#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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					uc010flp.3																			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		Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.		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		Somatic				GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.R1215H|GLI2_uc002tmu.4_Missense_Mutation_p.R1198H	p.R1543H	NM_005270	NP_005261	WXS	Illumina GAIIx	Phase_I	P10070	GLI2_HUMAN			12	4658	+	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	1	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																																						uc003prh.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		Homo sapiens absent in melanoma 1 (AIM1), mRNA.							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		Somatic				AIM1_uc003pri.3_Missense_Mutation_p.S139I	p.S1335I	NM_001624	NP_001615	WXS	Illumina GAIIx	Phase_I	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)	10	4916	+	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	0	0	0	1	0	23	97				
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	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E1069K|RP11-1049A21.2_ENST00000547942.1_RNA	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																																						uc001sgc.4																			0		p.R1118L(1)		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		Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.							170.0	144.0	153.0					12																	54936440		2203	4300	6503	SO:0001583	missense	3071				B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|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 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 T cell proliferation|positive regulation of actin filament polymerization|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|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase 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		Somatic				NCKAP1L_uc010sox.2_Missense_Mutation_p.E661K|NCKAP1L_uc010soy.2_Missense_Mutation_p.E1069K	p.E1119K	NM_005337	NP_005328	WXS	Illumina GAIIx	Phase_I	P55160	NCKPL_HUMAN			30	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	1	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-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																																						uc001tug.3																			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		Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.							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|RNA binding|nucleotidyltransferase activity	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			Somatic					p.R493R	NM_006187	NP_006178	WXS	Illumina GAIIx	Phase_I	Q9Y6K5	OAS3_HUMAN			6	1566	+			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	1	0	23	95				
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_ENST00000481124.1_Intron|TSPAN14_ENST00000372164.3_Missense_Mutation_p.D43G|TSPAN14_ENST00000372156.1_Missense_Mutation_p.D60G|TSPAN14_ENST00000372158.1_Missense_Mutation_p.D60G|TSPAN14_ENST00000341863.6_Missense_Mutation_p.D60G	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																																						uc001kcj.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(178-180)gAc>gGc		Homo sapiens tetraspanin 14 (TSPAN14), transcript variant 1, mRNA.							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		Somatic				TSPAN14_uc009xss.3_Intron|TSPAN14_uc001kci.4_Missense_Mutation_p.D43G	p.D60G	NM_030927	NP_112189	WXS	Illumina GAIIx	Phase_I	Q8NG11	TSN14_HUMAN	Colorectal(32;0.229)		3	286	+			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	1	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-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																																						uc003nfr.3																			0				large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(148-150)ttG>ttC		Homo sapiens histone cluster 1, H4b (HIST1H4B), mRNA.							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		Somatic					p.L50F	NM_003544	NP_778224	WXS	Illumina GAIIx	Phase_I	P62805	H4_HUMAN			0	150	-			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	1	0	25	46				
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_ENST00000375695.2_Missense_Mutation_p.A744T|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.A688T|MAGED1_ENST00000326587.7_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)																												uc004dpn.3																			0				breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(2230-2232)Gct>Act		Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.							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)	Somatic				MAGED1_uc004dpm.3_Missense_Mutation_p.A688T|MAGED1_uc004dpo.3_Missense_Mutation_p.A688T	p.A744T	NM_001005333	NP_001005333	WXS	Illumina GAIIx	Phase_I	Q9Y5V3	MAGD1_HUMAN			12	2420	+	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	1	0	17	5				
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_ENST00000466940.1_Missense_Mutation_p.K191N|CAMKV_ENST00000467248.1_Missense_Mutation_p.K159N|CAMKV_ENST00000463537.1_Missense_Mutation_p.K234N|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000488336.1_Missense_Mutation_p.K234N|CAMKV_ENST00000296471.7_Missense_Mutation_p.K206N|CAMKV_ENST00000498324.1_5'Flank			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																																						uc003cxt.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7						c.(700-702)aaG>aaT		Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.							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		Somatic				CAMKV_uc011bcy.1_Missense_Mutation_p.K159N|CAMKV_uc003cxv.1_Missense_Mutation_p.K206N|CAMKV_uc003cxw.1_Missense_Mutation_p.K66N|CAMKV_uc003cxx.1_Missense_Mutation_p.K66N|CAMKV_uc003cxu.2_Missense_Mutation_p.K234N|CAMKV_uc011bcz.1_Missense_Mutation_p.K197N|CAMKV_uc011bda.1_Missense_Mutation_p.K191N|CAMKV_uc011bdb.1_Non-coding_Transcript	p.K234N	NM_024046	NP_076951	WXS	Illumina GAIIx	Phase_I	Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	7	895	-			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	0	0	0	1	0	21	142				
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_ENST00000415149.2_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			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																																						uc010hpr.3																			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		Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.							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		Somatic				BBX_uc003dwk.4_Missense_Mutation_p.E50K|BBX_uc003dwl.4_Missense_Mutation_p.E50K|BBX_uc010hps.1_Missense_Mutation_p.E71K|BBX_uc003dwm.4_Missense_Mutation_p.E50K	p.E50K	NM_001142568	NP_001136040	WXS	Illumina GAIIx	Phase_I	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		3	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	1	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-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																																						uc002mkp.3																			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		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							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		Somatic					p.S3118F	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			0	9557	-			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	1	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																																						uc010ezl.3																			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		Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.							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		Somatic				FAM179A_uc010ymm.2_Missense_Mutation_p.C223S	p.C223S	NM_199280	NP_954974	WXS	Illumina GAIIx	Phase_I	Q6ZUX3	F179A_HUMAN			5	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	1	0	4	4				
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	HSPA8_ENST00000534624.1_Missense_Mutation_p.A54T|HSPA8_ENST00000526110.1_Missense_Mutation_p.A54T|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534319.1_5'Flank|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.A54T|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.A54T|HSPA8_ENST00000533540.1_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)	uc001pyo.3																			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		Homo sapiens heat shock 70kDa protein 8 (HSPA8), transcript variant 1, mRNA.							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		Somatic				HSPA8_uc009zbc.3_5'Flank|HSPA8_uc001pyp.3_Missense_Mutation_p.A54T|HSPA8_uc010rzu.2_Missense_Mutation_p.A54T|HSPA8_uc009zbd.2_Missense_Mutation_p.A54T|HSPA8_uc010rzv.1_Missense_Mutation_p.A54T	p.A54T	NM_006597	NP_006588	WXS	Illumina GAIIx	Phase_I	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	295	-		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	1	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																																						uc003fmg.3																			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		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.		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		Somatic				ABCC5_uc011bqt.2_Missense_Mutation_p.S809I|ABCC5_uc010hxl.3_Missense_Mutation_p.S1238I	p.S1281I	NM_005688	NP_005679	WXS	Illumina GAIIx	Phase_I	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		25	4007	-	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	0	0	0	1	0	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																																						uc001pto.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(739-741)Gcg>Acg		Homo sapiens intraflagellar transport 46 homolog (Chlamydomonas) (IFT46), transcript variant 1, mRNA.							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		Somatic				IFT46_uc001ptp.2_Missense_Mutation_p.A196T	p.A247T	NM_020153	NP_064538	WXS	Illumina GAIIx	Phase_I	Q9NQC8	IFT46_HUMAN			8	1158	-			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	1	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																																						uc002zdf.2																			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		Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.							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			Somatic					p.L771L	NM_173354	NP_775490	WXS	Illumina GAIIx	Phase_I	P57059	SIK1_HUMAN			13	2438	-			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	1	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	UGT1A1_ENST00000360418.3_Missense_Mutation_p.F256L|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.F256L|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_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																																						uc002vvb.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		Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1), mRNA.	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	54658				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		Somatic				UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron|UGT1A1_uc002vva.3_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.F256L	p.F256L	NM_000463	NP_000454	WXS	Illumina GAIIx	Phase_I	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)	0	781	+		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	1	0	5	184				
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																																						uc003uxp.1																			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		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							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		Somatic				MUC17_uc010lho.1_Non-coding_Transcript	p.P3155S	NM_001040105	NP_001035194	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			2	9516	+	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	1	0	6	382				
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)	uc003vwc.4	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	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	1	0	34	55				
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					uc010flp.3																			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		Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.		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		Somatic				GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.R1215H|GLI2_uc002tmu.4_Missense_Mutation_p.R1198H	p.R1543H	NM_005270	NP_005261	WXS	Illumina GAIIx	Phase_I	P10070	GLI2_HUMAN			12	4658	+	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	1	0	15	112				
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																																						uc003fmg.3																			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		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.		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		Somatic				ABCC5_uc011bqt.2_Missense_Mutation_p.S809I|ABCC5_uc010hxl.3_Missense_Mutation_p.S1238I	p.S1281I	NM_005688	NP_005679	WXS	Illumina GAIIx	Phase_I	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		25	4007	-	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	0	0	0	1	0	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																																						uc001pto.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(739-741)Gcg>Acg		Homo sapiens intraflagellar transport 46 homolog (Chlamydomonas) (IFT46), transcript variant 1, mRNA.							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		Somatic				IFT46_uc001ptp.2_Missense_Mutation_p.A196T	p.A247T	NM_020153	NP_064538	WXS	Illumina GAIIx	Phase_I	Q9NQC8	IFT46_HUMAN			8	1158	-			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	1	0	5	154				
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																																						uc002mkp.3																			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		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							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		Somatic					p.S3118F	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			0	9557	-			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	1	0	5	258				
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																																						uc003nfr.3																			0				large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(148-150)ttG>ttC		Homo sapiens histone cluster 1, H4b (HIST1H4B), mRNA.							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		Somatic					p.L50F	NM_003544	NP_778224	WXS	Illumina GAIIx	Phase_I	P62805	H4_HUMAN			0	150	-			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	1	0	25	46				
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																																						uc002zdf.2																			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		Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.							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			Somatic					p.L771L	NM_173354	NP_775490	WXS	Illumina GAIIx	Phase_I	P57059	SIK1_HUMAN			13	2438	-			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	1	0	9	26				
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																																						uc003prh.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		Homo sapiens absent in melanoma 1 (AIM1), mRNA.							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		Somatic				AIM1_uc003pri.3_Missense_Mutation_p.S139I	p.S1335I	NM_001624	NP_001615	WXS	Illumina GAIIx	Phase_I	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)	10	4916	+	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	0	0	0	1	0	23	97				
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	UGT1A1_ENST00000360418.3_Missense_Mutation_p.F256L|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.F256L|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_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																																						uc002vvb.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		Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1), mRNA.	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	54658				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		Somatic				UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron|UGT1A1_uc002vva.3_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.F256L	p.F256L	NM_000463	NP_000454	WXS	Illumina GAIIx	Phase_I	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)	0	781	+		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	1	0	5	184				
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_ENST00000415149.2_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			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																																						uc010hpr.3																			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		Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.							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		Somatic				BBX_uc003dwk.4_Missense_Mutation_p.E50K|BBX_uc003dwl.4_Missense_Mutation_p.E50K|BBX_uc010hps.1_Missense_Mutation_p.E71K|BBX_uc003dwm.4_Missense_Mutation_p.E50K	p.E50K	NM_001142568	NP_001136040	WXS	Illumina GAIIx	Phase_I	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		3	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	1	0	6	33				
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)	uc003vwc.4	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	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	1	0	34	55				
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	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E1069K|RP11-1049A21.2_ENST00000547942.1_RNA	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																																						uc001sgc.4																			0		p.R1118L(1)		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		Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.							170.0	144.0	153.0					12																	54936440		2203	4300	6503	SO:0001583	missense	3071				B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|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 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 T cell proliferation|positive regulation of actin filament polymerization|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|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase 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		Somatic				NCKAP1L_uc010sox.2_Missense_Mutation_p.E661K|NCKAP1L_uc010soy.2_Missense_Mutation_p.E1069K	p.E1119K	NM_005337	NP_005328	WXS	Illumina GAIIx	Phase_I	P55160	NCKPL_HUMAN			30	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	1	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																																						uc001tug.3																			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		Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.							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|RNA binding|nucleotidyltransferase activity	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			Somatic					p.R493R	NM_006187	NP_006178	WXS	Illumina GAIIx	Phase_I	Q9Y6K5	OAS3_HUMAN			6	1566	+			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	1	0	23	95				
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	HSPA8_ENST00000534624.1_Missense_Mutation_p.A54T|HSPA8_ENST00000526110.1_Missense_Mutation_p.A54T|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534319.1_5'Flank|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.A54T|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.A54T|HSPA8_ENST00000533540.1_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)	uc001pyo.3																			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		Homo sapiens heat shock 70kDa protein 8 (HSPA8), transcript variant 1, mRNA.							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		Somatic				HSPA8_uc009zbc.3_5'Flank|HSPA8_uc001pyp.3_Missense_Mutation_p.A54T|HSPA8_uc010rzu.2_Missense_Mutation_p.A54T|HSPA8_uc009zbd.2_Missense_Mutation_p.A54T|HSPA8_uc010rzv.1_Missense_Mutation_p.A54T	p.A54T	NM_006597	NP_006588	WXS	Illumina GAIIx	Phase_I	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	295	-		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	1	0	9	64				
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																																						uc010ezl.3																			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		Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.							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		Somatic				FAM179A_uc010ymm.2_Missense_Mutation_p.C223S	p.C223S	NM_199280	NP_954974	WXS	Illumina GAIIx	Phase_I	Q6ZUX3	F179A_HUMAN			5	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	1	0	4	4				
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_ENST00000375695.2_Missense_Mutation_p.A744T|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.A688T|MAGED1_ENST00000326587.7_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)																												uc004dpn.3																			0				breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(2230-2232)Gct>Act		Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.							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)	Somatic				MAGED1_uc004dpm.3_Missense_Mutation_p.A688T|MAGED1_uc004dpo.3_Missense_Mutation_p.A688T	p.A744T	NM_001005333	NP_001005333	WXS	Illumina GAIIx	Phase_I	Q9Y5V3	MAGD1_HUMAN			12	2420	+	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	1	0	17	5				
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_ENST00000481124.1_Intron|TSPAN14_ENST00000372164.3_Missense_Mutation_p.D43G|TSPAN14_ENST00000372156.1_Missense_Mutation_p.D60G|TSPAN14_ENST00000372158.1_Missense_Mutation_p.D60G|TSPAN14_ENST00000341863.6_Missense_Mutation_p.D60G	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																																						uc001kcj.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(178-180)gAc>gGc		Homo sapiens tetraspanin 14 (TSPAN14), transcript variant 1, mRNA.							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		Somatic				TSPAN14_uc009xss.3_Intron|TSPAN14_uc001kci.4_Missense_Mutation_p.D43G	p.D60G	NM_030927	NP_112189	WXS	Illumina GAIIx	Phase_I	Q8NG11	TSN14_HUMAN	Colorectal(32;0.229)		3	286	+			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	1	0	3	40				
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_ENST00000466940.1_Missense_Mutation_p.K191N|CAMKV_ENST00000467248.1_Missense_Mutation_p.K159N|CAMKV_ENST00000463537.1_Missense_Mutation_p.K234N|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000488336.1_Missense_Mutation_p.K234N|CAMKV_ENST00000296471.7_Missense_Mutation_p.K206N|CAMKV_ENST00000498324.1_5'Flank			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																																						uc003cxt.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7						c.(700-702)aaG>aaT		Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.							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		Somatic				CAMKV_uc011bcy.1_Missense_Mutation_p.K159N|CAMKV_uc003cxv.1_Missense_Mutation_p.K206N|CAMKV_uc003cxw.1_Missense_Mutation_p.K66N|CAMKV_uc003cxx.1_Missense_Mutation_p.K66N|CAMKV_uc003cxu.2_Missense_Mutation_p.K234N|CAMKV_uc011bcz.1_Missense_Mutation_p.K197N|CAMKV_uc011bda.1_Missense_Mutation_p.K191N|CAMKV_uc011bdb.1_Non-coding_Transcript	p.K234N	NM_024046	NP_076951	WXS	Illumina GAIIx	Phase_I	Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	7	895	-			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	0	0	0	1	0	21	142				
CROCCP5	100421114	broad.mit.edu	37	1	21761839	21761841	+	IGR	DEL	GGA	GGA	-	rs570051903	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.chr1:21761839_21761841delGGA								RP11-293F5.1 (17854 upstream) : NBPF3 (4779 downstream)																							AGCAGAATCTGGAGAAGGATCAG	0.596														16	0.00319489	0.0	0.0	5008	,	,		20227	0.0		0.0	False		,,,				2504	0.0164					uc001beq.1																			0													Homo sapiens cDNA clone IMAGE:40133403, partial cds.																																				SO:0001628	intergenic_variant	0							g.chr1:21761839_21761841delGGA																													1.37:g.21761839_21761841delGGA			Somatic								WXS	Illumina GAIIx	Phase_I					0		+									RNA	DEL		37	c.7_9delGGA																																																																																				0	0.596									10	12						10	12	---	---	---	---
