N|SBF1_ENST00000348911.6_Missense_Mutation_p.D822N	p.D821N	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	20	2644	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	821					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.2461G>A		.	.	.	.	.	.	.	.	.	.	C	15.80	2.939981	0.52972	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.89123	-2.47;-2.41;-2.41	4.17	3.13	0.36017	.	0.000000	0.85682	D	0.000000	D	0.92315	0.7562	L	0.60455	1.87	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.987;0.998;0.996	D	0.91866	0.5503	10	0.52906	T	0.07	.	12.9727	0.58522	0.1632:0.8368:0.0:0.0	.	821;822;821	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	N	821;822;832;831;821	ENSP00000370196:D821N;ENSP00000252027:D822N;ENSP00000375097:D821N	ENSP00000336522:D831N	D	-	1	0	SBF1	49247350	1.000000	0.71417	0.062000	0.19696	0.001000	0.01503	7.419000	0.80179	0.960000	0.38005	-0.169000	0.13324	GAC		0.617	SBF1-201	KNOWN	basic	protein_coding	protein_coding				63	158	0	0	0	1	0	63	158				
SOGA3	387104	broad.mit.edu	37	6	127796912	127796912	+	Silent	SNP	G	G	A			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr6:127796912G>A	ENST00000525778.1	-	6	3004	c.2259C>T	c.(2257-2259)gcC>gcT	p.A753A	SOGA3_ENST00000556132.1_Silent_p.A753A|SOGA3_ENST00000368268.2_Silent_p.A753A|SOGA3_ENST00000465909.2_Silent_p.A753A|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Silent_p.A753A			Q5TF21	SOGA3_HUMAN	SOGA family member 3	753					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CGTCGCTCTCGGCGTCGCTGT	0.697																																						ENST00000556132.1																			0											c.(2257-2259)gcC>gcT		SOGA family member 3							42.0	49.0	46.0					6																	127796912		2125	4242	6367	SO:0001819	synonymous_variant	387104					integral to membrane		g.chr6:127796912G>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2259C>T	6.37:g.127796912G>A						SOGA3_ENST00000481848.2_Silent_p.A753A|SOGA3_ENST00000525778.1_Silent_p.A753A|SOGA3_ENST00000465909.2_Silent_p.A753A|SOGA3_ENST00000368268.2_Silent_p.A753A	p.A753A	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	3123	-			753						Silent	SNP	ENST00000525778.1	37	c.2259C>T	CCDS43505.1																																																																																				0.697	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		7	132	0	0	0	1	0	7	132				
DNAH1	25981	broad.mit.edu	37	3	52383437	52383437	+	Splice_Site	SNP	G	G	A			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr3:52383437G>A	ENST00000420323.2	+	14	2787		c.e14+1			NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1						cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTGGATAGCGTAAGTGCCCA	0.582																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.e14+1		dynein, axonemal, heavy chain 1							43.0	48.0	47.0					3																	52383437		2176	4274	6450	SO:0001630	splice_region_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52383437G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.2526+1G>A	3.37:g.52383437G>A								NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	14	2787	+								B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Splice_Site	SNP	ENST00000420323.2	37		CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617771	0.66787	.	.	ENSG00000114841	ENST00000420323	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2863	0.94072	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH1	52358477	1.000000	0.71417	0.388000	0.26195	0.094000	0.18550	8.769000	0.91742	2.569000	0.86673	0.655000	0.94253	.		0.582	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	Intron	3	35	0	0	0	1	0	3	35				
CDC20B	166979	broad.mit.edu	37	5	54410070	54410070	+	Silent	SNP	C	C	T			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr5:54410070C>T	ENST00000381375.2	-	12	1681	c.1536G>A	c.(1534-1536)acG>acA	p.T512T	CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000296733.1_Silent_p.T508T|CDC20B_ENST00000322374.6_Silent_p.T470T			Q86Y33	CD20B_HUMAN	cell division cycle 20B	512										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			atacagaggccgtcccatcag	0.527																																						ENST00000296733.1																			0				kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.(1522-1524)acG>acA		cell division cycle 20B							82.0	75.0	77.0					5																	54410070		2203	4300	6503	SO:0001819	synonymous_variant	166979							g.chr5:54410070C>T	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.1536G>A	5.37:g.54410070C>T						CDC20B_ENST00000322374.6_Silent_p.T470T|CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000381375.2_Silent_p.T512T	p.T508T	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		12	1698	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	512					B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Silent	SNP	ENST00000381375.2	37	c.1524G>A	CCDS54852.1																																																																																				0.527	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		26	57	0	0	0	1	0	26	57				
CYFIP2	26999	broad.mit.edu	37	5	156786061	156786061	+	Missense_Mutation	SNP	G	G	A			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr5:156786061G>A	ENST00000521420.1	+	23	2735	c.2644G>A	c.(2644-2646)Gtg>Atg	p.V882M	CYFIP2_ENST00000541131.1_Missense_Mutation_p.V833M|CYFIP2_ENST00000435847.2_Missense_Mutation_p.V607M|CYFIP2_ENST00000347377.6_Missense_Mutation_p.V908M|CYFIP2_ENST00000442283.2_Missense_Mutation_p.R192H|CYFIP2_ENST00000522463.1_Missense_Mutation_p.V712M|CYFIP2_ENST00000377576.3_Missense_Mutation_p.V908M|CYFIP2_ENST00000318218.6_Missense_Mutation_p.V933M					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGGAATTTCGTGGGGCCACC	0.488																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(2722-2724)Gtg>Atg		cytoplasmic FMR1 interacting protein 2							185.0	189.0	187.0					5																	156786061		2003	4169	6172	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156786061G>A	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.2644G>A	5.37:g.156786061G>A	ENSP00000430904:p.Val882Met					CYFIP2_ENST00000541131.1_Missense_Mutation_p.V833M|CYFIP2_ENST00000435847.2_Missense_Mutation_p.V607M|CYFIP2_ENST00000318218.6_Missense_Mutation_p.V933M|CYFIP2_ENST00000377576.3_Missense_Mutation_p.V908M|CYFIP2_ENST00000522463.1_Missense_Mutation_p.V712M|CYFIP2_ENST00000442283.2_Missense_Mutation_p.R192H|CYFIP2_ENST00000521420.1_Missense_Mutation_p.V882M	p.V908M	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		24	3153	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	933						Missense_Mutation	SNP	ENST00000521420.1	37	c.2722G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.605090|4.605090	0.87157|0.87157	.|.	.|.	ENSG00000055163|ENSG00000055163	ENST00000442283|ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T|T;T;T;T;T;T;T	0.21734|0.29142	1.99|1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.47078|0.47078	0.1426|0.1426	M|M	0.82323|0.82323	2.585|2.585	0.30857|0.30857	N|N	0.733939|0.733939	.|P;P;P;D;P;P	.|0.53462	.|0.705;0.821;0.707;0.96;0.949;0.943	.|B;P;B;B;B;B	.|0.46208	.|0.206;0.507;0.426;0.354;0.408;0.212	T|T	0.61023|0.61023	-0.7146|-0.7146	7|10	0.87932|0.62326	D|D	0|0.03	-29.3084|-29.3084	18.9394|18.9394	0.92600|0.92600	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|772;712;882;908;908;933	.|A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.|.;.;.;.;.;CYFP2_HUMAN	H|M	192|933;712;882;908;908;833;607	ENSP00000390948:R192H|ENSP00000325817:V933M;ENSP00000428009:V712M;ENSP00000430904:V882M;ENSP00000313567:V908M;ENSP00000366799:V908M;ENSP00000444645:V833M;ENSP00000403793:V607M	ENSP00000390948:R192H|ENSP00000325817:V933M	R|V	+|+	2|1	0|0	CYFIP2|CYFIP2	156718639|156718639	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.913000|0.913000	0.54294|0.54294	6.589000|6.589000	0.74080|0.74080	2.455000|2.455000	0.83008|0.83008	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.488	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		6	280	0	0	0	1	0	6	280				
TMEM246	84302	broad.mit.edu	37	9	104238562	104238562	+	Missense_Mutation	SNP	C	C	A			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr9:104238562C>A	ENST00000374851.1	-	4	1960	c.813G>T	c.(811-813)ttG>ttT	p.L271F	RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.L271F|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.L271F			Q9BRR3	TM246_HUMAN	transmembrane protein 246	271						integral component of membrane (GO:0016021)											AGGGCCCCAGCAACATGCCTA	0.537																																						ENST00000374851.1																			0											c.(811-813)ttG>ttT		transmembrane protein 246							100.0	101.0	101.0					9																	104238562		2203	4300	6503	SO:0001583	missense	84302					integral to membrane		g.chr9:104238562C>A	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.813G>T	9.37:g.104238562C>A	ENSP00000363984:p.Leu271Phe					TMEM246_ENST00000374848.3_Missense_Mutation_p.L271F|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.L271F	p.L271F			Q9BRR3	CI125_HUMAN			4	1960	-			271					Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	c.813G>T	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	C	9.388	1.074717	0.20227	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.69	3.62	0.41486	.	0.395446	0.25264	N	0.031921	T	0.36853	0.0982	N	0.19112	0.55	0.44852	D	0.997868	B	0.06786	0.001	B	0.04013	0.001	T	0.14476	-1.0471	9	0.19147	T	0.46	-4.8886	8.9547	0.35809	0.2866:0.597:0.1165:0.0	.	271	Q9BRR3	CI125_HUMAN	F	271	.	ENSP00000363980:L271F	L	-	3	2	C9orf125	103278383	0.977000	0.34250	1.000000	0.80357	0.998000	0.95712	0.515000	0.22801	2.696000	0.92011	0.557000	0.71058	TTG		0.537	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		70	129	1	0	4.37588e-27	1	4.74054e-27	70	129				
ABCG2	9429	broad.mit.edu	37	4	89013441	89013441	+	Missense_Mutation	SNP	A	A	G			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr4:89013441A>G	ENST00000237612.3	-	16	2458	c.1913T>C	c.(1912-1914)gTt>gCt	p.V638A	ABCG2_ENST00000515655.1_3'UTR	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	638	ABC transmembrane type-2.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	GAGGAAAATAACAATCATACA	0.363																																						ENST00000237612.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1912-1914)gTt>gCt		ATP-binding cassette, sub-family G (WHITE), member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						94.0	89.0	90.0					4																	89013441		2203	4300	6503	SO:0001583	missense	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89013441A>G	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1913T>C	4.37:g.89013441A>G	ENSP00000237612:p.Val638Ala					ABCG2_ENST00000515655.1_3'UTR	p.V638A	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	16	2458	-		Hepatocellular(203;0.114)	638			ABC transmembrane type-2.		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	c.1913T>C	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	A	14.28	2.488693	0.44249	.	.	ENSG00000118777	ENST00000237612	D	0.86769	-2.17	5.55	5.55	0.83447	.	0.453441	0.24461	N	0.038323	T	0.82111	0.4966	L	0.42632	1.34	0.09310	N	0.999999	B	0.09022	0.002	B	0.13407	0.009	T	0.73525	-0.3955	10	0.62326	D	0.03	-19.5139	9.8494	0.41048	0.9229:0.0:0.0771:0.0	.	638	Q9UNQ0	ABCG2_HUMAN	A	638	ENSP00000237612:V638A	ENSP00000237612:V638A	V	-	2	0	ABCG2	89232465	0.850000	0.29656	0.603000	0.28903	0.794000	0.44872	6.067000	0.71193	2.105000	0.64084	0.383000	0.25322	GTT		0.363	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		22	45	0	0	0	1	0	22	45				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		5	60	0	0	0	1	0	5	60				
C1QTNF9	338872	broad.mit.edu	37	13	24895797	24895797	+	Missense_Mutation	SNP	G	G	A			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr13:24895797G>A	ENST00000382071.2	+	4	978	c.893G>A	c.(892-894)gGg>gAg	p.G298E	C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.G298E|AL359736.1_ENST00000422229.2_5'Flank			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	298	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CTGAAGCTCGGGGATGAGGTG	0.507																																						ENST00000382071.2																			0				endometrium(1)|kidney(2)|lung(6)	9						c.(892-894)gGg>gAg		C1q and tumor necrosis factor related protein 9							102.0	106.0	105.0					13																	24895797		2203	4300	6503	SO:0001583	missense	338872					collagen	hormone activity	g.chr13:24895797G>A	BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.893G>A	13.37:g.24895797G>A	ENSP00000371503:p.Gly298Glu					C1QTNF9_ENST00000332018.4_Missense_Mutation_p.G298E	p.G298E			P0C862	C1T9A_HUMAN		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)	4	978	+		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	298			C1q.		A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382071.2	37	c.893G>A	CCDS9306.1	.	.	.	.	.	.	.	.	.	.	g	20.4	3.980211	0.74474	.	.	ENSG00000240654	ENST00000382071;ENST00000332018	D;D	0.82255	-1.59;-1.59	3.96	3.96	0.45880	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.100850	0.64402	D	0.000002	D	0.90154	0.6923	M	0.78285	2.405	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.90374	0.4383	10	0.44086	T	0.13	.	15.5078	0.75753	0.0:0.0:1.0:0.0	.	298	P0C862	C1T9A_HUMAN	E	298	ENSP00000371503:G298E;ENSP00000333737:G298E	ENSP00000333737:G298E	G	+	2	0	C1QTNF9	23793797	1.000000	0.71417	0.915000	0.36163	0.687000	0.40016	6.425000	0.73370	2.180000	0.69256	0.430000	0.28490	GGG		0.507	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1	NM_178540		4	121	0	0	0	1	0	4	121				
RP1L1	94137	broad.mit.edu	37	8	10464989	10464989	+	Missense_Mutation	SNP	G	G	T			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr8:10464989G>T	ENST00000382483.3	-	4	6842	c.6619C>A	c.(6619-6621)Cca>Aca	p.P2207T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2287	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCTAACTCTGGTTGGGCCTCC	0.632																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(6619-6621)Cca>Aca		retinitis pigmentosa 1-like 1							140.0	153.0	149.0					8																	10464989		1884	4104	5988	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10464989G>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6619C>A	8.37:g.10464989G>T	ENSP00000371923:p.Pro2207Thr						p.P2207T	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6842	-			2207					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6619C>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	0.840	-0.742223	0.03088	.	.	ENSG00000183638	ENST00000382483	T	0.14516	2.5	1.56	1.56	0.23342	.	.	.	.	.	T	0.09905	0.0243	L	0.27053	0.805	0.09310	N	1	D	0.56287	0.975	B	0.42522	0.39	T	0.24333	-1.0163	9	0.40728	T	0.16	.	9.0652	0.36458	0.0:0.0:1.0:0.0	.	2207	A6NKC6	.	T	2207	ENSP00000371923:P2207T	ENSP00000371923:P2207T	P	-	1	0	RP1L1	10502399	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	-1.287000	0.02785	1.193000	0.43086	0.430000	0.28490	CCA		0.632	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			26	429	1	0	0.000117367	1	0.000122062	26	429				
CRISPLD1	83690	broad.mit.edu	37	8	75929559	75929559	+	Missense_Mutation	SNP	C	C	T			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr8:75929559C>T	ENST00000262207.4	+	10	1469	c.1001C>T	c.(1000-1002)tCc>tTc	p.S334F	CRISPLD1_ENST00000523524.1_Missense_Mutation_p.S146F|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.S148F	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	334	LCCL 1. {ECO:0000255|PROSITE- ProRule:PRU00123}.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TCCAAGCAATCCAGCATCTGT	0.338																																						ENST00000262207.4																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1000-1002)tCc>tTc		cysteine-rich secretory protein LCCL domain containing 1							89.0	95.0	93.0					8																	75929559		2203	4298	6501	SO:0001583	missense	83690					extracellular region		g.chr8:75929559C>T	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.1001C>T	8.37:g.75929559C>T	ENSP00000262207:p.Ser334Phe					CRISPLD1_ENST00000523524.1_Missense_Mutation_p.S146F|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.S148F	p.S334F	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		10	1469	+	Breast(64;0.0799)		334			LCCL 1.		B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	c.1001C>T	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.074221	0.76415	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	D;D;D	0.95656	-3.77;-3.77;-3.77	5.42	5.42	0.78866	LCCL (5);	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	H	0.97564	4.03	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.99312	1.0904	10	0.87932	D	0	.	19.416	0.94700	0.0:1.0:0.0:0.0	.	148;334	B7Z929;Q9H336	.;CRLD1_HUMAN	F	334;146;148	ENSP00000262207:S334F;ENSP00000430105:S146F;ENSP00000429746:S148F	ENSP00000262207:S334F	S	+	2	0	CRISPLD1	76092114	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	5.576000	0.67437	2.821000	0.97095	0.650000	0.86243	TCC		0.338	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		5	84	0	0	0	1	0	5	84				
DPY19L4	286148	broad.mit.edu	37	8	95795914	95795914	+	Missense_Mutation	SNP	G	G	T			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr8:95795914G>T	ENST00000414645.2	+	17	1831	c.1732G>T	c.(1732-1734)Gca>Tca	p.A578S		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	578						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.A578T(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AGCTCCAGTTGCAGCTGTGTT	0.403																																						ENST00000414645.2																			1	Substitution - Missense(1)	p.A578T(1)	breast(1)	breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21						c.(1732-1734)Gca>Tca		dpy-19-like 4 (C. elegans)							133.0	114.0	121.0					8																	95795914		2203	4300	6503	SO:0001583	missense	286148					integral to membrane		g.chr8:95795914G>T		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.1732G>T	8.37:g.95795914G>T	ENSP00000389630:p.Ala578Ser						p.A578S	NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN			17	1831	+	Breast(36;3.85e-06)		578					Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	c.1732G>T	CCDS34924.1	.	.	.	.	.	.	.	.	.	.	G	7.931	0.740639	0.15642	.	.	ENSG00000156162	ENST00000414645	T	0.54675	0.56	5.08	3.28	0.37604	.	0.324151	0.32002	N	0.006722	T	0.34221	0.0890	L	0.27053	0.805	0.32883	D	0.510818	B	0.25850	0.136	B	0.26202	0.067	T	0.36915	-0.9728	10	0.12430	T	0.62	-11.1548	8.9702	0.35901	0.2279:0.0:0.7721:0.0	.	578	Q7Z388	D19L4_HUMAN	S	578	ENSP00000389630:A578S	ENSP00000389630:A578S	A	+	1	0	DPY19L4	95865090	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.731000	0.55013	0.659000	0.30945	-0.145000	0.13849	GCA		0.403	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		15	24	1	0	5.01169e-05	1	5.31853e-05	15	24				
SLC10A2	6555	broad.mit.edu	37	13	103718522	103718522	+	Missense_Mutation	SNP	G	G	T			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr13:103718522G>T	ENST00000245312.3	-	1	674	c.78C>A	c.(76-78)ttC>ttA	p.F26L		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	26					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	GGATGTTATTGAAATTGCTCT	0.478																																						ENST00000245312.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(76-78)ttC>ttA		solute carrier family 10 (sodium/bile acid cotransporter), member 2							169.0	160.0	163.0					13																	103718522		2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103718522G>T	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.78C>A	13.37:g.103718522G>T	ENSP00000245312:p.Phe26Leu						p.F26L	NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN			1	674	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		26					A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.78C>A	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	G	9.970	1.225240	0.22457	.	.	ENSG00000125255	ENST00000245312	T	0.08282	3.11	5.67	4.82	0.62117	.	0.260600	0.45361	D	0.000368	T	0.05777	0.0151	L	0.34521	1.04	0.42303	D	0.992183	B	0.27229	0.172	B	0.18871	0.023	T	0.31696	-0.9934	10	0.11182	T	0.66	-8.9415	8.8035	0.34923	0.2379:0.0:0.7621:0.0	.	26	Q12908	NTCP2_HUMAN	L	26	ENSP00000245312:F26L	ENSP00000245312:F26L	F	-	3	2	SLC10A2	102516523	1.000000	0.71417	0.315000	0.25238	0.051000	0.14879	3.776000	0.55356	1.391000	0.46566	0.655000	0.94253	TTC		0.478	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			7	133	1	0	0.000157383	1	0.000160469	7	133				
ZFYVE27	118813	broad.mit.edu	37	10	99502873	99502873	+	Missense_Mutation	SNP	T	T	G			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr10:99502873T>G	ENST00000393677.4	+	3	424	c.220T>G	c.(220-222)Ttg>Gtg	p.L74V	ZFYVE27_ENST00000356257.4_Missense_Mutation_p.L74V|ZFYVE27_ENST00000370613.3_Intron|ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.L74V|ZFYVE27_ENST00000357540.4_Intron|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.L74V|ZFYVE27_ENST00000337540.7_Intron	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	74					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		TTTGTGTTCCTTGCTGACCTG	0.547																																						ENST00000393677.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(220-222)Ttg>Gtg		zinc finger, FYVE domain containing 27							305.0	211.0	243.0					10																	99502873		2203	4300	6503	SO:0001583	missense	118813				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding	g.chr10:99502873T>G	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.220T>G	10.37:g.99502873T>G	ENSP00000377282:p.Leu74Val					ZFYVE27_ENST00000357540.4_Intron|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.L74V|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.L74V|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.L74V|ZFYVE27_ENST00000337540.7_Intron|ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000370613.3_Intron	p.L74V	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)	3	424	+		Colorectal(252;0.0846)	74					B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Missense_Mutation	SNP	ENST00000393677.4	37	c.220T>G	CCDS31263.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.747250	0.69418	.	.	ENSG00000155256	ENST00000393677;ENST00000453958;ENST00000359980;ENST00000356257;ENST00000423811	T;T;T;T;T	0.56776	0.49;0.52;0.44;0.44;0.48	5.91	3.63	0.41609	.	0.064498	0.64402	D	0.000005	T	0.54029	0.1833	L	0.32530	0.975	0.80722	D	1	D;D;D	0.69078	0.997;0.96;0.996	D;B;P	0.64042	0.921;0.445;0.836	T	0.52946	-0.8507	10	0.48119	T	0.1	-13.4508	7.425	0.27094	0.0:0.1795:0.0:0.8205	.	74;74;74	Q5T4F4-3;Q5T4F4-2;Q5T4F4	.;.;ZFY27_HUMAN	V	74;74;74;74;52	ENSP00000377282:L74V;ENSP00000401580:L74V;ENSP00000353069:L74V;ENSP00000348593:L74V;ENSP00000409594:L52V	ENSP00000348593:L74V	L	+	1	2	ZFYVE27	99492863	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	1.329000	0.33770	2.263000	0.75096	0.377000	0.23210	TTG		0.547	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		41	87	0	0	0	1	0	41	87				
NUP98	4928	broad.mit.edu	37	11	3797159	3797159	+	Missense_Mutation	SNP	G	G	T			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr11:3797159G>T	ENST00000324932.7	-	5	868	c.448C>A	c.(448-450)Cca>Aca	p.P150T	NUP98_ENST00000397004.4_Missense_Mutation_p.P150T|NUP98_ENST00000355260.3_Missense_Mutation_p.P150T|NUP98_ENST00000359171.4_Missense_Mutation_p.P150T|NUP98_ENST00000397007.4_Missense_Mutation_p.P150T	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	150	FG repeats 1.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AAACTACTTGGCCCAAAGAGG	0.398			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(448-450)Cca>Aca		nucleoporin 98kDa							127.0	135.0	132.0					11																	3797159		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3797159G>T	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.448C>A	11.37:g.3797159G>T	ENSP00000316032:p.Pro150Thr					NUP98_ENST00000397004.4_Missense_Mutation_p.P150T|NUP98_ENST00000397007.4_Missense_Mutation_p.P150T|NUP98_ENST00000359171.4_Missense_Mutation_p.P150T|NUP98_ENST00000355260.3_Missense_Mutation_p.P150T	p.P150T	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	5	868	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	150			Gly/Thr-rich.		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.448C>A	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519181	0.44866	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007;ENST00000532475	.	.	.	5.45	5.45	0.79879	.	0.279058	0.35436	N	0.003201	T	0.15652	0.0377	N	0.03324	-0.35	0.30538	N	0.766729	P;P;B;P;P	0.44044	0.577;0.458;0.248;0.825;0.702	B;B;B;B;B	0.37650	0.13;0.137;0.097;0.255;0.255	T	0.05484	-1.0882	9	0.12430	T	0.62	.	13.5835	0.61917	0.0:0.1558:0.8442:0.0	.	150;150;150;150;150	P52948;P52948-3;P52948-4;P52948-2;P52948-5	NUP98_HUMAN;.;.;.;.	T	150;150;150;150;150;113	.	ENSP00000316032:P150T	P	-	1	0	NUP98	3753735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.769000	0.38522	2.573000	0.86826	0.655000	0.94253	CCA		0.398	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		4	131	1	0	1	1	1	4	131				
ACAN	176	broad.mit.edu	37	15	89398710	89398710	+	Missense_Mutation	SNP	C	C	T			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr15:89398710C>T	ENST00000561243.1	+	11	2894	c.2894C>T	c.(2893-2895)aCc>aTc	p.T965I	ACAN_ENST00000559004.1_Missense_Mutation_p.T965I|ACAN_ENST00000439576.2_Missense_Mutation_p.T965I|ACAN_ENST00000352105.7_Missense_Mutation_p.T965I			P16112	PGCA_HUMAN	aggrecan	964	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTTCTAGAGACCTCTGCCTCT	0.562																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(2893-2895)aCc>aTc		aggrecan							114.0	119.0	117.0					15																	89398710		1845	4095	5940	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89398710C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2894C>T	15.37:g.89398710C>T	ENSP00000453342:p.Thr965Ile					ACAN_ENST00000561243.1_Missense_Mutation_p.T965I|ACAN_ENST00000559004.1_Missense_Mutation_p.T965I|ACAN_ENST00000352105.7_Missense_Mutation_p.T965I	p.T965I	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	3268	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		965					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.2894C>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	8.735	0.917630	0.17982	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.95001	-3.58;-3.58	4.47	0.341	0.15991	.	0.515296	0.14593	N	0.310144	D	0.83193	0.5201	N	0.04705	-0.18	0.09310	N	1	B;B	0.22003	0.063;0.063	B;B	0.26864	0.074;0.074	T	0.71609	-0.4541	10	0.18276	T	0.48	0.6281	4.3664	0.11227	0.0:0.463:0.1624:0.3746	.	965;965	E7ENV9;E7EX88	.;.	I	965	ENSP00000387356:T965I;ENSP00000341615:T965I	ENSP00000268134:T965I	T	+	2	0	ACAN	87199714	0.000000	0.05858	0.000000	0.03702	0.746000	0.42486	-0.162000	0.10012	-0.096000	0.12329	0.563000	0.77884	ACC		0.562	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		5	226	0	0	0	1	0	5	226				
GLI2	2736	broad.mit.edu	37	2	121746844	121746844	+	Silent	SNP	C	C	T			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr2:121746844C>T	ENST00000452319.1	+	14	3414	c.3354C>T	c.(3352-3354)ggC>ggT	p.G1118G	GLI2_ENST00000361492.4_Silent_p.G1118G|GLI2_ENST00000314490.11_Silent_p.G790G					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCAACGTGGGCCCCTCCGCCC	0.622																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3352-3354)ggC>ggT		GLI family zinc finger 2							36.0	40.0	39.0					2																	121746844		2203	4300	6503	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121746844C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3354C>T	2.37:g.121746844C>T						GLI2_ENST00000361492.4_Silent_p.G1118G|GLI2_ENST00000314490.11_Silent_p.G790G	p.G1118G			P10070	GLI2_HUMAN			14	3414	+	Renal(3;0.0496)	Prostate(154;0.0623)	1118						Silent	SNP	ENST00000452319.1	37	c.3354C>T	CCDS33283.1																																																																																				0.622	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		33	62	0	0	0	1	0	33	62				
NDUFS3	4722	broad.mit.edu	37	11	47605984	47605984	+	Missense_Mutation	SNP	C	C	T	rs9600		TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr11:47605984C>T	ENST00000263774.4	+	7	828	c.746C>T	c.(745-747)cCg>cTg	p.P249L	FAM180B_ENST00000538490.1_5'Flank|FAM180B_ENST00000356737.2_5'Flank|NDUFS3_ENST00000533507.1_3'UTR	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	249			P -> Q (in dbSNP:rs9600).		cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					Doxorubicin(DB00997)	CGCCAACCCCCGGAGAGTCTC	0.567																																					Pancreas(15;551 601 22438 23457 52512)	ENST00000263774.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9						c.(745-747)cCg>cTg		NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						120.0	125.0	123.0					11																	47605984		2201	4298	6499	SO:0001583	missense	4722				induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr11:47605984C>T	AF067139	CCDS7941.1	11p11.11	2011-08-03	2002-08-29		ENSG00000213619	ENSG00000213619	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7710	protein-coding gene	gene with protein product	"""complex I 30kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial"""	603846	"""NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase)"""			9763677	Standard	NM_004551		Approved	CI-30	uc001nga.2	O75489	OTTHUMG00000166893	ENST00000263774.4:c.746C>T	11.37:g.47605984C>T	ENSP00000263774:p.Pro249Leu					NDUFS3_ENST00000533507.1_3'UTR	p.P249L	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN			7	828	+			249		P -> Q (in dbSNP:rs9600).			B2R9J1|B4DFM8|Q9UNQ8	Missense_Mutation	SNP	ENST00000263774.4	37	c.746C>T	CCDS7941.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672268	0.47781	.	.	ENSG00000213619	ENST00000263774	T	0.78364	-1.17	5.85	5.85	0.93711	.	0.195954	0.53938	N	0.000041	T	0.66877	0.2834	N	0.21097	0.63	0.80722	D	1	P;B	0.50528	0.936;0.001	B;B	0.36766	0.232;0.001	T	0.72921	-0.4145	10	0.62326	D	0.03	3.6842	20.1775	0.98187	0.0:1.0:0.0:0.0	.	249;175	O75489;Q9UF24	NDUS3_HUMAN;.	L	249	ENSP00000263774:P249L	ENSP00000263774:P249L	P	+	2	0	NDUFS3	47562560	1.000000	0.71417	0.545000	0.28153	0.357000	0.29423	5.736000	0.68597	2.771000	0.95319	0.561000	0.74099	CCG		0.567	NDUFS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391749.1	NM_004551		61	190	0	0	0	1	0	61	190				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	58	0	0	0	1	0	4	58				
FAT4	79633	broad.mit.edu	37	4	126328050	126328050	+	Missense_Mutation	SNP	G	G	A	rs547537537		TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr4:126328050G>A	ENST00000394329.3	+	3	5336	c.5323G>A	c.(5323-5325)Gtc>Atc	p.V1775I	FAT4_ENST00000335110.5_Missense_Mutation_p.V73I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1775	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAATGCTCTCGTCACATACAC	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		18403	0.0		0.0	False		,,,				2504	0.001					ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(5323-5325)Gtc>Atc		FAT atypical cadherin 4							106.0	104.0	104.0					4																	126328050		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126328050G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5323G>A	4.37:g.126328050G>A	ENSP00000377862:p.Val1775Ile					FAT4_ENST00000335110.5_Missense_Mutation_p.V73I	p.V1775I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			3	5336	+			1775			Cadherin 17.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.5323G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383559	0.61845	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.02787	4.16;4.16	5.28	5.28	0.74379	Cadherin (4);Cadherin-like (1);	0.000000	0.31246	U	0.007984	T	0.07548	0.0190	N	0.17474	0.49	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.955;0.992	T	0.58171	-0.7683	10	0.27082	T	0.32	.	19.2767	0.94034	0.0:0.0:1.0:0.0	.	73;1775	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	I	1775;73	ENSP00000377862:V1775I;ENSP00000335169:V73I	ENSP00000335169:V73I	V	+	1	0	FAT4	126547500	1.000000	0.71417	0.959000	0.39883	0.798000	0.45092	9.611000	0.98342	2.622000	0.88805	0.585000	0.79938	GTC		0.433	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		17	127	0	0	0	1	0	17	127				
NDRG4	65009	broad.mit.edu	37	16	58545390	58545390	+	Silent	SNP	G	G	A	rs199672622		TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr16:58545390G>A	ENST00000570248.1	+	15	1075	c.969G>A	c.(967-969)tcG>tcA	p.S323S	NDRG4_ENST00000566192.1_Silent_p.S310S|NDRG4_ENST00000394282.4_Silent_p.S362S|NDRG4_ENST00000569923.1_Silent_p.S255S|NDRG4_ENST00000394279.2_Silent_p.S342S|NDRG4_ENST00000258187.5_Silent_p.S342S|NDRG4_ENST00000356752.4_Silent_p.S340S|NDRG4_ENST00000568640.1_Silent_p.S328S|NDRG4_ENST00000563799.1_Silent_p.S328S|NDRG4_ENST00000562999.1_Silent_p.S298S	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	323					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GTGCCAGCTCGGTGGATGGCA	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		15979	0.0		0.001	False		,,,				2504	0.0					ENST00000394282.4																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.(1084-1086)tcG>tcA		NDRG family member 4		G	,,,,,,	0,4396		0,0,2198	63.0	59.0	61.0		1086,1020,984,969,930,1026,1026	-9.1	0.7	16		61	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NDRG4	NM_001130487.1,NM_001242833.1,NM_001242834.1,NM_001242835.1,NM_001242836.1,NM_020465.3,NM_022910.3	,,,,,,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	362/392,340/370,328/358,323/353,310/340,342/372,342/372	58545390	1,12993	2198	4299	6497	SO:0001819	synonymous_variant	65009				cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		g.chr16:58545390G>A	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.969G>A	16.37:g.58545390G>A						NDRG4_ENST00000569923.1_Silent_p.S255S|NDRG4_ENST00000568640.1_Silent_p.S328S|NDRG4_ENST00000356752.4_Silent_p.S340S|NDRG4_ENST00000562999.1_Silent_p.S298S|NDRG4_ENST00000566192.1_Silent_p.S310S|NDRG4_ENST00000563799.1_Silent_p.S328S|NDRG4_ENST00000570248.1_Silent_p.S323S|NDRG4_ENST00000394279.2_Silent_p.S342S|NDRG4_ENST00000258187.5_Silent_p.S342S	p.S362S	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN			16	1493	+			323					B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Silent	SNP	ENST00000570248.1	37	c.1086G>A	CCDS58466.1																																																																																				0.657	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2			4	136	0	0	0	1	0	4	136				
CERKL	375298	broad.mit.edu	37	2	182468750	182468751	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr2:182468750_182468751delAT	ENST00000339098.5	-	2	293_294	c.294_295delAT	c.(292-297)atattcfs	p.F99fs	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374970.2_Frame_Shift_Del_p.F99fs|CERKL_ENST00000409440.3_Frame_Shift_Del_p.F99fs|CERKL_ENST00000374969.2_Frame_Shift_Del_p.F99fs|CERKL_ENST00000410087.3_Frame_Shift_Del_p.F99fs			Q49MI3	CERKL_HUMAN	ceramide kinase-like	99					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTCACAGAGAATATGTCTTTGA	0.307																																						ENST00000410087.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32						c.(292-297)attcfs		ceramide kinase-like																																				SO:0001589	frameshift_variant	0				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity	g.chr2:182468750_182468751delAT	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.294_295delAT	2.37:g.182468752_182468753delAT	ENSP00000341159:p.Phe99fs					CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Frame_Shift_Del_p.IF98fs|CERKL_ENST00000374969.2_Frame_Shift_Del_p.IF98fs|CERKL_ENST00000374970.2_Frame_Shift_Del_p.IF98fs|CERKL_ENST00000339098.5_Frame_Shift_Del_p.IF98fs	p.IF98fs	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	394_395	-			98					B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Frame_Shift_Del	DEL	ENST00000339098.5	37	c.294_295delAT	CCDS42789.1																																																																																				0.307	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			19	34						19	34	---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215843155	215843156	+	Frame_Shift_Ins	INS	-	-	T	rs387906285		TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr2:215843155_215843156insT	ENST00000272895.7	-	33	5231_5232	c.5012_5013insA	c.(5011-5013)aatfs	p.N1671fs	ABCA12_ENST00000389661.4_Frame_Shift_Ins_p.N1353fs	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1671					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCATAGCACTATTTTTTTGTGA	0.376																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139	GRCh37	CD051281	ABCA12	D		c.(5011-5013)aagfs		ATP-binding cassette, sub-family A (ABC1), member 12																																				SO:0001589	frameshift_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215843155_215843156insT	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5013dupA	2.37:g.215843162_215843162dupT	ENSP00000272895:p.Asn1671fs					ABCA12_ENST00000389661.4_Frame_Shift_Ins_p.K1353fs	p.K1671fs	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	33	5231_5232	-		Renal(323;0.127)	1671					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Frame_Shift_Ins	INS	ENST00000272895.7	37	c.5012_5013insA	CCDS33372.1																																																																																				0.376	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		7	23						7	23	---	---	---	---
ZNF80	7634	broad.mit.edu	37	3	113951738	113951739	+	IGR	INS	-	-	CC	rs60004852|rs398052210|rs377674793|rs71633344	byFrequency	TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr3:113951738_113951739insCC	ENST00000482457.2	-	0	2939				RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				ACTGCCCCCTGCCCCCCCCCCA	0.653																																					GBM(23;986 1114 21716)	ENST00000493033.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:113951738_113951739insCC	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332		3.37:g.113951747_113951748dupCC						RP11-553L6.2_ENST00000481773.1_RNA								0	160	+								Q6NSW4|Q6NT14	RNA	INS	ENST00000482457.2	37		CCDS2979.1																																																																																				0.653	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		4	3						4	3	---	---	---	---
SAMD3	154075	broad.mit.edu	37	6	130535491	130535491	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr6:130535491delG	ENST00000368134.2	-	6	868	c.260delC	c.(259-261)gcafs	p.A88fs	SAMD3_ENST00000439090.2_Frame_Shift_Del_p.A88fs|SAMD3_ENST00000324172.6_Frame_Shift_Del_p.A88fs|SAMD3_ENST00000532763.1_Frame_Shift_Del_p.A88fs|SAMD3_ENST00000437477.2_Frame_Shift_Del_p.A88fs|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000457563.2_Frame_Shift_Del_p.A112fs	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	88										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CTCTCGAGCTGCTTCTGTTTG	0.428																																						ENST00000532763.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29						c.(259-261)gafs		sterile alpha motif domain containing 3							119.0	122.0	121.0					6																	130535491		2203	4300	6503	SO:0001589	frameshift_variant	154075							g.chr6:130535491delG	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.260delC	6.37:g.130535491delG	ENSP00000357116:p.Ala88fs					SAMD3_ENST00000437477.2_Frame_Shift_Del_p.A88fs|SAMD3_ENST00000368134.2_Frame_Shift_Del_p.A88fs|SAMD3_ENST00000324172.6_Frame_Shift_Del_p.A88fs|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Frame_Shift_Del_p.A88fs|SAMD3_ENST00000457563.2_Frame_Shift_Del_p.A112fs	p.A88fs			Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	3	389	-			88					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Frame_Shift_Del	DEL	ENST00000368134.2	37	c.260delC	CCDS34539.1																																																																																				0.428	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		12	197						12	197	---	---	---	---
FJX1	24147	broad.mit.edu	37	11	35640220	35640220	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr11:35640220delG	ENST00000317811.4	+	1	486	c.36delG	c.(34-36)gcgfs	p.A12fs		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	12					retina layer formation (GO:0010842)	extracellular space (GO:0005615)				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				CCGCCACCGCGGGGCTCTGGC	0.801																																					Melanoma(161;10 2587 27165 47356)	ENST00000317811.4																			0				lung(1)|urinary_tract(1)	2						c.(34-36)gcfs		four jointed box 1 (Drosophila)							2.0	2.0	2.0					11																	35640220		617	1496	2113	SO:0001589	frameshift_variant	24147					extracellular space		g.chr11:35640220delG	AJ245599	CCDS44570.1	11p13	2012-05-18				ENSG00000179431			17166	protein-coding gene	gene with protein product	"""putative secreted ligand homologous to fjx1"""	612206				7647465, 10072791	Standard	NM_014344		Approved	FLJ22416, FLJ25593	uc001mwh.3	Q86VR8		ENST00000317811.4:c.36delG	11.37:g.35640220delG	ENSP00000400223:p.Ala12fs						p.A12fs	NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN			1	486	+	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)	12					B2RCA9|Q9UGK6	Frame_Shift_Del	DEL	ENST00000317811.4	37	c.36delG	CCDS44570.1																																																																																				0.801	FJX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389078.1	NM_014344		2	4						2	4	---	---	---	---
MLH3	27030	broad.mit.edu	37	14	75514337	75514338	+	Frame_Shift_Ins	INS	-	-	T	rs544782025		TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr14:75514337_75514338insT	ENST00000556740.1	-	1	2056_2057	c.2021_2022insA	c.(2020-2022)aatfs	p.N674fs	MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000238662.7_Frame_Shift_Ins_p.N674fs|MLH3_ENST00000355774.2_Frame_Shift_Ins_p.N674fs|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556257.1_Frame_Shift_Ins_p.N674fs			Q9UHC1	MLH3_HUMAN	mutL homolog 3	674					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TCGTTCTGCAATTTTTTTTGTT	0.347								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(2020-2022)atgfs	Mismatch excision repair (MMR)	mutL homolog 3			,	2,4262		0,2,2130					,	-1.6	0.1			80	0,8254		0,0,4127	no	frameshift,frameshift	MLH3	NM_014381.2,NM_001040108.1	,	0,2,6257	A1A1,A1R,RR		0.0,0.0469,0.016	,	,		2,12516				SO:0001589	frameshift_variant	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75514337_75514338insT	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.2022dupA	14.37:g.75514345_75514345dupT	ENSP00000452316:p.Asn674fs					MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Frame_Shift_Ins_p.M674fs|MLH3_ENST00000556740.1_Frame_Shift_Ins_p.M674fs|MLH3_ENST00000556257.1_Frame_Shift_Ins_p.M674fs	p.M674fs	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	2236_2237	-			674					P49751|Q56DK9|Q9P292|Q9UHC0	Frame_Shift_Ins	INS	ENST00000556740.1	37	c.2021_2022insA	CCDS32123.1																																																																																				0.347	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		26	48						26	48	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			0							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	3						3	3	---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1259227	1259227	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr16:1259227delG	ENST00000348261.5	+	17	3807	c.3559delG	c.(3559-3561)gggfs	p.G1187fs	CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.G1187fs|CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.G1187fs|RP11-616M22.3_ENST00000564700.1_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1187					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GGCCGCGCCCGGGCCCCGTGC	0.761																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(3559-3561)ggfs		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						3.0	4.0	4.0					16																	1259227		1570	3470	5040	SO:0001589	frameshift_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1259227delG	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3559delG	16.37:g.1259227delG	ENSP00000334198:p.Gly1187fs					CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.G1187fs|CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.G1187fs	p.G1187fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			17	3807	+		Hepatocellular(780;0.00369)	1187					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Frame_Shift_Del	DEL	ENST00000348261.5	37	c.3559delG	CCDS45375.1																																																																																				0.761	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		2	4						2	4	---	---	---	---
