#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
GLI2	2736	broad.mit.edu	37	2	121748118	121748118	+	Missense_Mutation	SNP	G	G	A	rs138987487	byFrequency	TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr2:121748118G>A	ENST00000452319.1	+	14	4688	c.4628G>A	c.(4627-4629)cGc>cAc	p.R1543H	GLI2_ENST00000361492.4_Missense_Mutation_p.R1543H|GLI2_ENST00000314490.11_Intron					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)				AACTCCTCCCGCCTCACCACC	0.612													G|||	3	0.000599042	0.0	0.0	5008	,	,		16808	0.001		0.002	False		,,,				2504	0.0					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.(4627-4629)cGc>cAc		GLI family zinc finger 2		G	HIS/ARG	0,4406		0,0,2203	113.0	131.0	125.0		4628	5.0	1.0	2	dbSNP_134	125	6,8594	5.0+/-18.6	0,6,4294	yes	missense	GLI2	NM_005270.4	29	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	probably-damaging	1543/1587	121748118	6,13000	2203	4300	6503	SO:0001583	missense	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.chr2:121748118G>A		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.4628G>A	2.37:g.121748118G>A	ENSP00000390436:p.Arg1543His					GLI2_ENST00000361492.4_Missense_Mutation_p.R1543H|GLI2_ENST00000314490.11_Intron	p.R1543H			P10070	GLI2_HUMAN			14	4688	+	Renal(3;0.0496)	Prostate(154;0.0623)	1543						Missense_Mutation	SNP	ENST00000452319.1	37	c.4628G>A	CCDS33283.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	29.3	4.995231	0.93167	0.0	6.98E-4	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.28895	1.59;1.59	4.98	4.98	0.66077	.	0.054412	0.64402	D	0.000001	T	0.53110	0.1776	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.66847	0.886;0.947	T	0.53315	-0.8456	10	0.54805	T	0.06	.	18.4555	0.90718	0.0:0.0:1.0:0.0	.	1543;1198	P10070;P10070-2	GLI2_HUMAN;.	H	1543	ENSP00000390436:R1543H;ENSP00000354586:R1543H	ENSP00000354586:R1543H	R	+	2	0	GLI2	121464588	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.657000	0.98554	2.581000	0.87130	0.555000	0.69702	CGC		0.612	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		15	112	0	0	0	0.146539	0	15	112				
AIM1	202	broad.mit.edu	37	6	106992724	106992724	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr6:106992724G>T	ENST00000369066.3	+	11	4491	c.4004G>T	c.(4003-4005)aGt>aTt	p.S1335I	AIM1_ENST00000535438.1_Missense_Mutation_p.S154I|AIM1_ENST00000487681.1_3'UTR	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AAAGGTTCCAGTATTGATGTA	0.333																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(4003-4005)aGt>aTt		absent in melanoma 1							121.0	123.0	122.0					6																	106992724		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106992724G>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4004G>T	6.37:g.106992724G>T	ENSP00000358062:p.Ser1335Ile					AIM1_ENST00000487681.1_3'UTR|AIM1_ENST00000535438.1_Missense_Mutation_p.S154I	p.S1335I	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	11	4491	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1335			Beta/gamma crystallin 'Greek key' 7.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.4004G>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171999	0.57584	.	.	ENSG00000112297	ENST00000369066;ENST00000457437;ENST00000535438	T;T;T	0.77620	-1.11;-1.11;-1.11	5.72	4.74	0.60224	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.479492	0.28296	N	0.015864	T	0.73442	0.3587	M	0.66297	2.02	0.30547	N	0.765859	P;B	0.37636	0.603;0.033	P;B	0.49597	0.616;0.044	T	0.72297	-0.4335	10	0.59425	D	0.04	.	7.0063	0.24838	0.2421:0.0:0.7579:0.0	.	154;1335	B4DU04;Q9Y4K1	.;AIM1_HUMAN	I	1335;154;154	ENSP00000358062:S1335I;ENSP00000391419:S154I;ENSP00000439183:S154I	ENSP00000358062:S1335I	S	+	2	0	AIM1	107099417	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.525000	0.35953	2.703000	0.92315	0.561000	0.74099	AGT		0.333	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			23	97	1	0	2.21704e-12	0.076483	2.8039e-12	23	97				
MT-CO1	4512	broad.mit.edu	37	M	6978	6978	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chrM:6978G>A	ENST00000361624.2	+	1	1075	c.1075G>A	c.(1075-1077)Gca>Aca	p.A359T	MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TC_ENST00000387405.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	359					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						GCATTGTATTAGCAAACTCAT	0.458																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(1075-1077)Gca>Aca		mitochondrially encoded cytochrome c oxidase I																																				SO:0001583	missense	4512							g.chrM:6978G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.1075G>A	M.37:g.6978G>A	ENSP00000354499:p.Ala359Thr						p.359_359insT							1	1075	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.1075G>A																																																																																					0.458	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		20	25	0	0	0	0.099896	0	20	25				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		2	5	0	0	0	0.115264	0	2	5				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	50	0	0	0	0.009096	0	3	50				
OAS3	4940	broad.mit.edu	37	12	113388602	113388602	+	Silent	SNP	C	C	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr12:113388602C>T	ENST00000228928.7	+	7	1658	c.1479C>T	c.(1477-1479)cgC>cgT	p.R493R	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	493	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GGCCCCGCCGCGCAGAGATCC	0.582																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(1477-1479)cgC>cgT		2'-5'-oligoadenylate synthetase 3, 100kDa							78.0	86.0	84.0					12																	113388602		1943	4120	6063	SO:0001819	synonymous_variant	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113388602C>T	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1479C>T	12.37:g.113388602C>T						RP1-71H24.1_ENST00000552784.1_RNA	p.R493R	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			7	1658	+			493			OAS domain 2.		Q2HJ14|Q9H3P5	Silent	SNP	ENST00000228928.7	37	c.1479C>T	CCDS44981.1																																																																																				0.582	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			23	95	0	0	0	0.083992	0	23	95				
MT-CO1	4512	broad.mit.edu	37	M	3248	3248	+	5'Flank	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chrM:3248G>A	ENST00000361624.2	+	0	0				MT-TY_ENST00000387409.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TC_ENST00000387405.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						tggcagagcccggtaatcgca	0.438																																						ENST00000386347.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:3248G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.3248G>A	Exception_encountered													0	19	+								Q34770	RNA	SNP	ENST00000361624.2	37																																																																																						0.438	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		5	57	0	0	0	0.014758	0	5	57				
NCKAP1L	3071	broad.mit.edu	37	12	54936440	54936440	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr12:54936440G>A	ENST00000293373.6	+	31	3434	c.3355G>A	c.(3355-3357)Gag>Aag	p.E1119K	RP11-1049A21.2_ENST00000547942.1_RNA|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E1069K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1119					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGCCTATCGGGAGGTGTCTCG	0.542																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(3355-3357)Gag>Aag		NCK-associated protein 1-like							170.0	144.0	153.0					12																	54936440		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54936440G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.3355G>A	12.37:g.54936440G>A	ENSP00000293373:p.Glu1119Lys					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E1069K	p.E1119K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			31	3434	+			1119					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.3355G>A	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514957	0.85389	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.32272	1.46;1.46	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	L	0.47716	1.5	0.52501	D	0.999954	D	0.69078	0.997	D	0.79108	0.992	T	0.10222	-1.0639	10	0.09338	T	0.73	-20.6294	16.6815	0.85292	0.0:0.0:1.0:0.0	.	1119	P55160	NCKPL_HUMAN	K	1119;1069	ENSP00000293373:E1119K;ENSP00000445596:E1069K	ENSP00000293373:E1119K	E	+	1	0	NCKAP1L	53222707	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.742000	0.85008	2.802000	0.96397	0.655000	0.94253	GAG		0.542	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		7	113	0	0	0	0.029380	0	7	113				
MT-ND6	4541	broad.mit.edu	37	M	14285	14285	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chrM:14285T>C	ENST00000361681.2	-	1	388	c.389A>G	c.(388-390)gAg>gGg	p.E130G	MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	130					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						ACCCTGACCCCTCTCCTTCAT	0.458																																						ENST00000361681.2																			0				breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						c.(388-390)gAg>gGg		mitochondrially encoded NADH dehydrogenase 6																																				SO:0001583	missense	4541							g.chrM:14285T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.389A>G	M.37:g.14285T>C	ENSP00000354665:p.Glu130Gly						p.E130G							1	388	-								Q34774|Q8HG30	Missense_Mutation	SNP	ENST00000361681.2	37	c.389A>G																																																																																					0.458	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024037		5	53	0	0	0	0.014758	0	5	53				
TSPAN14	81619	broad.mit.edu	37	10	82267030	82267030	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr10:82267030A>G	ENST00000429989.3	+	4	402	c.179A>G	c.(178-180)gAc>gGc	p.D60G	TSPAN14_ENST00000341863.6_Missense_Mutation_p.D60G|TSPAN14_ENST00000372158.1_Missense_Mutation_p.D60G|TSPAN14_ENST00000372156.1_Missense_Mutation_p.D60G|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372164.3_Missense_Mutation_p.D43G	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	60					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			CATGGAATCGACCCTGTGGTG	0.592																																						ENST00000429989.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(178-180)gAc>gGc		tetraspanin 14							140.0	120.0	127.0					10																	82267030		2203	4300	6503	SO:0001583	missense	81619					integral to membrane		g.chr10:82267030A>G	AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"""Tetraspanins"""	23303	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 14"""	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.179A>G	10.37:g.82267030A>G	ENSP00000396270:p.Asp60Gly					TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000341863.6_Missense_Mutation_p.D60G|TSPAN14_ENST00000372156.1_Missense_Mutation_p.D60G|TSPAN14_ENST00000372158.1_Missense_Mutation_p.D60G|TSPAN14_ENST00000372164.3_Missense_Mutation_p.D43G	p.D60G	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	Colorectal(32;0.229)		4	402	+			60					A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Missense_Mutation	SNP	ENST00000429989.3	37	c.179A>G	CCDS7369.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.599488	0.87055	.	.	ENSG00000108219	ENST00000429989;ENST00000372160;ENST00000372157;ENST00000372164;ENST00000372158;ENST00000341863;ENST00000372156	T;T;T;T;T;T	0.78816	-1.21;2.91;-1.21;-1.21;-1.21;-1.21	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.84964	0.5589	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.986;0.99	T	0.83271	-0.0043	10	0.28530	T	0.3	-34.6248	12.6842	0.56938	1.0:0.0:0.0:0.0	.	60;43	Q8NG11;Q8NG11-2	TSN14_HUMAN;.	G	60;60;30;43;60;60;60	ENSP00000396270:D60G;ENSP00000361230:D30G;ENSP00000361237:D43G;ENSP00000361231:D60G;ENSP00000344076:D60G;ENSP00000361229:D60G	ENSP00000344076:D60G	D	+	2	0	TSPAN14	82257010	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.144000	0.94629	1.939000	0.56221	0.454000	0.30748	GAC		0.592	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049081.2	NM_030927		3	40	0	0	0	0.014758	0	3	40				
BSN	8927	broad.mit.edu	37	3	49691153	49691153	+	Silent	SNP	T	T	C			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr3:49691153T>C	ENST00000296452.4	+	5	4278	c.4164T>C	c.(4162-4164)ccT>ccC	p.P1388P		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1388					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTGTGGCTCCTTGTCCAGCTG	0.622																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(4162-4164)ccT>ccC		bassoon presynaptic cytomatrix protein							53.0	57.0	55.0					3																	49691153		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49691153T>C	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.4164T>C	3.37:g.49691153T>C							p.P1388P	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	4278	+			1388					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.4164T>C	CCDS2800.1																																																																																				0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		8	51	0	0	0	0.105934	0	8	51				
HIST1H4B	8366	broad.mit.edu	37	6	26027331	26027331	+	Missense_Mutation	SNP	C	C	G	rs369387838		TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr6:26027331C>G	ENST00000377364.3	-	1	149	c.150G>C	c.(148-150)ttG>ttC	p.L50F		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	50					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CCTCATAAATCAAACCGGAAA	0.562																																						ENST00000377364.3																			0				large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(148-150)ttG>ttC		histone cluster 1, H4b							81.0	72.0	75.0					6																	26027331		2203	4300	6503	SO:0001583	missense	8366				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26027331C>G	X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"""Histones / Replication-dependent"""	4789	protein-coding gene	gene with protein product		602829	"""H4 histone family, member I"", ""histone 1, H4b"""	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.150G>C	6.37:g.26027331C>G	ENSP00000366581:p.Leu50Phe						p.L50F	NM_003544.2	NP_003535.1	P62805	H4_HUMAN			1	149	-			50					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377364.3	37	c.150G>C	CCDS4572.1	.	.	.	.	.	.	.	.	.	.	c	9.243	1.038722	0.19669	.	.	ENSG00000124529	ENST00000377364	T	0.67865	-0.29	4.65	-3.15	0.05233	.	0.000000	0.47093	U	0.000255	T	0.46229	0.1382	.	.	.	0.26830	N	0.968603	.	.	.	.	.	.	T	0.56177	-0.8022	7	0.59425	D	0.04	.	8.896	0.35465	0.1961:0.2621:0.5418:0.0	.	.	.	.	F	50	ENSP00000366581:L50F	ENSP00000366581:L50F	L	-	3	2	HIST1H4B	26135310	0.955000	0.32602	0.105000	0.21289	0.000000	0.00434	-0.020000	0.12525	-0.864000	0.04078	-1.104000	0.02111	TTG		0.562	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544		25	46	0	0	0	0.116897	0	25	46				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		6	76	0	0	0	0.021553	0	6	76				
MAGED1	9500	broad.mit.edu	37	X	51644751	51644751	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chrX:51644751G>A	ENST00000375722.1	+	12	2314	c.2062G>A	c.(2062-2064)Gct>Act	p.A688T	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Missense_Mutation_p.A744T|MAGED1_ENST00000326587.7_Missense_Mutation_p.A688T|MAGED1_ENST00000375772.3_Missense_Mutation_p.A688T			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	688					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CGAAGCCCGGGCTGAAGCAAG	0.577										Multiple Myeloma(10;0.10)																												ENST00000375695.2																			0				breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(2230-2232)Gct>Act		melanoma antigen family D, 1							64.0	57.0	59.0					X																	51644751		2203	4300	6503	SO:0001583	missense	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51644751G>A	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.2062G>A	X.37:g.51644751G>A	ENSP00000364874:p.Ala688Thr	Multiple Myeloma(10;0.10)				MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Missense_Mutation_p.A688T|MAGED1_ENST00000375772.3_Missense_Mutation_p.A688T|MAGED1_ENST00000326587.7_Missense_Mutation_p.A688T	p.A744T	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN			13	2383	+	Ovarian(276;0.236)		688					Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	c.2230G>A	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805372	0.50315	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.04654	3.61;3.61;3.61;3.58	4.09	4.09	0.47781	.	0.000000	0.43579	D	0.000543	T	0.11495	0.0280	L	0.34521	1.04	0.34623	D	0.718777	D;D	0.67145	0.996;0.993	D;D	0.77557	0.99;0.977	T	0.07908	-1.0748	10	0.62326	D	0.03	.	10.6836	0.45830	0.0:0.0:1.0:0.0	.	744;688	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	T	688;688;688;744	ENSP00000364927:A688T;ENSP00000364874:A688T;ENSP00000325333:A688T;ENSP00000364847:A744T	ENSP00000325333:A688T	A	+	1	0	MAGED1	51661491	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.578000	0.53892	2.284000	0.76573	0.513000	0.50165	GCT		0.577	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		17	5	0	0	0	0.033300	0	17	5				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	50	0	0	0	0.115264	0	3	50				
MUC17	140453	broad.mit.edu	37	7	100684160	100684160	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr7:100684160C>T	ENST00000306151.4	+	3	9527	c.9463C>T	c.(9463-9465)Cca>Tca	p.P3155S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3155	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.478																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9463-9465)Cca>Tca		mucin 17, cell surface associated							296.0	301.0	299.0					7																	100684160		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684160C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9463C>T	7.37:g.100684160C>T	ENSP00000302716:p.Pro3155Ser						p.P3155S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9527	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3155			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9463C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	2.356	-0.347730	0.05208	.	.	ENSG00000169876	ENST00000306151	T	0.06608	3.28	0.905	-1.81	0.07882	.	.	.	.	.	T	0.05227	0.0139	N	0.11560	0.145	0.09310	N	1	D	0.57571	0.98	D	0.70227	0.968	T	0.11275	-1.0594	9	0.05721	T	0.95	.	0.2536	0.00209	0.2082:0.1993:0.2083:0.3842	.	3155	Q685J3	MUC17_HUMAN	S	3155	ENSP00000302716:P3155S	ENSP00000302716:P3155S	P	+	1	0	MUC17	100470880	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-4.691000	0.00198	-1.762000	0.01308	0.121000	0.15741	CCA		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	382	0	0	0	0.021553	0	6	382				
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368|rs143389223	byFrequency	TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr15:102292785C>G	ENST00000561463.1	+	0	831									DNM1 pseudogene 47									p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602																																						ENST00000561463.1																			1	Substitution - Missense(1)	p.Q125E(1)	kidney(1)																																																0							g.chr15:102292785C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292785C>G														0	831	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	17	0	0	0	0.014758	0	4	17				
CAMKV	79012	broad.mit.edu	37	3	49898222	49898222	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr3:49898222C>A	ENST00000477224.1	-	8	1180	c.702G>T	c.(700-702)aaG>aaT	p.K234N	CAMKV_ENST00000498324.1_5'Flank|CAMKV_ENST00000463537.1_Missense_Mutation_p.K234N|CAMKV_ENST00000466940.1_Missense_Mutation_p.K191N|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000467248.1_Missense_Mutation_p.K159N|CAMKV_ENST00000488336.1_Missense_Mutation_p.K234N|CAMKV_ENST00000296471.7_Missense_Mutation_p.K206N			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	234	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGAAGAGATTCTTATCATGGT	0.502																																						ENST00000477224.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7						c.(700-702)aaG>aaT		CaM kinase-like vesicle-associated							197.0	193.0	194.0					3																	49898222		2203	4300	6503	SO:0001583	missense	79012					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr3:49898222C>A	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.702G>T	3.37:g.49898222C>A	ENSP00000419195:p.Lys234Asn					CAMKV_ENST00000488336.1_Missense_Mutation_p.K234N|CAMKV_ENST00000296471.7_Missense_Mutation_p.K206N|CAMKV_ENST00000463537.1_Missense_Mutation_p.K234N|CAMKV_ENST00000467248.1_Missense_Mutation_p.K159N|CAMKV_ENST00000466940.1_Missense_Mutation_p.K191N	p.K234N			Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	8	1180	-			234			Protein kinase.		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	ENST00000477224.1	37	c.702G>T	CCDS33762.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491901	0.44352	.	.	ENSG00000164076	ENST00000296471;ENST00000488336;ENST00000463537;ENST00000477224;ENST00000467248;ENST00000466940	T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.21	2.22	0.28083	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44483	D	0.000447	T	0.59865	0.2225	N	0.21324	0.655	0.50039	D	0.99984	D;D;D;D;D;D;D	0.76494	0.992;0.997;0.996;0.996;0.996;0.999;0.996	P;D;D;D;P;D;D	0.70935	0.872;0.971;0.935;0.935;0.893;0.936;0.935	T	0.59820	-0.7382	10	0.54805	T	0.06	.	5.51	0.16876	0.0:0.5709:0.1464:0.2827	.	191;197;234;159;206;234;234	E7ETR1;B4DMF2;B2RDF9;B4DM24;Q8NCB2-2;Q8NCB2-3;Q8NCB2	.;.;.;.;.;.;CAMKV_HUMAN	N	206;234;234;234;159;191	ENSP00000296471:K206N;ENSP00000418809:K234N;ENSP00000417614:K234N;ENSP00000419195:K234N;ENSP00000420053:K159N;ENSP00000420724:K191N	ENSP00000296471:K206N	K	-	3	2	CAMKV	49873226	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.599000	0.36751	1.322000	0.45245	0.561000	0.74099	AAG		0.502	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		21	142	1	0	1.96292e-10	0.055883	2.41159e-10	21	142				
MAML1	9794	broad.mit.edu	37	5	179200917	179200917	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr5:179200917G>A	ENST00000292599.3	+	5	2353	c.2090G>A	c.(2089-2091)gGc>gAc	p.G697D	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGTGCCCGGCATGAACACC	0.587																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(2089-2091)gGc>gAc		mastermind-like 1 (Drosophila)							129.0	131.0	130.0					5																	179200917		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179200917G>A	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2090G>A	5.37:g.179200917G>A	ENSP00000292599:p.Gly697Asp					MAML1_ENST00000503050.1_Intron	p.G697D	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	2353	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	697						Missense_Mutation	SNP	ENST00000292599.3	37	c.2090G>A	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141521	0.77775	.	.	ENSG00000161021	ENST00000292599	T	0.53206	0.63	4.67	4.67	0.58626	.	0.000000	0.64402	D	0.000002	T	0.65249	0.2673	L	0.58101	1.795	0.58432	D	0.999993	D	0.89917	1.0	D	0.71184	0.972	T	0.68281	-0.5450	10	0.56958	D	0.05	-19.2681	17.576	0.87949	0.0:0.0:1.0:0.0	.	697	Q92585	MAML1_HUMAN	D	697	ENSP00000292599:G697D	ENSP00000292599:G697D	G	+	2	0	MAML1	179133523	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.666000	0.61554	2.149000	0.67028	0.462000	0.41574	GGC		0.587	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		4	132	0	0	0	0.014758	0	4	132				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			3	36	1	0	0.004672	0.115264	0.00542962	3	36				
BBX	56987	broad.mit.edu	37	3	107429455	107429455	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr3:107429455G>A	ENST00000325805.8	+	4	435	c.148G>A	c.(148-150)Gag>Aag	p.E50K	BBX_ENST00000416476.2_Missense_Mutation_p.E50K|BBX_ENST00000415149.2_Missense_Mutation_p.E50K|BBX_ENST00000402543.1_Missense_Mutation_p.E50K|BBX_ENST00000406780.1_Missense_Mutation_p.E50K			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	50	Poly-Glu.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			agacgaagaggaggaTATTGA	0.348																																						ENST00000415149.2																			0				breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49						c.(148-150)Gag>Aag		bobby sox homolog (Drosophila)							64.0	59.0	61.0					3																	107429455		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107429455G>A	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.148G>A	3.37:g.107429455G>A	ENSP00000319974:p.Glu50Lys					BBX_ENST00000406780.1_Missense_Mutation_p.E50K|BBX_ENST00000325805.8_Missense_Mutation_p.E50K|BBX_ENST00000416476.2_Missense_Mutation_p.E50K|BBX_ENST00000402543.1_Missense_Mutation_p.E50K	p.E50K	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		4	475	+			50			Poly-Glu.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.148G>A	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444084	0.63067	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000427402;ENST00000416476;ENST00000431630;ENST00000449335;ENST00000456817;ENST00000458458;ENST00000437908;ENST00000456419;ENST00000402163;ENST00000406780;ENST00000413213;ENST00000449271;ENST00000449213;ENST00000457496;ENST00000429270	D;D;D;D;D;D;D;D;D;D;D;D;D	0.98701	-4.57;-4.59;-4.59;-4.96;-5.05;-4.94;-4.96;-5.08;-4.57;-4.36;-1.84;-4.53;-4.53	5.66	5.66	0.87406	.	0.367561	0.33834	N	0.004512	D	0.98362	0.9456	L	0.27053	0.805	0.58432	D	0.999998	B;B;D;B	0.69078	0.001;0.001;0.997;0.0	B;B;D;B	0.75020	0.004;0.003;0.985;0.001	D	0.99913	1.1210	10	0.87932	D	0	-2.6004	19.7304	0.96180	0.0:0.0:1.0:0.0	.	50;50;50;50	C9JA69;Q8WY36;A2RRM7;Q8WY36-2	.;BBX_HUMAN;.;.	K	50	ENSP00000408358:E50K;ENSP00000385317:E50K;ENSP00000319974:E50K;ENSP00000413320:E50K;ENSP00000403860:E50K;ENSP00000408297:E50K;ENSP00000413274:E50K;ENSP00000385518:E50K;ENSP00000385530:E50K;ENSP00000403806:E50K;ENSP00000406554:E50K;ENSP00000407662:E50K;ENSP00000414673:E50K	ENSP00000319974:E50K	E	+	1	0	BBX	108912145	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	6.937000	0.75898	2.836000	0.97738	0.650000	0.86243	GAG		0.348	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		6	33	0	0	0	0.021553	0	6	33				
DNM1P46	196968	broad.mit.edu	37	15	100340293	100340293	+	RNA	SNP	C	C	G			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr15:100340293C>G	ENST00000341853.1	-	0	633					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GCCGACTCCTCCACGAGTGTC	0.632																																						ENST00000341853.1																			0																				20.0	22.0	22.0					15																	100340293		1322	3209	4531			0							g.chr15:100340293C>G	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100340293C>G								NR_003260.1						0	633	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.632	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		4	12	0	0	0	0.009096	0	4	12				
MUC16	94025	broad.mit.edu	37	19	9082462	9082462	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr19:9082462G>A	ENST00000397910.4	-	1	9556	c.9353C>T	c.(9352-9354)tCt>tTt	p.S3118F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3119	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGGTCTCAGATGGTGTGAA	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(9352-9354)tCt>tTt		mucin 16, cell surface associated							280.0	293.0	289.0					19																	9082462		1977	4163	6140	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9082462G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9353C>T	19.37:g.9082462G>A	ENSP00000381008:p.Ser3118Phe						p.S3118F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	9556	-			3119			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.9353C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.919362	0.00498	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	0.541	-0.987	0.10249	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	.	.	.	B	0.21821	0.061	B	0.14578	0.011	T	0.48115	-0.9063	7	0.87932	D	0	.	.	.	.	.	3118	B5ME49	.	F	3118	ENSP00000381008:S3118F	ENSP00000381008:S3118F	S	-	2	0	MUC16	8943462	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.290000	0.18975	-2.028000	0.00931	-2.281000	0.00270	TCT		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	258	0	0	0	0.014758	0	5	258				
FAM179A	165186	broad.mit.edu	37	2	29226385	29226385	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr2:29226385T>A	ENST00000379558.4	+	6	1018	c.667T>A	c.(667-669)Tgc>Agc	p.C223S	FAM179A_ENST00000403861.2_Missense_Mutation_p.C223S	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	223										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATACCTGCACTGCAATGATGA	0.622																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(667-669)Tgc>Agc		family with sequence similarity 179, member A							34.0	40.0	38.0					2																	29226385		2091	4205	6296	SO:0001583	missense	165186						binding	g.chr2:29226385T>A	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.667T>A	2.37:g.29226385T>A	ENSP00000368876:p.Cys223Ser					FAM179A_ENST00000403861.2_Missense_Mutation_p.C223S	p.C223S	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			6	1018	+			223					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.667T>A	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	T	14.13	2.443235	0.43429	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.44482	1.69;0.92	5.01	5.01	0.66863	.	.	.	.	.	T	0.31231	0.0790	L	0.32530	0.975	0.30849	N	0.734831	B;B	0.12630	0.006;0.003	B;B	0.12156	0.007;0.005	T	0.23547	-1.0185	9	0.19147	T	0.46	.	11.1094	0.48223	0.0:0.0:0.0:1.0	.	223;223	F8W8E4;Q6ZUX3	.;F179A_HUMAN	S	223	ENSP00000368876:C223S;ENSP00000384699:C223S	ENSP00000368876:C223S	C	+	1	0	FAM179A	29079889	0.991000	0.36638	0.995000	0.50966	0.650000	0.38633	1.328000	0.33758	1.889000	0.54706	0.402000	0.26972	TGC		0.622	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		4	4	0	0	0	0.009096	0	4	4				
KRTAP10-5	386680	broad.mit.edu	37	21	45999747	45999747	+	Missense_Mutation	SNP	T	T	C	rs201346007		TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr21:45999747T>C	ENST00000400372.1	-	1	734	c.709A>G	c.(709-711)Atc>Gtc	p.I237V	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	237	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CAGGAGGAGATGGGCACGCAG	0.716																																						ENST00000400372.1																			0				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(709-711)Atc>Gtc		keratin associated protein 10-5							49.0	59.0	56.0					21																	45999747		2203	4298	6501	SO:0001583	missense	386680					keratin filament		g.chr21:45999747T>C	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.709A>G	21.37:g.45999747T>C	ENSP00000383223:p.Ile237Val					TSPEAR_ENST00000323084.4_Intron	p.I237V	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN			1	734	-			237			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	c.709A>G	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.582454	0.00008	.	.	ENSG00000241123	ENST00000400372	T	0.00648	5.99	3.23	-6.45	0.01914	.	.	.	.	.	T	0.00271	0.0008	N	0.00972	-1.085	0.09310	N	1	B	0.20550	0.046	B	0.34991	0.193	T	0.40608	-0.9554	9	0.02654	T	1	.	1.6352	0.02740	0.1936:0.1672:0.097:0.5422	.	237	P60370	KR105_HUMAN	V	237	ENSP00000383223:I237V	ENSP00000383223:I237V	I	-	1	0	KRTAP10-5	44824175	0.001000	0.12720	0.003000	0.11579	0.002000	0.02628	-1.462000	0.02364	-3.314000	0.00189	-1.802000	0.00618	ATC		0.716	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			4	41	0	0	0	0.029380	0	4	41				
HSPA8	3312	broad.mit.edu	37	11	122931873	122931873	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr11:122931873C>T	ENST00000532636.1	-	2	279	c.160G>A	c.(160-162)Gcc>Acc	p.A54T	SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000526110.1_Missense_Mutation_p.A54T|HSPA8_ENST00000534319.1_5'Flank|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.A54T|HSPA8_ENST00000533540.1_Missense_Mutation_p.A54T|HSPA8_ENST00000534624.1_Missense_Mutation_p.A54T|HSPA8_ENST00000453788.2_Missense_Mutation_p.A54T			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	54					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTCTTTGCGGCATCACCGATC	0.438																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(160-162)Gcc>Acc		heat shock 70kDa protein 8							86.0	72.0	77.0					11																	122931873		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122931873C>T	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.160G>A	11.37:g.122931873C>T	ENSP00000437125:p.Ala54Thr					HSPA8_ENST00000533540.1_Missense_Mutation_p.A54T|HSPA8_ENST00000227378.3_Missense_Mutation_p.A54T|HSPA8_ENST00000532636.1_Missense_Mutation_p.A54T|HSPA8_ENST00000526110.1_Missense_Mutation_p.A54T|HSPA8_ENST00000453788.2_Missense_Mutation_p.A54T	p.A54T	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	2	436	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	54					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.160G>A	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157373	0.78114	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000525463;ENST00000525624;ENST00000534567;ENST00000527387;ENST00000532182;ENST00000524590;ENST00000530391	T;T;T;T;T;T;T;T;T;T;T;T;T	0.04194	5.37;5.37;5.37;5.37;5.37;5.37;3.68;5.37;5.37;5.37;5.37;5.37;5.37	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.20577	0.0495	M	0.92833	3.35	0.80722	D	1	P;P;B;B;P	0.47762	0.745;0.9;0.416;0.362;0.9	P;P;B;B;P	0.49140	0.527;0.601;0.139;0.085;0.601	T	0.29336	-1.0015	10	0.87932	D	0	-16.5281	17.4081	0.87479	0.0:1.0:0.0:0.0	.	54;54;54;54;54	B4DTX2;Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;.;HSP7C_HUMAN	T	54	ENSP00000437125:A54T;ENSP00000437189:A54T;ENSP00000432083:A54T;ENSP00000404372:A54T;ENSP00000227378:A54T;ENSP00000433584:A54T;ENSP00000436762:A54T;ENSP00000435154:A54T;ENSP00000431641:A54T;ENSP00000436183:A54T;ENSP00000434415:A54T;ENSP00000434565:A54T;ENSP00000434851:A54T	ENSP00000227378:A54T	A	-	1	0	HSPA8	122437083	1.000000	0.71417	0.982000	0.44146	0.234000	0.25298	7.816000	0.86201	2.151000	0.67156	0.484000	0.47621	GCC		0.438	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			9	64	0	0	0	0.047766	0	9	64				
ABCC5	10057	broad.mit.edu	37	3	183655701	183655701	+	Missense_Mutation	SNP	C	C	A	rs377607475		TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr3:183655701C>A	ENST00000334444.6	-	26	4082	c.3842G>T	c.(3841-3843)aGt>aTt	p.S1281I	ABCC5_ENST00000265586.6_Missense_Mutation_p.S1238I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1281	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GACAGTGCCACTGAACAGCAC	0.552																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3841-3843)aGt>aTt		ATP-binding cassette, sub-family C (CFTR/MRP), member 5		C	ILE/SER	0,4248		0,0,2124	67.0	70.0	69.0		3842	5.5	1.0	3		69	1,8475		0,1,4237	no	missense	ABCC5	NM_005688.2	142	0,1,6361	AA,AC,CC		0.0118,0.0,0.0079	benign	1281/1438	183655701	1,12723	2124	4238	6362	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183655701C>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3842G>T	3.37:g.183655701C>A	ENSP00000333926:p.Ser1281Ile					ABCC5_ENST00000265586.6_Missense_Mutation_p.S1238I	p.S1281I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		26	4082	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1281			ABC transporter 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.3842G>T	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	8.087	0.773689	0.16051	0.0	1.18E-4	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.94138	-3.36;-3.36	5.49	5.49	0.81192	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.044196	0.85682	D	0.000000	D	0.95217	0.8449	M	0.89095	3.005	0.58432	D	0.999999	B;P	0.42039	0.015;0.769	B;P	0.45829	0.048;0.494	D	0.94019	0.7291	10	0.18710	T	0.47	-16.0933	19.3693	0.94479	0.0:1.0:0.0:0.0	.	1238;1281	Q86UX3;O15440	.;MRP5_HUMAN	I	1281;1238	ENSP00000333926:S1281I;ENSP00000265586:S1238I	ENSP00000265586:S1238I	S	-	2	0	ABCC5	185138395	0.980000	0.34600	0.998000	0.56505	0.975000	0.68041	2.506000	0.45433	2.583000	0.87209	0.655000	0.94253	AGT		0.552	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		9	49	1	0	0.000274275	0.047766	0.000327606	9	49				
IFT46	56912	broad.mit.edu	37	11	118422948	118422948	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr11:118422948C>T	ENST00000264021.3	-	8	1004	c.586G>A	c.(586-588)Gcg>Acg	p.A196T	IFT46_ENST00000530872.1_Missense_Mutation_p.A247T|IFT46_ENST00000264020.2_Missense_Mutation_p.A247T	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	196					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TGCACAGTCGCAGGGGGCTTA	0.443																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(739-741)Gcg>Acg		intraflagellar transport 46 homolog (Chlamydomonas)							212.0	184.0	193.0					11																	118422948		2200	4295	6495	SO:0001583	missense	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118422948C>T	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"""Intraflagellar transport homologs"""	26146	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 32"""		"""chromosome 11 open reading frame 60"", ""intraflagellar transport 46 homolog (Chlamydomonas)"""	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.586G>A	11.37:g.118422948C>T	ENSP00000264021:p.Ala196Thr					IFT46_ENST00000264021.3_Missense_Mutation_p.A196T|IFT46_ENST00000530872.1_Missense_Mutation_p.A247T	p.A247T	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			9	1116	-			196					A8K0F6|Q9H6V5	Missense_Mutation	SNP	ENST00000264021.3	37	c.739G>A	CCDS53718.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716135	0.89205	.	.	ENSG00000118096	ENST00000264021;ENST00000264020;ENST00000530872;ENST00000531939	T;T;T;T	0.53423	0.85;0.84;0.85;0.62	5.64	5.64	0.86602	.	0.052249	0.85682	D	0.000000	T	0.66963	0.2843	M	0.70275	2.135	0.80722	D	1	D;P;P	0.61697	0.99;0.476;0.48	P;B;B	0.60173	0.87;0.223;0.28	T	0.68228	-0.5464	10	0.59425	D	0.04	0.0092	19.683	0.95971	0.0:1.0:0.0:0.0	.	247;196;247	E9PR06;Q9NQC8;Q9NQC8-2	.;IFT46_HUMAN;.	T	196;247;247;196	ENSP00000264021:A196T;ENSP00000264020:A247T;ENSP00000432384:A247T;ENSP00000435826:A196T	ENSP00000264020:A247T	A	-	1	0	IFT46	117928158	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.654000	0.74387	2.653000	0.90120	0.561000	0.74099	GCG		0.443	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		5	154	0	0	0	0.014758	0	5	154				
SIK1	150094	broad.mit.edu	37	21	44836663	44836663	+	Silent	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr21:44836663G>A	ENST00000270162.6	-	14	2443	c.2311C>T	c.(2311-2313)Ctg>Ttg	p.L771L		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	771					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CAGGGCATCAGGTCCTCCATC	0.657																																						ENST00000270162.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						c.(2311-2313)Ctg>Ttg		salt-inducible kinase 1							33.0	34.0	34.0					21																	44836663		2201	4299	6500	SO:0001819	synonymous_variant	150094				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr21:44836663G>A	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.2311C>T	21.37:g.44836663G>A							p.L771L	NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN			14	2443	-			771					A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Silent	SNP	ENST00000270162.6	37	c.2311C>T	CCDS33575.1																																																																																				0.657	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		9	26	0	0	0	0.058154	0	9	26				
UGT1A1	54658	broad.mit.edu	37	2	234669699	234669699	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr2:234669699T>C	ENST00000608383.1	+	1	766	c.766T>C	c.(766-768)Ttt>Ctt	p.F256L	UGT1A8_ENST00000305208.5_Missense_Mutation_p.F256L|UGT1A1_ENST00000608381.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000360418.3_Missense_Mutation_p.F256L|UGT1A1_ENST00000609767.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	256					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TGTCTGGCTGTTTAGAAGTGA	0.483																																						ENST00000360418.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(766-768)Ttt>Ctt			Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						180.0	177.0	178.0					2																	234669699		2203	4300	6503	SO:0001583	missense	0				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234669699T>C	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.766T>C	2.37:g.234669699T>C	ENSP00000476741:p.Phe256Leu					UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.F256L|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron	p.F256L			P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	1	766	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	256					A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000608383.1	37	c.766T>C	CCDS2510.1	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.453833	0.01071	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.51817	0.69;0.69	5.55	-11.1	0.00147	.	.	.	.	.	T	0.10078	0.0247	N	0.00514	-1.41	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.20384	0.029;0.002	T	0.19031	-1.0318	9	0.15952	T	0.53	.	2.1448	0.03784	0.3579:0.2102:0.0693:0.3626	.	256;256	A6NJC3;P22309	.;UD11_HUMAN	L	256	ENSP00000304845:F256L;ENSP00000353593:F256L	ENSP00000304845:F256L	F	+	1	0	UGT1A1	234334438	0.000000	0.05858	0.000000	0.03702	0.232000	0.25224	-3.863000	0.00347	-3.237000	0.00208	-1.139000	0.01908	TTT		0.483	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding				5	184	0	0	0	0.014758	0	5	184				
DST	667	broad.mit.edu	37	6	56707935	56707935	+	Silent	SNP	A	A	C			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr6:56707935A>C	ENST00000361203.3	-	1	16	c.9T>G	c.(7-9)ggT>ggG	p.G3G	DST_ENST00000312431.6_Silent_p.G3G|DST_ENST00000370769.4_Silent_p.G3G|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Silent_p.G3G|DST_ENST00000421834.2_Silent_p.G3G|RP11-472M19.2_ENST00000426453.1_RNA			Q03001	DYST_HUMAN	dystonin	3					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGGAGAGGTAACCCGCCATGC	0.562																																						ENST00000370769.4																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(7-9)ggT>ggG		dystonin							51.0	64.0	60.0					6																	56707935		2023	4180	6203	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56707935A>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.9T>G	6.37:g.56707935A>C						DST_ENST00000361203.3_Silent_p.G3G|DST_ENST00000421834.2_Silent_p.G3G|DST_ENST00000312431.6_Silent_p.G3G|DST_ENST00000370788.2_Silent_p.G3G|DST_ENST00000370754.5_Intron	p.G3G			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		1	8	-	Lung NSC(77;0.103)		3					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.9T>G																																																																																					0.562	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		5	10	0	0	0	0.033300	0	5	10				
PCLO	27445	broad.mit.edu	37	7	82545550	82545550	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr7:82545550G>A	ENST00000333891.9	-	7	12089	c.11752C>T	c.(11752-11754)Caa>Taa	p.Q3918*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.Q3918*|PCLO_ENST00000437081.1_Nonsense_Mutation_p.Q638*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTGAAACTTGCTGATGGTAC	0.458																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(11752-11754)Caa>Taa		piccolo presynaptic cytomatrix protein							404.0	401.0	402.0					7																	82545550		2028	4176	6204	SO:0001587	stop_gained	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545550G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11752C>T	7.37:g.82545550G>A	ENSP00000334319:p.Gln3918*					PCLO_ENST00000437081.1_Nonsense_Mutation_p.Q638*|PCLO_ENST00000333891.8_Nonsense_Mutation_p.Q3918*	p.Q3918*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	12089	-			3849						Nonsense_Mutation	SNP	ENST00000333891.9	37	c.11752C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117547	0.94385	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	.	.	.	5.51	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.0367	0.80635	0.0:0.1432:0.8568:0.0	.	.	.	.	X	3918;3918;638	.	ENSP00000334319:Q3918X	Q	-	1	0	PCLO	82383486	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.517000	0.73759	1.342000	0.45619	0.563000	0.77884	CAA		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		7	433	0	0	0	0.029380	0	7	433				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		34	55	0	0	0	0.069456	0	34	55				
LILRP2	79166	broad.mit.edu	37	19	55221935	55221935	+	RNA	SNP	G	G	A	rs45588833	byFrequency	TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr19:55221935G>A	ENST00000413439.1	+	0	1462									leukocyte immunoglobulin-like receptor pseudogene 2																		CGGGCCCCACGGTGGCCTCAG	0.637													.|||	386	0.0770767	0.2035	0.0562	5008	,	,		17423	0.0079		0.0586	False		,,,				2504	0.0112				Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55221935G>A	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221935G>A														0	1462	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.637	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		4	41	0	0	0	0.021553	0	4	41				
GLI2	2736	broad.mit.edu	37	2	121748118	121748118	+	Missense_Mutation	SNP	G	G	A	rs138987487	byFrequency	TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr2:121748118G>A	ENST00000452319.1	+	14	4688	c.4628G>A	c.(4627-4629)cGc>cAc	p.R1543H	GLI2_ENST00000361492.4_Missense_Mutation_p.R1543H|GLI2_ENST00000314490.11_Intron					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)				AACTCCTCCCGCCTCACCACC	0.612													G|||	3	0.000599042	0.0	0.0	5008	,	,		16808	0.001		0.002	False		,,,				2504	0.0					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.(4627-4629)cGc>cAc		GLI family zinc finger 2		G	HIS/ARG	0,4406		0,0,2203	113.0	131.0	125.0		4628	5.0	1.0	2	dbSNP_134	125	6,8594	5.0+/-18.6	0,6,4294	yes	missense	GLI2	NM_005270.4	29	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	probably-damaging	1543/1587	121748118	6,13000	2203	4300	6503	SO:0001583	missense	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.chr2:121748118G>A		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.4628G>A	2.37:g.121748118G>A	ENSP00000390436:p.Arg1543His					GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.R1543H	p.R1543H			P10070	GLI2_HUMAN			14	4688	+	Renal(3;0.0496)	Prostate(154;0.0623)	1543						Missense_Mutation	SNP	ENST00000452319.1	37	c.4628G>A	CCDS33283.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	29.3	4.995231	0.93167	0.0	6.98E-4	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.28895	1.59;1.59	4.98	4.98	0.66077	.	0.054412	0.64402	D	0.000001	T	0.53110	0.1776	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.66847	0.886;0.947	T	0.53315	-0.8456	10	0.54805	T	0.06	.	18.4555	0.90718	0.0:0.0:1.0:0.0	.	1543;1198	P10070;P10070-2	GLI2_HUMAN;.	H	1543	ENSP00000390436:R1543H;ENSP00000354586:R1543H	ENSP00000354586:R1543H	R	+	2	0	GLI2	121464588	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.657000	0.98554	2.581000	0.87130	0.555000	0.69702	CGC		0.612	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		15	112	0	0	0	0.146539	0	15	112				
AIM1	202	broad.mit.edu	37	6	106992724	106992724	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr6:106992724G>T	ENST00000369066.3	+	11	4491	c.4004G>T	c.(4003-4005)aGt>aTt	p.S1335I	AIM1_ENST00000535438.1_Missense_Mutation_p.S154I|AIM1_ENST00000487681.1_3'UTR	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AAAGGTTCCAGTATTGATGTA	0.333																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(4003-4005)aGt>aTt		absent in melanoma 1							121.0	123.0	122.0					6																	106992724		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106992724G>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4004G>T	6.37:g.106992724G>T	ENSP00000358062:p.Ser1335Ile					AIM1_ENST00000535438.1_Missense_Mutation_p.S154I|AIM1_ENST00000487681.1_3'UTR	p.S1335I	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	11	4491	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1335			Beta/gamma crystallin 'Greek key' 7.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.4004G>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171999	0.57584	.	.	ENSG00000112297	ENST00000369066;ENST00000457437;ENST00000535438	T;T;T	0.77620	-1.11;-1.11;-1.11	5.72	4.74	0.60224	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.479492	0.28296	N	0.015864	T	0.73442	0.3587	M	0.66297	2.02	0.30547	N	0.765859	P;B	0.37636	0.603;0.033	P;B	0.49597	0.616;0.044	T	0.72297	-0.4335	10	0.59425	D	0.04	.	7.0063	0.24838	0.2421:0.0:0.7579:0.0	.	154;1335	B4DU04;Q9Y4K1	.;AIM1_HUMAN	I	1335;154;154	ENSP00000358062:S1335I;ENSP00000391419:S154I;ENSP00000439183:S154I	ENSP00000358062:S1335I	S	+	2	0	AIM1	107099417	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.525000	0.35953	2.703000	0.92315	0.561000	0.74099	AGT		0.333	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			23	97	1	0	2.21704e-12	0.076483	2.85047e-12	23	97				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	50	0	0	0	0.009096	0	3	50				
NCKAP1L	3071	broad.mit.edu	37	12	54936440	54936440	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr12:54936440G>A	ENST00000293373.6	+	31	3434	c.3355G>A	c.(3355-3357)Gag>Aag	p.E1119K	RP11-1049A21.2_ENST00000547942.1_RNA|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E1069K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1119					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGCCTATCGGGAGGTGTCTCG	0.542																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(3355-3357)Gag>Aag		NCK-associated protein 1-like							170.0	144.0	153.0					12																	54936440		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54936440G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.3355G>A	12.37:g.54936440G>A	ENSP00000293373:p.Glu1119Lys					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E1069K	p.E1119K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			31	3434	+			1119					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.3355G>A	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514957	0.85389	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.32272	1.46;1.46	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	L	0.47716	1.5	0.52501	D	0.999954	D	0.69078	0.997	D	0.79108	0.992	T	0.10222	-1.0639	10	0.09338	T	0.73	-20.6294	16.6815	0.85292	0.0:0.0:1.0:0.0	.	1119	P55160	NCKPL_HUMAN	K	1119;1069	ENSP00000293373:E1119K;ENSP00000445596:E1069K	ENSP00000293373:E1119K	E	+	1	0	NCKAP1L	53222707	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.742000	0.85008	2.802000	0.96397	0.655000	0.94253	GAG		0.542	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		7	113	0	0	0	0.029380	0	7	113				
OAS3	4940	broad.mit.edu	37	12	113388602	113388602	+	Silent	SNP	C	C	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr12:113388602C>T	ENST00000228928.7	+	7	1658	c.1479C>T	c.(1477-1479)cgC>cgT	p.R493R	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	493	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GGCCCCGCCGCGCAGAGATCC	0.582																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(1477-1479)cgC>cgT		2'-5'-oligoadenylate synthetase 3, 100kDa							78.0	86.0	84.0					12																	113388602		1943	4120	6063	SO:0001819	synonymous_variant	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113388602C>T	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1479C>T	12.37:g.113388602C>T						RP1-71H24.1_ENST00000552784.1_RNA	p.R493R	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			7	1658	+			493			OAS domain 2.		Q2HJ14|Q9H3P5	Silent	SNP	ENST00000228928.7	37	c.1479C>T	CCDS44981.1																																																																																				0.582	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			23	95	0	0	0	0.083992	0	23	95				
SIK1	150094	broad.mit.edu	37	21	44836663	44836663	+	Silent	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr21:44836663G>A	ENST00000270162.6	-	14	2443	c.2311C>T	c.(2311-2313)Ctg>Ttg	p.L771L		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	771					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CAGGGCATCAGGTCCTCCATC	0.657																																						ENST00000270162.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						c.(2311-2313)Ctg>Ttg		salt-inducible kinase 1							33.0	34.0	34.0					21																	44836663		2201	4299	6500	SO:0001819	synonymous_variant	150094				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr21:44836663G>A	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.2311C>T	21.37:g.44836663G>A							p.L771L	NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN			14	2443	-			771					A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Silent	SNP	ENST00000270162.6	37	c.2311C>T	CCDS33575.1																																																																																				0.657	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		9	26	0	0	0	0.058154	0	9	26				
MT-ND6	4541	broad.mit.edu	37	M	14285	14285	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chrM:14285T>C	ENST00000361681.2	-	1	388	c.389A>G	c.(388-390)gAg>gGg	p.E130G	MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	130					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						ACCCTGACCCCTCTCCTTCAT	0.458																																						ENST00000361681.2																			0				breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						c.(388-390)gAg>gGg		mitochondrially encoded NADH dehydrogenase 6																																				SO:0001583	missense	4541							g.chrM:14285T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.389A>G	M.37:g.14285T>C	ENSP00000354665:p.Glu130Gly						p.E130G							1	388	-								Q34774|Q8HG30	Missense_Mutation	SNP	ENST00000361681.2	37	c.389A>G																																																																																					0.458	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024037		5	53	0	0	0	0.014758	0	5	53				
TSPAN14	81619	broad.mit.edu	37	10	82267030	82267030	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr10:82267030A>G	ENST00000429989.3	+	4	402	c.179A>G	c.(178-180)gAc>gGc	p.D60G	TSPAN14_ENST00000341863.6_Missense_Mutation_p.D60G|TSPAN14_ENST00000372158.1_Missense_Mutation_p.D60G|TSPAN14_ENST00000372156.1_Missense_Mutation_p.D60G|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372164.3_Missense_Mutation_p.D43G	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	60					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			CATGGAATCGACCCTGTGGTG	0.592																																						ENST00000429989.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(178-180)gAc>gGc		tetraspanin 14							140.0	120.0	127.0					10																	82267030		2203	4300	6503	SO:0001583	missense	81619					integral to membrane		g.chr10:82267030A>G	AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"""Tetraspanins"""	23303	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 14"""	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.179A>G	10.37:g.82267030A>G	ENSP00000396270:p.Asp60Gly					TSPAN14_ENST00000372158.1_Missense_Mutation_p.D60G|TSPAN14_ENST00000341863.6_Missense_Mutation_p.D60G|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372164.3_Missense_Mutation_p.D43G|TSPAN14_ENST00000372156.1_Missense_Mutation_p.D60G	p.D60G	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	Colorectal(32;0.229)		4	402	+			60					A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Missense_Mutation	SNP	ENST00000429989.3	37	c.179A>G	CCDS7369.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.599488	0.87055	.	.	ENSG00000108219	ENST00000429989;ENST00000372160;ENST00000372157;ENST00000372164;ENST00000372158;ENST00000341863;ENST00000372156	T;T;T;T;T;T	0.78816	-1.21;2.91;-1.21;-1.21;-1.21;-1.21	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.84964	0.5589	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.986;0.99	T	0.83271	-0.0043	10	0.28530	T	0.3	-34.6248	12.6842	0.56938	1.0:0.0:0.0:0.0	.	60;43	Q8NG11;Q8NG11-2	TSN14_HUMAN;.	G	60;60;30;43;60;60;60	ENSP00000396270:D60G;ENSP00000361230:D30G;ENSP00000361237:D43G;ENSP00000361231:D60G;ENSP00000344076:D60G;ENSP00000361229:D60G	ENSP00000344076:D60G	D	+	2	0	TSPAN14	82257010	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.144000	0.94629	1.939000	0.56221	0.454000	0.30748	GAC		0.592	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049081.2	NM_030927		3	40	0	0	0	0.014758	0	3	40				
HIST1H4B	8366	broad.mit.edu	37	6	26027331	26027331	+	Missense_Mutation	SNP	C	C	G	rs369387838		TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr6:26027331C>G	ENST00000377364.3	-	1	149	c.150G>C	c.(148-150)ttG>ttC	p.L50F		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	50					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CCTCATAAATCAAACCGGAAA	0.562																																						ENST00000377364.3																			0				large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(148-150)ttG>ttC		histone cluster 1, H4b							81.0	72.0	75.0					6																	26027331		2203	4300	6503	SO:0001583	missense	8366				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26027331C>G	X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"""Histones / Replication-dependent"""	4789	protein-coding gene	gene with protein product		602829	"""H4 histone family, member I"", ""histone 1, H4b"""	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.150G>C	6.37:g.26027331C>G	ENSP00000366581:p.Leu50Phe						p.L50F	NM_003544.2	NP_003535.1	P62805	H4_HUMAN			1	149	-			50					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377364.3	37	c.150G>C	CCDS4572.1	.	.	.	.	.	.	.	.	.	.	c	9.243	1.038722	0.19669	.	.	ENSG00000124529	ENST00000377364	T	0.67865	-0.29	4.65	-3.15	0.05233	.	0.000000	0.47093	U	0.000255	T	0.46229	0.1382	.	.	.	0.26830	N	0.968603	.	.	.	.	.	.	T	0.56177	-0.8022	7	0.59425	D	0.04	.	8.896	0.35465	0.1961:0.2621:0.5418:0.0	.	.	.	.	F	50	ENSP00000366581:L50F	ENSP00000366581:L50F	L	-	3	2	HIST1H4B	26135310	0.955000	0.32602	0.105000	0.21289	0.000000	0.00434	-0.020000	0.12525	-0.864000	0.04078	-1.104000	0.02111	TTG		0.562	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544		25	46	0	0	0	0.116897	0	25	46				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			5	51	0	0	0	0.029380	0	5	51				
MAGED1	9500	broad.mit.edu	37	X	51644751	51644751	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chrX:51644751G>A	ENST00000375722.1	+	12	2314	c.2062G>A	c.(2062-2064)Gct>Act	p.A688T	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Missense_Mutation_p.A744T|MAGED1_ENST00000326587.7_Missense_Mutation_p.A688T|MAGED1_ENST00000375772.3_Missense_Mutation_p.A688T			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	688					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CGAAGCCCGGGCTGAAGCAAG	0.577										Multiple Myeloma(10;0.10)																												ENST00000375695.2																			0				breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(2230-2232)Gct>Act		melanoma antigen family D, 1							64.0	57.0	59.0					X																	51644751		2203	4300	6503	SO:0001583	missense	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51644751G>A	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.2062G>A	X.37:g.51644751G>A	ENSP00000364874:p.Ala688Thr	Multiple Myeloma(10;0.10)				MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.A688T|MAGED1_ENST00000375722.1_Missense_Mutation_p.A688T|MAGED1_ENST00000326587.7_Missense_Mutation_p.A688T	p.A744T	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN			13	2383	+	Ovarian(276;0.236)		688					Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	c.2230G>A	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805372	0.50315	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.04654	3.61;3.61;3.61;3.58	4.09	4.09	0.47781	.	0.000000	0.43579	D	0.000543	T	0.11495	0.0280	L	0.34521	1.04	0.34623	D	0.718777	D;D	0.67145	0.996;0.993	D;D	0.77557	0.99;0.977	T	0.07908	-1.0748	10	0.62326	D	0.03	.	10.6836	0.45830	0.0:0.0:1.0:0.0	.	744;688	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	T	688;688;688;744	ENSP00000364927:A688T;ENSP00000364874:A688T;ENSP00000325333:A688T;ENSP00000364847:A744T	ENSP00000325333:A688T	A	+	1	0	MAGED1	51661491	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.578000	0.53892	2.284000	0.76573	0.513000	0.50165	GCT		0.577	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		17	5	0	0	0	0.033300	0	17	5				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	97	0	0	0	0.038147	0	4	97				
CAMKV	79012	broad.mit.edu	37	3	49898222	49898222	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr3:49898222C>A	ENST00000477224.1	-	8	1180	c.702G>T	c.(700-702)aaG>aaT	p.K234N	CAMKV_ENST00000498324.1_5'Flank|CAMKV_ENST00000463537.1_Missense_Mutation_p.K234N|CAMKV_ENST00000466940.1_Missense_Mutation_p.K191N|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000467248.1_Missense_Mutation_p.K159N|CAMKV_ENST00000488336.1_Missense_Mutation_p.K234N|CAMKV_ENST00000296471.7_Missense_Mutation_p.K206N			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	234	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGAAGAGATTCTTATCATGGT	0.502																																						ENST00000477224.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7						c.(700-702)aaG>aaT		CaM kinase-like vesicle-associated							197.0	193.0	194.0					3																	49898222		2203	4300	6503	SO:0001583	missense	79012					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr3:49898222C>A	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.702G>T	3.37:g.49898222C>A	ENSP00000419195:p.Lys234Asn					CAMKV_ENST00000466940.1_Missense_Mutation_p.K191N|CAMKV_ENST00000296471.7_Missense_Mutation_p.K206N|CAMKV_ENST00000488336.1_Missense_Mutation_p.K234N|CAMKV_ENST00000463537.1_Missense_Mutation_p.K234N|CAMKV_ENST00000467248.1_Missense_Mutation_p.K159N	p.K234N			Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	8	1180	-			234			Protein kinase.		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	ENST00000477224.1	37	c.702G>T	CCDS33762.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491901	0.44352	.	.	ENSG00000164076	ENST00000296471;ENST00000488336;ENST00000463537;ENST00000477224;ENST00000467248;ENST00000466940	T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.21	2.22	0.28083	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44483	D	0.000447	T	0.59865	0.2225	N	0.21324	0.655	0.50039	D	0.99984	D;D;D;D;D;D;D	0.76494	0.992;0.997;0.996;0.996;0.996;0.999;0.996	P;D;D;D;P;D;D	0.70935	0.872;0.971;0.935;0.935;0.893;0.936;0.935	T	0.59820	-0.7382	10	0.54805	T	0.06	.	5.51	0.16876	0.0:0.5709:0.1464:0.2827	.	191;197;234;159;206;234;234	E7ETR1;B4DMF2;B2RDF9;B4DM24;Q8NCB2-2;Q8NCB2-3;Q8NCB2	.;.;.;.;.;.;CAMKV_HUMAN	N	206;234;234;234;159;191	ENSP00000296471:K206N;ENSP00000418809:K234N;ENSP00000417614:K234N;ENSP00000419195:K234N;ENSP00000420053:K159N;ENSP00000420724:K191N	ENSP00000296471:K206N	K	-	3	2	CAMKV	49873226	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.599000	0.36751	1.322000	0.45245	0.561000	0.74099	AAG		0.502	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		21	142	1	0	1.96292e-10	0.055883	2.45365e-10	21	142				
MAML1	9794	broad.mit.edu	37	5	179200917	179200917	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr5:179200917G>A	ENST00000292599.3	+	5	2353	c.2090G>A	c.(2089-2091)gGc>gAc	p.G697D	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGTGCCCGGCATGAACACC	0.587																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(2089-2091)gGc>gAc		mastermind-like 1 (Drosophila)							129.0	131.0	130.0					5																	179200917		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179200917G>A	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2090G>A	5.37:g.179200917G>A	ENSP00000292599:p.Gly697Asp					MAML1_ENST00000503050.1_Intron	p.G697D	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	2353	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	697						Missense_Mutation	SNP	ENST00000292599.3	37	c.2090G>A	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141521	0.77775	.	.	ENSG00000161021	ENST00000292599	T	0.53206	0.63	4.67	4.67	0.58626	.	0.000000	0.64402	D	0.000002	T	0.65249	0.2673	L	0.58101	1.795	0.58432	D	0.999993	D	0.89917	1.0	D	0.71184	0.972	T	0.68281	-0.5450	10	0.56958	D	0.05	-19.2681	17.576	0.87949	0.0:0.0:1.0:0.0	.	697	Q92585	MAML1_HUMAN	D	697	ENSP00000292599:G697D	ENSP00000292599:G697D	G	+	2	0	MAML1	179133523	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.666000	0.61554	2.149000	0.67028	0.462000	0.41574	GGC		0.587	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		4	132	0	0	0	0.014758	0	4	132				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			3	36	1	0	0.004672	0.115264	0.005256	3	36				
BBX	56987	broad.mit.edu	37	3	107429455	107429455	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr3:107429455G>A	ENST00000325805.8	+	4	435	c.148G>A	c.(148-150)Gag>Aag	p.E50K	BBX_ENST00000416476.2_Missense_Mutation_p.E50K|BBX_ENST00000415149.2_Missense_Mutation_p.E50K|BBX_ENST00000402543.1_Missense_Mutation_p.E50K|BBX_ENST00000406780.1_Missense_Mutation_p.E50K			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	50	Poly-Glu.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			agacgaagaggaggaTATTGA	0.348																																						ENST00000415149.2																			0				breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49						c.(148-150)Gag>Aag		bobby sox homolog (Drosophila)							64.0	59.0	61.0					3																	107429455		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107429455G>A	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.148G>A	3.37:g.107429455G>A	ENSP00000319974:p.Glu50Lys					BBX_ENST00000325805.8_Missense_Mutation_p.E50K|BBX_ENST00000416476.2_Missense_Mutation_p.E50K|BBX_ENST00000406780.1_Missense_Mutation_p.E50K|BBX_ENST00000402543.1_Missense_Mutation_p.E50K	p.E50K	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		4	475	+			50			Poly-Glu.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.148G>A	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444084	0.63067	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000427402;ENST00000416476;ENST00000431630;ENST00000449335;ENST00000456817;ENST00000458458;ENST00000437908;ENST00000456419;ENST00000402163;ENST00000406780;ENST00000413213;ENST00000449271;ENST00000449213;ENST00000457496;ENST00000429270	D;D;D;D;D;D;D;D;D;D;D;D;D	0.98701	-4.57;-4.59;-4.59;-4.96;-5.05;-4.94;-4.96;-5.08;-4.57;-4.36;-1.84;-4.53;-4.53	5.66	5.66	0.87406	.	0.367561	0.33834	N	0.004512	D	0.98362	0.9456	L	0.27053	0.805	0.58432	D	0.999998	B;B;D;B	0.69078	0.001;0.001;0.997;0.0	B;B;D;B	0.75020	0.004;0.003;0.985;0.001	D	0.99913	1.1210	10	0.87932	D	0	-2.6004	19.7304	0.96180	0.0:0.0:1.0:0.0	.	50;50;50;50	C9JA69;Q8WY36;A2RRM7;Q8WY36-2	.;BBX_HUMAN;.;.	K	50	ENSP00000408358:E50K;ENSP00000385317:E50K;ENSP00000319974:E50K;ENSP00000413320:E50K;ENSP00000403860:E50K;ENSP00000408297:E50K;ENSP00000413274:E50K;ENSP00000385518:E50K;ENSP00000385530:E50K;ENSP00000403806:E50K;ENSP00000406554:E50K;ENSP00000407662:E50K;ENSP00000414673:E50K	ENSP00000319974:E50K	E	+	1	0	BBX	108912145	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	6.937000	0.75898	2.836000	0.97738	0.650000	0.86243	GAG		0.348	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		6	33	0	0	0	0.021553	0	6	33				
MUC16	94025	broad.mit.edu	37	19	9082462	9082462	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr19:9082462G>A	ENST00000397910.4	-	1	9556	c.9353C>T	c.(9352-9354)tCt>tTt	p.S3118F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3119	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGGTCTCAGATGGTGTGAA	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(9352-9354)tCt>tTt		mucin 16, cell surface associated							280.0	293.0	289.0					19																	9082462		1977	4163	6140	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9082462G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9353C>T	19.37:g.9082462G>A	ENSP00000381008:p.Ser3118Phe						p.S3118F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	9556	-			3119			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.9353C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.919362	0.00498	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	0.541	-0.987	0.10249	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	.	.	.	B	0.21821	0.061	B	0.14578	0.011	T	0.48115	-0.9063	7	0.87932	D	0	.	.	.	.	.	3118	B5ME49	.	F	3118	ENSP00000381008:S3118F	ENSP00000381008:S3118F	S	-	2	0	MUC16	8943462	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.290000	0.18975	-2.028000	0.00931	-2.281000	0.00270	TCT		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	258	0	0	0	0.014758	0	5	258				
FAM179A	165186	broad.mit.edu	37	2	29226385	29226385	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr2:29226385T>A	ENST00000379558.4	+	6	1018	c.667T>A	c.(667-669)Tgc>Agc	p.C223S	FAM179A_ENST00000403861.2_Missense_Mutation_p.C223S	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	223										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATACCTGCACTGCAATGATGA	0.622																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(667-669)Tgc>Agc		family with sequence similarity 179, member A							34.0	40.0	38.0					2																	29226385		2091	4205	6296	SO:0001583	missense	165186						binding	g.chr2:29226385T>A	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.667T>A	2.37:g.29226385T>A	ENSP00000368876:p.Cys223Ser					FAM179A_ENST00000403861.2_Missense_Mutation_p.C223S	p.C223S	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			6	1018	+			223					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.667T>A	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	T	14.13	2.443235	0.43429	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.44482	1.69;0.92	5.01	5.01	0.66863	.	.	.	.	.	T	0.31231	0.0790	L	0.32530	0.975	0.30849	N	0.734831	B;B	0.12630	0.006;0.003	B;B	0.12156	0.007;0.005	T	0.23547	-1.0185	9	0.19147	T	0.46	.	11.1094	0.48223	0.0:0.0:0.0:1.0	.	223;223	F8W8E4;Q6ZUX3	.;F179A_HUMAN	S	223	ENSP00000368876:C223S;ENSP00000384699:C223S	ENSP00000368876:C223S	C	+	1	0	FAM179A	29079889	0.991000	0.36638	0.995000	0.50966	0.650000	0.38633	1.328000	0.33758	1.889000	0.54706	0.402000	0.26972	TGC		0.622	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		4	4	0	0	0	0.009096	0	4	4				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	50	0	0	0	0.115264	0	3	50				
HSPA8	3312	broad.mit.edu	37	11	122931873	122931873	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr11:122931873C>T	ENST00000532636.1	-	2	279	c.160G>A	c.(160-162)Gcc>Acc	p.A54T	SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000526110.1_Missense_Mutation_p.A54T|HSPA8_ENST00000534319.1_5'Flank|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.A54T|HSPA8_ENST00000533540.1_Missense_Mutation_p.A54T|HSPA8_ENST00000534624.1_Missense_Mutation_p.A54T|HSPA8_ENST00000453788.2_Missense_Mutation_p.A54T			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	54					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTCTTTGCGGCATCACCGATC	0.438																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(160-162)Gcc>Acc		heat shock 70kDa protein 8							86.0	72.0	77.0					11																	122931873		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122931873C>T	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.160G>A	11.37:g.122931873C>T	ENSP00000437125:p.Ala54Thr					HSPA8_ENST00000526110.1_Missense_Mutation_p.A54T|HSPA8_ENST00000227378.3_Missense_Mutation_p.A54T|HSPA8_ENST00000532636.1_Missense_Mutation_p.A54T|HSPA8_ENST00000453788.2_Missense_Mutation_p.A54T|HSPA8_ENST00000533540.1_Missense_Mutation_p.A54T	p.A54T	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	2	436	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	54					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.160G>A	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157373	0.78114	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000525463;ENST00000525624;ENST00000534567;ENST00000527387;ENST00000532182;ENST00000524590;ENST00000530391	T;T;T;T;T;T;T;T;T;T;T;T;T	0.04194	5.37;5.37;5.37;5.37;5.37;5.37;3.68;5.37;5.37;5.37;5.37;5.37;5.37	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.20577	0.0495	M	0.92833	3.35	0.80722	D	1	P;P;B;B;P	0.47762	0.745;0.9;0.416;0.362;0.9	P;P;B;B;P	0.49140	0.527;0.601;0.139;0.085;0.601	T	0.29336	-1.0015	10	0.87932	D	0	-16.5281	17.4081	0.87479	0.0:1.0:0.0:0.0	.	54;54;54;54;54	B4DTX2;Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;.;HSP7C_HUMAN	T	54	ENSP00000437125:A54T;ENSP00000437189:A54T;ENSP00000432083:A54T;ENSP00000404372:A54T;ENSP00000227378:A54T;ENSP00000433584:A54T;ENSP00000436762:A54T;ENSP00000435154:A54T;ENSP00000431641:A54T;ENSP00000436183:A54T;ENSP00000434415:A54T;ENSP00000434565:A54T;ENSP00000434851:A54T	ENSP00000227378:A54T	A	-	1	0	HSPA8	122437083	1.000000	0.71417	0.982000	0.44146	0.234000	0.25298	7.816000	0.86201	2.151000	0.67156	0.484000	0.47621	GCC		0.438	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			9	64	0	0	0	0.047766	0	9	64				
ABCC5	10057	broad.mit.edu	37	3	183655701	183655701	+	Missense_Mutation	SNP	C	C	A	rs377607475		TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr3:183655701C>A	ENST00000334444.6	-	26	4082	c.3842G>T	c.(3841-3843)aGt>aTt	p.S1281I	ABCC5_ENST00000265586.6_Missense_Mutation_p.S1238I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1281	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GACAGTGCCACTGAACAGCAC	0.552																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3841-3843)aGt>aTt		ATP-binding cassette, sub-family C (CFTR/MRP), member 5		C	ILE/SER	0,4248		0,0,2124	67.0	70.0	69.0		3842	5.5	1.0	3		69	1,8475		0,1,4237	no	missense	ABCC5	NM_005688.2	142	0,1,6361	AA,AC,CC		0.0118,0.0,0.0079	benign	1281/1438	183655701	1,12723	2124	4238	6362	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183655701C>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3842G>T	3.37:g.183655701C>A	ENSP00000333926:p.Ser1281Ile					ABCC5_ENST00000265586.6_Missense_Mutation_p.S1238I	p.S1281I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		26	4082	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1281			ABC transporter 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.3842G>T	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	8.087	0.773689	0.16051	0.0	1.18E-4	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.94138	-3.36;-3.36	5.49	5.49	0.81192	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.044196	0.85682	D	0.000000	D	0.95217	0.8449	M	0.89095	3.005	0.58432	D	0.999999	B;P	0.42039	0.015;0.769	B;P	0.45829	0.048;0.494	D	0.94019	0.7291	10	0.18710	T	0.47	-16.0933	19.3693	0.94479	0.0:1.0:0.0:0.0	.	1238;1281	Q86UX3;O15440	.;MRP5_HUMAN	I	1281;1238	ENSP00000333926:S1281I;ENSP00000265586:S1238I	ENSP00000265586:S1238I	S	-	2	0	ABCC5	185138395	0.980000	0.34600	0.998000	0.56505	0.975000	0.68041	2.506000	0.45433	2.583000	0.87209	0.655000	0.94253	AGT		0.552	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		9	49	1	0	0.000274275	0.047766	0.000324799	9	49				
IFT46	56912	broad.mit.edu	37	11	118422948	118422948	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr11:118422948C>T	ENST00000264021.3	-	8	1004	c.586G>A	c.(586-588)Gcg>Acg	p.A196T	IFT46_ENST00000530872.1_Missense_Mutation_p.A247T|IFT46_ENST00000264020.2_Missense_Mutation_p.A247T	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	196					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TGCACAGTCGCAGGGGGCTTA	0.443																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(739-741)Gcg>Acg		intraflagellar transport 46 homolog (Chlamydomonas)							212.0	184.0	193.0					11																	118422948		2200	4295	6495	SO:0001583	missense	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118422948C>T	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"""Intraflagellar transport homologs"""	26146	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 32"""		"""chromosome 11 open reading frame 60"", ""intraflagellar transport 46 homolog (Chlamydomonas)"""	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.586G>A	11.37:g.118422948C>T	ENSP00000264021:p.Ala196Thr					IFT46_ENST00000530872.1_Missense_Mutation_p.A247T|IFT46_ENST00000264021.3_Missense_Mutation_p.A196T	p.A247T	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			9	1116	-			196					A8K0F6|Q9H6V5	Missense_Mutation	SNP	ENST00000264021.3	37	c.739G>A	CCDS53718.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716135	0.89205	.	.	ENSG00000118096	ENST00000264021;ENST00000264020;ENST00000530872;ENST00000531939	T;T;T;T	0.53423	0.85;0.84;0.85;0.62	5.64	5.64	0.86602	.	0.052249	0.85682	D	0.000000	T	0.66963	0.2843	M	0.70275	2.135	0.80722	D	1	D;P;P	0.61697	0.99;0.476;0.48	P;B;B	0.60173	0.87;0.223;0.28	T	0.68228	-0.5464	10	0.59425	D	0.04	0.0092	19.683	0.95971	0.0:1.0:0.0:0.0	.	247;196;247	E9PR06;Q9NQC8;Q9NQC8-2	.;IFT46_HUMAN;.	T	196;247;247;196	ENSP00000264021:A196T;ENSP00000264020:A247T;ENSP00000432384:A247T;ENSP00000435826:A196T	ENSP00000264020:A247T	A	-	1	0	IFT46	117928158	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.654000	0.74387	2.653000	0.90120	0.561000	0.74099	GCG		0.443	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		5	154	0	0	0	0.014758	0	5	154				
UGT1A1	54658	broad.mit.edu	37	2	234669699	234669699	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr2:234669699T>C	ENST00000608383.1	+	1	766	c.766T>C	c.(766-768)Ttt>Ctt	p.F256L	UGT1A8_ENST00000305208.5_Missense_Mutation_p.F256L|UGT1A1_ENST00000608381.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000360418.3_Missense_Mutation_p.F256L|UGT1A1_ENST00000609767.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	256					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TGTCTGGCTGTTTAGAAGTGA	0.483																																						ENST00000360418.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(766-768)Ttt>Ctt			Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						180.0	177.0	178.0					2																	234669699		2203	4300	6503	SO:0001583	missense	0				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234669699T>C	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.766T>C	2.37:g.234669699T>C	ENSP00000476741:p.Phe256Leu					UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.F256L	p.F256L			P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	1	766	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	256					A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000608383.1	37	c.766T>C	CCDS2510.1	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.453833	0.01071	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.51817	0.69;0.69	5.55	-11.1	0.00147	.	.	.	.	.	T	0.10078	0.0247	N	0.00514	-1.41	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.20384	0.029;0.002	T	0.19031	-1.0318	9	0.15952	T	0.53	.	2.1448	0.03784	0.3579:0.2102:0.0693:0.3626	.	256;256	A6NJC3;P22309	.;UD11_HUMAN	L	256	ENSP00000304845:F256L;ENSP00000353593:F256L	ENSP00000304845:F256L	F	+	1	0	UGT1A1	234334438	0.000000	0.05858	0.000000	0.03702	0.232000	0.25224	-3.863000	0.00347	-3.237000	0.00208	-1.139000	0.01908	TTT		0.483	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding				5	184	0	0	0	0.014758	0	5	184				
PCLO	27445	broad.mit.edu	37	7	82545550	82545550	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr7:82545550G>A	ENST00000333891.9	-	7	12089	c.11752C>T	c.(11752-11754)Caa>Taa	p.Q3918*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.Q3918*|PCLO_ENST00000437081.1_Nonsense_Mutation_p.Q638*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTGAAACTTGCTGATGGTAC	0.458																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(11752-11754)Caa>Taa		piccolo presynaptic cytomatrix protein							404.0	401.0	402.0					7																	82545550		2028	4176	6204	SO:0001587	stop_gained	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545550G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11752C>T	7.37:g.82545550G>A	ENSP00000334319:p.Gln3918*					PCLO_ENST00000437081.1_Nonsense_Mutation_p.Q638*|PCLO_ENST00000333891.8_Nonsense_Mutation_p.Q3918*	p.Q3918*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	12089	-			3849						Nonsense_Mutation	SNP	ENST00000333891.9	37	c.11752C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117547	0.94385	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	.	.	.	5.51	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.0367	0.80635	0.0:0.1432:0.8568:0.0	.	.	.	.	X	3918;3918;638	.	ENSP00000334319:Q3918X	Q	-	1	0	PCLO	82383486	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.517000	0.73759	1.342000	0.45619	0.563000	0.77884	CAA		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		7	433	0	0	0	0.029380	0	7	433				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		34	55	0	0	0	0.069456	0	34	55				
RPL32P3	132241	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	C	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr3:129116038C>T	ENST00000514355.1	-	0	412				SNORA7B_ENST00000384360.1_RNA					ribosomal protein L32 pseudogene 3											lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567																																						ENST00000514355.1																			0				lung(1)	1															146.0	143.0	144.0					3																	129116038		876	1991	2867			0							g.chr3:129116038C>T	AK096589, AL117606		3q21.3	2014-03-20			ENSG00000251474	ENSG00000251474			27024	pseudogene	pseudogene						12477932	Standard	NR_003111		Approved		uc003ema.4		OTTHUMG00000159465		3.37:g.129116038C>T														0	412	-									RNA	SNP	ENST00000514355.1	37																																																																																						0.567	RPL32P3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000355880.1			6	161	0	0	0	0.021553	0	6	161				
LILRP2	79166	broad.mit.edu	37	19	55221926	55221926	+	RNA	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr19:55221926G>A	ENST00000413439.1	+	0	1453									leukocyte immunoglobulin-like receptor pseudogene 2																		CGGTGCAGCCGGGCCCCACGG	0.642																																					Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55221926G>A	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221926G>A														0	1453	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.642	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		5	42	0	0	0	0.029380	0	5	42				
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			3	6						3	6	---	---	---	---
VAV2	7410	broad.mit.edu	37	9	136635556	136635556	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr9:136635556delT	ENST00000371850.3	-	27	2322	c.2291delA	c.(2290-2292)aagfs	p.K764fs	VAV2_ENST00000406606.3_Frame_Shift_Del_p.K754fs|VAV2_ENST00000371851.1_Frame_Shift_Del_p.K754fs	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	764	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GTAGGGGTACTTGAGTGTGGT	0.637																																						ENST00000371851.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(2260-2262)agfs		vav 2 guanine nucleotide exchange factor							165.0	126.0	139.0					9																	136635556		2203	4300	6503	SO:0001589	frameshift_variant	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136635556delT		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.2291delA	9.37:g.136635556delT	ENSP00000360916:p.Lys764fs					VAV2_ENST00000406606.3_Frame_Shift_Del_p.K754fs|VAV2_ENST00000371850.3_Frame_Shift_Del_p.K764fs	p.K754fs			P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	25	2586	-			764			SH2.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Frame_Shift_Del	DEL	ENST00000371850.3	37	c.2261delA	CCDS48053.1																																																																																				0.637	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			14	85						14	85	---	---	---	---
HERC2P4	100289574	broad.mit.edu	37	16	32126700	32126726	+	IGR	DEL	AATGTGAACATACAAAAAACAAATCAG	AATGTGAACATACAAAAAACAAATCAG	-	rs373550186|rs560721962	byFrequency	TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr16:32126700_32126726delAATGTGAACATACAAAAAACAAATCAG								RP11-1166P10.6 (30594 upstream) : HERC2P4 (54578 downstream)																							ATGCCTGCCAAATGTGAACATACAAAAAACAAATCAGAATGTGCCAT	0.352																																						ENST00000564145.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr16:32126700_32126726delAATGTGAACATACAAAAAACAAATCAG																													16.37:g.32126700_32126726delAATGTGAACATACAAAAAACAAATCAG														0	456	-									RNA	DEL		37																																																																																					0	0.352									5	6						5	6	---	---	---	---
DYNC1LI2	1783	broad.mit.edu	37	16	66757703	66757703	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr16:66757703delA	ENST00000258198.2	-	13	1607	c.1401delT	c.(1399-1401)aatfs	p.N467fs	DYNC1LI2_ENST00000443351.2_Frame_Shift_Del_p.N390fs|DYNC1LI2_ENST00000379482.2_Intron|RP11-63M22.2_ENST00000569274.1_RNA	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	467					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		CTTCCTGAACATTTGACAACA	0.333																																						ENST00000258198.2																			0				central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15						c.(1399-1401)aafs		dynein, cytoplasmic 1, light intermediate chain 2							123.0	109.0	114.0					16																	66757703		2201	4300	6501	SO:0001589	frameshift_variant	1783				transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity	g.chr16:66757703delA	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.1401delT	16.37:g.66757703delA	ENSP00000258198:p.Asn467fs					DYNC1LI2_ENST00000443351.2_Frame_Shift_Del_p.N390fs|RP11-63M22.2_ENST00000569274.1_RNA|DYNC1LI2_ENST00000379482.2_Intron	p.N467fs	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)	13	1607	-		Ovarian(137;0.0563)	467					A8K6V1|B4DZP4|Q8TAT3	Frame_Shift_Del	DEL	ENST00000258198.2	37	c.1401delT	CCDS10818.1																																																																																				0.333	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	NM_006141		10	75						10	75	---	---	---	---
FLT3LG	2323	broad.mit.edu	37	19	49982166	49982166	+	Splice_Site	DEL	C	C	-			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr19:49982166delC	ENST00000594009.1	+	5	422	c.343delC	c.(343-345)ccc>cc	p.P117fs	CTD-3148I10.9_ENST00000599536.1_Intron|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000596435.1_Intron|FLT3LG_ENST00000595510.1_Splice_Site_p.P35fs|FLT3LG_ENST00000597551.1_Splice_Site_p.P117fs|FLT3LG_ENST00000204637.2_Splice_Site_p.P35fs|FLT3LG_ENST00000600429.1_Splice_Site_p.P117fs|FLT3LG_ENST00000344019.3_Splice_Site_p.P117fs	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	117					embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)	p.S118fs*24(1)		large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTGCTCCCAGCCCCCCCCCAG	0.687																																						ENST00000595510.1																			1	Deletion - Frameshift(1)	p.S118fs*24(1)	upper_aerodigestive_tract(1)	large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10						c.e5-1		fms-related tyrosine kinase 3 ligand			,,	113,79,3848		12,0,89,8,63,1848	19.0	17.0	18.0		,,	4.7	1.0	19		18	174,123,7555		19,0,136,5,113,3653	no	codingComplex-near-splice,codingComplex-near-splice,codingComplex-near-splice	FLT3LG	NM_001459.3,NM_001204503.1,NM_001204502.1	,,	31,0,225,13,176,5501	A1A1,A1A2,A1R,A2A2,A2R,RR		3.7825,4.7525,4.112	,,	,,	49982166	287,202,11403	2122	4157	6279	SO:0001630	splice_region_variant	0				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	g.chr19:49982166delC	U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"""Endogenous ligands"""	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.343-1C>-	19.37:g.49982166delC						FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000597551.1_Splice_Site_p.P117_splice|FLT3LG_ENST00000594009.1_Splice_Site_p.P117_splice|FLT3LG_ENST00000204637.2_Splice_Site_p.P35_splice|FLT3LG_ENST00000600429.1_Splice_Site_p.P117_splice|FLT3LG_ENST00000596435.1_Intron|FLT3LG_ENST00000344019.3_Splice_Site_p.P117_splice|CTD-3148I10.9_ENST00000599536.1_Intron	p.P35_splice			P49771	FLT3L_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	5	398	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	117					A0AVC2|B9EGH2|Q05C96	Splice_Site	DEL	ENST00000594009.1	37	c.96_splice	CCDS12767.1																																																																																				0.687	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465305.1		Frame_Shift_Del	2	4						2	4	---	---	---	---
SCARNA15	677778	broad.mit.edu	37	20	41933319	41933319	+	RNA	DEL	A	A	-	rs570251544|rs79619980	byFrequency	TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr20:41933319delA	ENST00000516384.1	+	0	125									small Cajal body-specific RNA 15																		TATCaatagcaaaaaaaaaaa	0.318													|||unknown(HR)	672	0.134185	0.115	0.1556	5008	,	,		15276	0.1161		0.1431	False		,,,				2504	0.1544					ENST00000516384.1																			0																																																			0							g.chr20:41933319delA	AJ609485		15q25.2	2013-09-05			ENSG00000252690	ENSG00000252690		"""ncRNAs / Small nucleolar RNAs : Small cajal body-specific"""	32572	non-coding RNA	RNA, small nucleolar		612675					Standard	NR_003011		Approved	ACA45	uc002bjc.3				20.37:g.41933319delA														0	125	+									RNA	DEL	ENST00000516384.1	37																																																																																						0.318	SCARNA15.1-201	NOVEL	basic	snoRNA	snoRNA		NR_003011		3	6						3	6	---	---	---	---
LOC100129620	100129620	broad.mit.edu	37	1	99474094	99474094	+	RNA	DEL	A	A	-	rs531849287|rs57656522	byFrequency	TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr1:99474094delA	ENST00000425113.1	+	0	370					NR_033940.1																						AACAGCAACTAAAAAAAAAAA	0.353													|||unknown(HR)	1745	0.348442	0.32	0.3112	5008	,	,		17655	0.4415		0.3608	False		,,,				2504	0.3047					ENST00000425113.1																			0																																																			0							g.chr1:99474094delA																													1.37:g.99474094delA								NR_033940.1						0	370	+									RNA	DEL	ENST00000425113.1	37																																																																																						0.353	RP5-896L10.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000029675.2			3	3						3	3	---	---	---	---
VAV2	7410	broad.mit.edu	37	9	136635556	136635556	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr9:136635556delT	ENST00000371850.3	-	27	2322	c.2291delA	c.(2290-2292)aagfs	p.K764fs	VAV2_ENST00000406606.3_Frame_Shift_Del_p.K754fs|VAV2_ENST00000371851.1_Frame_Shift_Del_p.K754fs	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	764	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GTAGGGGTACTTGAGTGTGGT	0.637																																						ENST00000371851.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(2260-2262)agfs		vav 2 guanine nucleotide exchange factor							165.0	126.0	139.0					9																	136635556		2203	4300	6503	SO:0001589	frameshift_variant	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136635556delT		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.2291delA	9.37:g.136635556delT	ENSP00000360916:p.Lys764fs					VAV2_ENST00000406606.3_Frame_Shift_Del_p.K754fs|VAV2_ENST00000371850.3_Frame_Shift_Del_p.K764fs	p.K754fs			P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	25	2586	-			764			SH2.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Frame_Shift_Del	DEL	ENST00000371850.3	37	c.2261delA	CCDS48053.1																																																																																				0.637	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			14	85						14	85	---	---	---	---
DYNC1LI2	1783	broad.mit.edu	37	16	66757703	66757703	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr16:66757703delA	ENST00000258198.2	-	13	1607	c.1401delT	c.(1399-1401)aatfs	p.N467fs	DYNC1LI2_ENST00000443351.2_Frame_Shift_Del_p.N390fs|DYNC1LI2_ENST00000379482.2_Intron|RP11-63M22.2_ENST00000569274.1_RNA	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	467					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		CTTCCTGAACATTTGACAACA	0.333																																						ENST00000258198.2																			0				central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15						c.(1399-1401)aafs		dynein, cytoplasmic 1, light intermediate chain 2							123.0	109.0	114.0					16																	66757703		2201	4300	6501	SO:0001589	frameshift_variant	1783				transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity	g.chr16:66757703delA	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.1401delT	16.37:g.66757703delA	ENSP00000258198:p.Asn467fs					DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000443351.2_Frame_Shift_Del_p.N390fs|RP11-63M22.2_ENST00000569274.1_RNA	p.N467fs	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)	13	1607	-		Ovarian(137;0.0563)	467					A8K6V1|B4DZP4|Q8TAT3	Frame_Shift_Del	DEL	ENST00000258198.2	37	c.1401delT	CCDS10818.1																																																																																				0.333	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	NM_006141		10	75						10	75	---	---	---	---
SCARNA15	677778	broad.mit.edu	37	20	41933319	41933319	+	RNA	DEL	A	A	-	rs570251544|rs79619980	byFrequency	TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	b186202a-9853-4a96-8780-e8eb6f28981b	g.chr20:41933319delA	ENST00000516384.1	+	0	125									small Cajal body-specific RNA 15																		TATCaatagcaaaaaaaaaaa	0.318													|||unknown(HR)	672	0.134185	0.115	0.1556	5008	,	,		15276	0.1161		0.1431	False		,,,				2504	0.1544					ENST00000516384.1																			0																																																			0							g.chr20:41933319delA	AJ609485		15q25.2	2013-09-05			ENSG00000252690	ENSG00000252690		"""ncRNAs / Small nucleolar RNAs : Small cajal body-specific"""	32572	non-coding RNA	RNA, small nucleolar		612675					Standard	NR_003011		Approved	ACA45	uc002bjc.3				20.37:g.41933319delA														0	125	+									RNA	DEL	ENST00000516384.1	37																																																																																						0.318	SCARNA15.1-201	NOVEL	basic	snoRNA	snoRNA		NR_003011		3	6						3	6	---	---	---	---
