#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ANGEL1	23357	broad.mit.edu	37	14	77275462	77275462	+	Missense_Mutation	SNP	T	T	C			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr14:77275462T>C	ENST00000251089.2	-	2	701	c.589A>G	c.(589-591)Atc>Gtc	p.I197V	ANGEL1_ENST00000554941.1_5'Flank	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	197										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		AAGGGCCAGATGGAAGCCTCT	0.612																																						ENST00000251089.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22						c.(589-591)Atc>Gtc		angel homolog 1 (Drosophila)							42.0	40.0	40.0					14																	77275462		2203	4300	6503	SO:0001583	missense	23357							g.chr14:77275462T>C	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.589A>G	14.37:g.77275462T>C	ENSP00000251089:p.Ile197Val						p.I197V	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	2	701	-			197					B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	ENST00000251089.2	37	c.589A>G	CCDS9852.1	.	.	.	.	.	.	.	.	.	.	T	3.428	-0.116698	0.06838	.	.	ENSG00000013523	ENST00000251089	T	0.21543	2.0	5.6	-3.43	0.04810	.	1.450350	0.03704	N	0.249089	T	0.08714	0.0216	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32824	-0.9892	10	0.11485	T	0.65	0.0062	9.1402	0.36899	0.0:0.5581:0.1255:0.3164	.	197	Q9UNK9	ANGE1_HUMAN	V	197	ENSP00000251089:I197V	ENSP00000251089:I197V	I	-	1	0	ANGEL1	76345215	0.017000	0.18338	0.381000	0.26106	0.907000	0.53573	0.106000	0.15354	-0.707000	0.05022	-1.148000	0.01847	ATC		0.612	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		5	23	0	0	0	1	0	5	23				
CD82	3732	broad.mit.edu	37	11	44640634	44640634	+	Silent	SNP	G	G	A			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr11:44640634G>A	ENST00000227155.4	+	10	1010	c.762G>A	c.(760-762)cgG>cgA	p.R254R	CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Silent_p.R229R	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	254						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				large_intestine(1)|ovary(1)	2						GCTTGTGCCGGCACGTCCATT	0.652																																						ENST00000227155.4																			0				large_intestine(1)|ovary(1)	2						c.(760-762)cgG>cgA		CD82 molecule							148.0	124.0	132.0					11																	44640634		2203	4299	6502	SO:0001819	synonymous_variant	3732					integral to plasma membrane	protein binding	g.chr11:44640634G>A	U20770	CCDS7909.1, CCDS31469.1	11p11.2	2013-02-14	2006-03-28	2005-03-03		ENSG00000085117		"""CD molecules"", ""Tetraspanins"""	6210	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 6"", ""R2 leukocyte antigen"""	600623	"""kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))"", ""CD82 antigen"""	ST6, KAI1			Standard	XM_006718222		Approved	R2, IA4, TSPAN27	uc001myc.3	P27701		ENST00000227155.4:c.762G>A	11.37:g.44640634G>A						CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Silent_p.R229R	p.R254R	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN			10	1010	+			254					D3DQN6|E9PC70|Q7Z2D4|Q7Z5N2	Silent	SNP	ENST00000227155.4	37	c.762G>A	CCDS7909.1																																																																																				0.652	CD82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389886.1			4	38	0	0	0	1	0	4	38				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	3	25	0	0	0	1	0	3	25				
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr2:97869931A>T	ENST00000461153.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T998S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289																																						ENST00000420699.2																			13	Substitution - Missense(13)	p.T998S(13)	kidney(6)|endometrium(4)|prostate(3)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2992-2994)Aca>Tca		ankyrin repeat domain 36							37.0	44.0	42.0					2																	97869931		692	1587	2279	SO:0001583	missense	375248							g.chr2:97869931A>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2992A>T	2.37:g.97869931A>T	ENSP00000419530:p.Thr998Ser					ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S	p.T998S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			50	3236	+			998					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2992A>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.819	-0.038219	0.07497	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.32753	1.44;1.44	0.63	-0.824	0.10812	.	.	.	.	.	T	0.14056	0.0340	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.28849	0.095	T	0.12837	-1.0532	8	0.38643	T	0.18	.	.	.	.	.	998	A6QL64	AN36A_HUMAN	S	998;998;360	ENSP00000419530:T998S;ENSP00000391950:T998S	ENSP00000391950:T998S	T	+	1	0	ANKRD36	97233658	0.019000	0.18553	0.011000	0.14972	0.022000	0.10575	-0.850000	0.04317	-0.324000	0.08589	0.147000	0.16070	ACA		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			3	21	0	0	0	1	0	3	21				
ARHGEF17	9828	broad.mit.edu	37	11	73021126	73021126	+	Silent	SNP	C	C	T	rs145219831	byFrequency	TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr11:73021126C>T	ENST00000263674.3	+	1	1793	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	481					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGCGCTCAGACCTTTCAGAGC	0.577																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(1441-1443)gaC>gaT		Rho guanine nucleotide exchange factor (GEF) 17		C		1,4399	2.1+/-5.4	0,1,2199	64.0	71.0	68.0		1443	0.5	1.0	11	dbSNP_134	68	5,8581	4.3+/-15.6	0,5,4288	yes	coding-synonymous	ARHGEF17	NM_014786.3		0,6,6487	TT,TC,CC		0.0582,0.0227,0.0462		481/2064	73021126	6,12980	2200	4293	6493	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73021126C>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1443C>T	11.37:g.73021126C>T							p.D481D	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	1793	+			481					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.1443C>T	CCDS8221.1																																																																																				0.577	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		4	22	0	0	0	1	0	4	22				
SOCS5	9655	broad.mit.edu	37	2	46986916	46986916	+	Missense_Mutation	SNP	C	C	A			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr2:46986916C>A	ENST00000306503.5	+	2	1419	c.1247C>A	c.(1246-1248)tCt>tAt	p.S416Y	SOCS5_ENST00000394861.2_Missense_Mutation_p.S416Y	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	416	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TACCTCTTCTCTGTGAGCTTC	0.527																																						ENST00000306503.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22						c.(1246-1248)tCt>tAt		suppressor of cytokine signaling 5							82.0	80.0	80.0					2																	46986916		2203	4300	6503	SO:0001583	missense	9655				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46986916C>A	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1247C>A	2.37:g.46986916C>A	ENSP00000305133:p.Ser416Tyr					SOCS5_ENST00000394861.2_Missense_Mutation_p.S416Y	p.S416Y	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	1419	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	416			SH2.		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.1247C>A	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078332	0.76528	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	D;D	0.89617	-2.54;-2.54	5.43	5.43	0.79202	SH2 motif (4);	0.051815	0.85682	D	0.000000	D	0.96300	0.8793	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96928	0.9679	10	0.87932	D	0	-20.6106	19.0206	0.92912	0.0:1.0:0.0:0.0	.	416	O75159	SOCS5_HUMAN	Y	416	ENSP00000305133:S416Y;ENSP00000378330:S416Y	ENSP00000305133:S416Y	S	+	2	0	SOCS5	46840420	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.824000	0.97209	0.655000	0.94253	TCT		0.527	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			24	67	1	0	1.55469e-16	1	1.69603e-16	24	67				
PML	5371	broad.mit.edu	37	15	74336715	74336715	+	Missense_Mutation	SNP	C	C	G			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr15:74336715C>G	ENST00000268058.3	+	9	2111	c.2015C>G	c.(2014-2016)cCt>cGt	p.P672R	PML_ENST00000565898.1_Missense_Mutation_p.P624R	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	672					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						ATGCGCCGCCCTATCTTGGCC	0.602			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000565898.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(1870-1872)cCt>cGt		promyelocytic leukemia							55.0	56.0	55.0					15																	74336715		2198	4297	6495	SO:0001583	missense	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74336715C>G	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.2015C>G	15.37:g.74336715C>G	ENSP00000268058:p.Pro672Arg					PML_ENST00000268058.3_Missense_Mutation_p.P672R	p.P624R			P29590	PML_HUMAN			8	1955	+			672					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.1871C>G	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467297	0.63625	.	.	ENSG00000140464	ENST00000268058;ENST00000417341;ENST00000418568	T	0.67171	-0.25	5.18	5.18	0.71444	.	0.000000	0.49916	D	0.000127	T	0.74839	0.3769	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.76958	-0.2766	10	0.87932	D	0	-39.3202	15.543	0.76070	0.0:1.0:0.0:0.0	.	672;624	P29590;P29590-11	PML_HUMAN;.	R	672;233;655	ENSP00000268058:P672R	ENSP00000268058:P672R	P	+	2	0	PML	72123768	0.839000	0.29477	0.891000	0.34965	0.908000	0.53690	2.913000	0.48790	2.685000	0.91497	0.563000	0.77884	CCT		0.602	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		23	53	0	0	0	1	0	23	53				
HP	3240	broad.mit.edu	37	16	72094218	72094218	+	Missense_Mutation	SNP	T	T	C	rs563829767		TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr16:72094218T>C	ENST00000355906.5	+	7	708	c.650T>C	c.(649-651)aTt>aCt	p.I217T	HPR_ENST00000561690.1_5'Flank|HP_ENST00000562526.1_Intron|HP_ENST00000570083.1_Missense_Mutation_p.I158T|HP_ENST00000565574.1_Missense_Mutation_p.I158T|HPR_ENST00000356967.5_Intron|HP_ENST00000398131.2_Missense_Mutation_p.I158T|HPR_ENST00000540303.2_5'Flank|HP_ENST00000357763.4_Missense_Mutation_p.I253T	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	217	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		GCGAAAGACATTGCCCCTACT	0.453													T|||	1	0.000199681	0.0	0.0	5008	,	,		22365	0.0		0.0	False		,,,				2504	0.001					ENST00000355906.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7						c.(649-651)aTt>aCt		haptoglobin							65.0	63.0	64.0					16																	72094218		1900	4120	6020	SO:0001583	missense	3240				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72094218T>C		CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.650T>C	16.37:g.72094218T>C	ENSP00000348170:p.Ile217Thr					HPR_ENST00000356967.5_Intron|HP_ENST00000570083.1_Missense_Mutation_p.I158T|HP_ENST00000562526.1_Intron|HP_ENST00000398131.2_Missense_Mutation_p.I158T|HP_ENST00000565574.1_Missense_Mutation_p.I158T	p.I217T	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)	7	708	+		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)	217			Peptidase S1.		B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Missense_Mutation	SNP	ENST00000355906.5	37	c.650T>C	CCDS45524.1	.	.	.	.	.	.	.	.	.	.	T	9.531	1.110743	0.20714	.	.	ENSG00000257017	ENST00000355906;ENST00000398131;ENST00000405951;ENST00000357763	D;D	0.87966	-2.32;-2.32	5.21	5.21	0.72293	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.208186	0.40908	D	0.000986	D	0.87394	0.6166	L	0.28740	0.885	0.80722	D	1	D;D;B;P	0.71674	0.992;0.998;0.4;0.714	D;D;B;B	0.68483	0.912;0.958;0.226;0.338	D	0.85794	0.1369	10	0.35671	T	0.21	.	9.4481	0.38710	0.1583:0.0:0.0:0.8417	.	39;92;158;217	Q6PEJ8;Q6NSB4;Q0VAC5;P00738	.;.;.;HPT_HUMAN	T	217;158;92;193	ENSP00000348170:I217T;ENSP00000381199:I158T	ENSP00000348170:I217T	I	+	2	0	HP	70651719	0.996000	0.38824	0.998000	0.56505	0.921000	0.55340	2.985000	0.49362	2.188000	0.69820	0.482000	0.46254	ATT		0.453	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421680.1	NM_005143		7	39	0	0	0	1	0	7	39				
ANGEL1	23357	broad.mit.edu	37	14	77275462	77275462	+	Missense_Mutation	SNP	T	T	C			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-11A-11D-A35I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	89317873-c294-4d2a-8c09-7010dc095a7d	g.chr14:77275462T>C	ENST00000251089.2	-	2	701	c.589A>G	c.(589-591)Atc>Gtc	p.I197V	ANGEL1_ENST00000554941.1_5'Flank	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	197										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		AAGGGCCAGATGGAAGCCTCT	0.612																																						ENST00000251089.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22						c.(589-591)Atc>Gtc		angel homolog 1 (Drosophila)							42.0	40.0	40.0					14																	77275462		2203	4300	6503	SO:0001583	missense	23357							g.chr14:77275462T>C	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.589A>G	14.37:g.77275462T>C	ENSP00000251089:p.Ile197Val						p.I197V	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	2	701	-			197					B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	ENST00000251089.2	37	c.589A>G	CCDS9852.1	.	.	.	.	.	.	.	.	.	.	T	3.428	-0.116698	0.06838	.	.	ENSG00000013523	ENST00000251089	T	0.21543	2.0	5.6	-3.43	0.04810	.	1.450350	0.03704	N	0.249089	T	0.08714	0.0216	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32824	-0.9892	10	0.11485	T	0.65	0.0062	9.1402	0.36899	0.0:0.5581:0.1255:0.3164	.	197	Q9UNK9	ANGE1_HUMAN	V	197	ENSP00000251089:I197V	ENSP00000251089:I197V	I	-	1	0	ANGEL1	76345215	0.017000	0.18338	0.381000	0.26106	0.907000	0.53573	0.106000	0.15354	-0.707000	0.05022	-1.148000	0.01847	ATC		0.612	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		5	23	0	0	0	1	0	5	23				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-11A-11D-A35I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	89317873-c294-4d2a-8c09-7010dc095a7d	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	284802							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	76	0	0	0	1	0	5	76				
CD82	3732	broad.mit.edu	37	11	44640634	44640634	+	Silent	SNP	G	G	A			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-11A-11D-A35I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	89317873-c294-4d2a-8c09-7010dc095a7d	g.chr11:44640634G>A	ENST00000227155.4	+	10	1010	c.762G>A	c.(760-762)cgG>cgA	p.R254R	CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Silent_p.R229R	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	254						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				large_intestine(1)|ovary(1)	2						GCTTGTGCCGGCACGTCCATT	0.652																																						ENST00000227155.4																			0				large_intestine(1)|ovary(1)	2						c.(760-762)cgG>cgA		CD82 molecule							148.0	124.0	132.0					11																	44640634		2203	4299	6502	SO:0001819	synonymous_variant	3732					integral to plasma membrane	protein binding	g.chr11:44640634G>A	U20770	CCDS7909.1, CCDS31469.1	11p11.2	2013-02-14	2006-03-28	2005-03-03		ENSG00000085117		"""CD molecules"", ""Tetraspanins"""	6210	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 6"", ""R2 leukocyte antigen"""	600623	"""kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))"", ""CD82 antigen"""	ST6, KAI1			Standard	XM_006718222		Approved	R2, IA4, TSPAN27	uc001myc.3	P27701		ENST00000227155.4:c.762G>A	11.37:g.44640634G>A						CD82_ENST00000342935.3_Silent_p.R229R|CD82_ENST00000530931.1_3'UTR	p.R254R	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN			10	1010	+			254					D3DQN6|E9PC70|Q7Z2D4|Q7Z5N2	Silent	SNP	ENST00000227155.4	37	c.762G>A	CCDS7909.1																																																																																				0.652	CD82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389886.1			4	38	0	0	0	1	0	4	38				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-11A-11D-A35I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	89317873-c294-4d2a-8c09-7010dc095a7d	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	3	25	0	0	0	1	0	3	25				
ARHGEF17	9828	broad.mit.edu	37	11	73021126	73021126	+	Silent	SNP	C	C	T	rs145219831	byFrequency	TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-11A-11D-A35I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	89317873-c294-4d2a-8c09-7010dc095a7d	g.chr11:73021126C>T	ENST00000263674.3	+	1	1793	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	481					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGCGCTCAGACCTTTCAGAGC	0.577																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(1441-1443)gaC>gaT		Rho guanine nucleotide exchange factor (GEF) 17		C		1,4399	2.1+/-5.4	0,1,2199	64.0	71.0	68.0		1443	0.5	1.0	11	dbSNP_134	68	5,8581	4.3+/-15.6	0,5,4288	yes	coding-synonymous	ARHGEF17	NM_014786.3		0,6,6487	TT,TC,CC		0.0582,0.0227,0.0462		481/2064	73021126	6,12980	2200	4293	6493	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73021126C>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1443C>T	11.37:g.73021126C>T							p.D481D	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	1793	+			481					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.1443C>T	CCDS8221.1																																																																																				0.577	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		4	22	0	0	0	1	0	4	22				
PML	5371	broad.mit.edu	37	15	74336715	74336715	+	Missense_Mutation	SNP	C	C	G			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-11A-11D-A35I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	89317873-c294-4d2a-8c09-7010dc095a7d	g.chr15:74336715C>G	ENST00000268058.3	+	9	2111	c.2015C>G	c.(2014-2016)cCt>cGt	p.P672R	PML_ENST00000565898.1_Missense_Mutation_p.P624R	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	672					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						ATGCGCCGCCCTATCTTGGCC	0.602			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000565898.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(1870-1872)cCt>cGt		promyelocytic leukemia							55.0	56.0	55.0					15																	74336715		2198	4297	6495	SO:0001583	missense	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74336715C>G	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.2015C>G	15.37:g.74336715C>G	ENSP00000268058:p.Pro672Arg					PML_ENST00000268058.3_Missense_Mutation_p.P672R	p.P624R			P29590	PML_HUMAN			8	1955	+			672					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.1871C>G	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467297	0.63625	.	.	ENSG00000140464	ENST00000268058;ENST00000417341;ENST00000418568	T	0.67171	-0.25	5.18	5.18	0.71444	.	0.000000	0.49916	D	0.000127	T	0.74839	0.3769	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.76958	-0.2766	10	0.87932	D	0	-39.3202	15.543	0.76070	0.0:1.0:0.0:0.0	.	672;624	P29590;P29590-11	PML_HUMAN;.	R	672;233;655	ENSP00000268058:P672R	ENSP00000268058:P672R	P	+	2	0	PML	72123768	0.839000	0.29477	0.891000	0.34965	0.908000	0.53690	2.913000	0.48790	2.685000	0.91497	0.563000	0.77884	CCT		0.602	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		23	53	0	0	0	1	0	23	53				
SOCS5	9655	broad.mit.edu	37	2	46986916	46986916	+	Missense_Mutation	SNP	C	C	A			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-11A-11D-A35I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	89317873-c294-4d2a-8c09-7010dc095a7d	g.chr2:46986916C>A	ENST00000306503.5	+	2	1419	c.1247C>A	c.(1246-1248)tCt>tAt	p.S416Y	SOCS5_ENST00000394861.2_Missense_Mutation_p.S416Y	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	416	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TACCTCTTCTCTGTGAGCTTC	0.527																																						ENST00000306503.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22						c.(1246-1248)tCt>tAt		suppressor of cytokine signaling 5							82.0	80.0	80.0					2																	46986916		2203	4300	6503	SO:0001583	missense	9655				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46986916C>A	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1247C>A	2.37:g.46986916C>A	ENSP00000305133:p.Ser416Tyr					SOCS5_ENST00000394861.2_Missense_Mutation_p.S416Y	p.S416Y	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	1419	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	416			SH2.		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.1247C>A	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078332	0.76528	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	D;D	0.89617	-2.54;-2.54	5.43	5.43	0.79202	SH2 motif (4);	0.051815	0.85682	D	0.000000	D	0.96300	0.8793	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96928	0.9679	10	0.87932	D	0	-20.6106	19.0206	0.92912	0.0:1.0:0.0:0.0	.	416	O75159	SOCS5_HUMAN	Y	416	ENSP00000305133:S416Y;ENSP00000378330:S416Y	ENSP00000305133:S416Y	S	+	2	0	SOCS5	46840420	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.824000	0.97209	0.655000	0.94253	TCT		0.527	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			24	67	1	0	1.55469e-16	1	1.65186e-16	24	67				
HP	3240	broad.mit.edu	37	16	72094218	72094218	+	Missense_Mutation	SNP	T	T	C	rs563829767		TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-11A-11D-A35I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	89317873-c294-4d2a-8c09-7010dc095a7d	g.chr16:72094218T>C	ENST00000355906.5	+	7	708	c.650T>C	c.(649-651)aTt>aCt	p.I217T	HPR_ENST00000561690.1_5'Flank|HP_ENST00000562526.1_Intron|HP_ENST00000570083.1_Missense_Mutation_p.I158T|HP_ENST00000565574.1_Missense_Mutation_p.I158T|HPR_ENST00000356967.5_Intron|HP_ENST00000398131.2_Missense_Mutation_p.I158T|HPR_ENST00000540303.2_5'Flank|HP_ENST00000357763.4_Missense_Mutation_p.I253T	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	217	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		GCGAAAGACATTGCCCCTACT	0.453													T|||	1	0.000199681	0.0	0.0	5008	,	,		22365	0.0		0.0	False		,,,				2504	0.001					ENST00000355906.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7						c.(649-651)aTt>aCt		haptoglobin							65.0	63.0	64.0					16																	72094218		1900	4120	6020	SO:0001583	missense	3240				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72094218T>C		CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.650T>C	16.37:g.72094218T>C	ENSP00000348170:p.Ile217Thr					HP_ENST00000565574.1_Missense_Mutation_p.I158T|HP_ENST00000398131.2_Missense_Mutation_p.I158T|HP_ENST00000562526.1_Intron|HP_ENST00000570083.1_Missense_Mutation_p.I158T|HPR_ENST00000356967.5_Intron	p.I217T	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)	7	708	+		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)	217			Peptidase S1.		B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Missense_Mutation	SNP	ENST00000355906.5	37	c.650T>C	CCDS45524.1	.	.	.	.	.	.	.	.	.	.	T	9.531	1.110743	0.20714	.	.	ENSG00000257017	ENST00000355906;ENST00000398131;ENST00000405951;ENST00000357763	D;D	0.87966	-2.32;-2.32	5.21	5.21	0.72293	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.208186	0.40908	D	0.000986	D	0.87394	0.6166	L	0.28740	0.885	0.80722	D	1	D;D;B;P	0.71674	0.992;0.998;0.4;0.714	D;D;B;B	0.68483	0.912;0.958;0.226;0.338	D	0.85794	0.1369	10	0.35671	T	0.21	.	9.4481	0.38710	0.1583:0.0:0.0:0.8417	.	39;92;158;217	Q6PEJ8;Q6NSB4;Q0VAC5;P00738	.;.;.;HPT_HUMAN	T	217;158;92;193	ENSP00000348170:I217T;ENSP00000381199:I158T	ENSP00000348170:I217T	I	+	2	0	HP	70651719	0.996000	0.38824	0.998000	0.56505	0.921000	0.55340	2.985000	0.49362	2.188000	0.69820	0.482000	0.46254	ATT		0.453	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421680.1	NM_005143		7	39	0	0	0	1	0	7	39				
C1orf106	55765	broad.mit.edu	37	1	200881013	200881013	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr1:200881013delG	ENST00000367342.4	+	9	1847	c.1647delG	c.(1645-1647)gagfs	p.E549fs	C1orf106_ENST00000413687.2_Frame_Shift_Del_p.E464fs	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	549										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						ACGAGGAGGAGGGCACTCCCC	0.741																																						ENST00000367342.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1645-1647)gafs		chromosome 1 open reading frame 106							4.0	5.0	5.0					1																	200881013		1936	3864	5800	SO:0001589	frameshift_variant	55765							g.chr1:200881013delG	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1647delG	1.37:g.200881013delG	ENSP00000356311:p.Glu549fs					C1orf106_ENST00000413687.2_Frame_Shift_Del_p.E464fs	p.E549fs	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN			9	1847	+			549					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Frame_Shift_Del	DEL	ENST00000367342.4	37	c.1647delG																																																																																					0.741	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		2	4						2	4	---	---	---	---
ANK1	286	broad.mit.edu	37	8	41582014	41582014	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr8:41582014delA	ENST00000347528.4	-	7	754	c.671delT	c.(670-672)ttgfs	p.L226fs	ANK1_ENST00000289734.7_Frame_Shift_Del_p.L226fs|ANK1_ENST00000265709.8_Frame_Shift_Del_p.L259fs|ANK1_ENST00000379758.2_Frame_Shift_Del_p.L226fs|ANK1_ENST00000352337.4_Frame_Shift_Del_p.L226fs|ANK1_ENST00000396942.1_Frame_Shift_Del_p.L226fs|ANK1_ENST00000396945.1_Frame_Shift_Del_p.L226fs	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	226	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTTGAGGAGCAACTGGGCCAC	0.587																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(670-672)tgfs		ankyrin 1, erythrocytic							36.0	33.0	34.0					8																	41582014		2203	4300	6503	SO:0001589	frameshift_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41582014delA	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.671delT	8.37:g.41582014delA	ENSP00000339620:p.Leu226fs					ANK1_ENST00000289734.7_Frame_Shift_Del_p.L226fs|ANK1_ENST00000347528.4_Frame_Shift_Del_p.L226fs|ANK1_ENST00000352337.4_Frame_Shift_Del_p.L226fs|ANK1_ENST00000379758.2_Frame_Shift_Del_p.L226fs|ANK1_ENST00000265709.8_Frame_Shift_Del_p.L259fs|ANK1_ENST00000396945.1_Frame_Shift_Del_p.L226fs	p.L226fs			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		7	754	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	226			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Frame_Shift_Del	DEL	ENST00000347528.4	37	c.671delT	CCDS6119.1																																																																																				0.587	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		2	4						2	4	---	---	---	---
MAP2K1	5604	broad.mit.edu	37	15	66727443	66727457	+	In_Frame_Del	DEL	TCTTACCCAGAAGCA	TCTTACCCAGAAGCA	-	rs397516790		TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr15:66727443_66727457delTCTTACCCAGAAGCA	ENST00000307102.5	+	2	690_704	c.159_173delTCTTACCCAGAAGCA	c.(157-174)tttcttacccagaagcag>ttg	p.53_58FLTQKQ>L		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	53			F -> S (in CFC3). {ECO:0000269|PubMed:16439621}.		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)	p.K57N(3)|p.K57T(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	TTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGA	0.553																																						ENST00000307102.5																			4	Substitution - Missense(4)	p.K57N(3)|p.K57T(1)	lung(2)|autonomic_ganglia(1)|prostate(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20	GRCh37	CM076271	MAP2K1	M		c.(157-174)ttg>tt		mitogen-activated protein kinase kinase 1																																				SO:0001651	inframe_deletion	5604				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:66727443_66727457delTCTTACCCAGAAGCA	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.159_173delTCTTACCCAGAAGCA	15.37:g.66727443_66727457delTCTTACCCAGAAGCA	ENSP00000302486:p.Phe53_Gln58delinsLeu						p.FLTQKQ53del	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN			2	690_704	+			53		F -> S (in CFC syndrome).				In_Frame_Del	DEL	ENST00000307102.5	37	c.159_173delTCTTACCCAGAAGCA	CCDS10216.1																																																																																				0.553	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4			15	96						15	96	---	---	---	---
CCDC105	126402	broad.mit.edu	37	19	15121690	15121691	+	Frame_Shift_Del	DEL	CC	CC	-	rs577782567	byFrequency	TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr19:15121690_15121691delCC	ENST00000292574.3	+	1	135_136	c.53_54delCC	c.(52-54)gccfs	p.A18fs	SLC1A6_ENST00000430939.2_5'Flank	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	18						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CGCGTTGGGGCCCCAGCATGGC	0.698														4	0.000798722	0.0	0.0043	5008	,	,		16937	0.0		0.001	False		,,,				2504	0.0					ENST00000292574.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(52-54)gfs		coiled-coil domain containing 105				13,4129		6,1,2064						2.8	0.0			9	28,8062		8,12,4025	no	frameshift	CCDC105	NM_173482.2		14,13,6089	A1A1,A1R,RR		0.3461,0.3139,0.3352				41,12191				SO:0001589	frameshift_variant	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15121690_15121691delCC	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.53_54delCC	19.37:g.15121692_15121693delCC	ENSP00000292574:p.Ala18fs						p.A18fs	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN			1	135_136	+			18					Q8N7T5|Q8NDL5	Frame_Shift_Del	DEL	ENST00000292574.3	37	c.53_54delCC	CCDS12322.1																																																																																				0.698	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		6	4						6	4	---	---	---	---
NCR2	9436	broad.mit.edu	37	6	41303645	41303647	+	In_Frame_Del	DEL	CTG	CTG	-	rs375455161		TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-11A-11D-A35I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	89317873-c294-4d2a-8c09-7010dc095a7d	g.chr6:41303645_41303647delCTG	ENST00000373089.5	+	1	119_121	c.31_33delCTG	c.(31-33)ctgdel	p.L15del	NCR2_ENST00000373083.4_In_Frame_Del_p.L15del|NCR2_ENST00000373086.3_In_Frame_Del_p.L15del	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	15					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCCACTGCTACTGCTGCTGCTGC	0.635																																						ENST00000373083.4																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14						c.(31-33)del		natural cytotoxicity triggering receptor 2			,,	48,4200		1,46,2077					,,	-2.6	0.0			40	118,8096		0,118,3989	no	coding,coding,coding	NCR2	NM_004828.3,NM_001199510.1,NM_001199509.1	,,	1,164,6066	A1A1,A1R,RR		1.4366,1.1299,1.332	,,	,,		166,12296				SO:0001651	inframe_deletion	9436				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr6:41303645_41303647delCTG	AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	6732	protein-coding gene	gene with protein product		604531	"""lymphocyte antigen 95 (activating NK-receptor; NK-p44)"""	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.31_33delCTG	6.37:g.41303654_41303656delCTG	ENSP00000362181:p.Leu15del					NCR2_ENST00000373086.3_In_Frame_Del_p.L15del|NCR2_ENST00000373089.5_In_Frame_Del_p.L15del	p.L15del	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN			1	253_255	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		15					Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	In_Frame_Del	DEL	ENST00000373089.5	37	c.31_33delCTG	CCDS4855.1																																																																																				0.635	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040511.3			2	4						2	4	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1586653	1586654	+	In_Frame_Ins	INS	-	-	GCC	rs112463195|rs374586451|rs200315697		TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-11A-11D-A35I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	89317873-c294-4d2a-8c09-7010dc095a7d	g.chr7:1586653_1586654insGCC	ENST00000297477.5	-	9	1492_1493	c.1176_1177insGGC	c.(1174-1179)ggctcc>ggcGGCtcc	p.392_393insG	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	392					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CTCCCGCCGGAGCCGCCGCTGG	0.708																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1174-1179)ggccgg>ggGGCccgg		transmembrane protein 184A																																				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586653_1586654insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1174_1176dupGGC	7.37:g.1586657_1586659dupGCC	ENSP00000297477:p.Gly394_Gly395dup						p.392_393GR>GAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1492_1493	-		Ovarian(82;0.0253)	392					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1176_1177insGGC	CCDS43537.1																																																																																				0.708	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		6	13						6	13	---	---	---	---
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707|rs139315731		TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-11A-11D-A35I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	89317873-c294-4d2a-8c09-7010dc095a7d	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(148-150)ggc>GGCGGCGGCggc	p.50_50G>GGGG	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	53	Gly-rich.							p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688																																						ENST00000319264.3																			3	Insertion - In frame(2)|Deletion - In frame(1)	p.G49_G50insGGG(2)|p.G50_G52delGGG(1)	large_intestine(1)|prostate(1)|central_nervous_system(1)								c.(145-150)gggcgg>ggGGCGGCGGCgcgg		leucine rich adaptor protein 1-like																																				SO:0001652	inframe_insertion	286343							g.chr9:12775861_12775862insGGCGGCGGC	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.157_165dupGGCGGCGGC	9.37:g.12775862_12775870dupGGCGGCGGC	ENSP00000321026:p.GlyGlyGly53dup					LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	p.49_50GR>GAAAR	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN			1	842_843	+			49		Missing.	Gly-rich.		Q5VZX7|Q8N923|Q8NCG2	In_Frame_Ins	INS	ENST00000319264.3	37	c.147_148insGGCGGCGGC	CCDS6473.1																																																																																				0.688	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403		2	4						2	4	---	---	---	---
FAM74A7	100996582	broad.mit.edu	37	9	40715923	40715924	+	lincRNA	DEL	AA	AA	-	rs374953827|rs62565543	byFrequency	TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-11A-11D-A35I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	89317873-c294-4d2a-8c09-7010dc095a7d	g.chr9:40715923_40715924delAA	ENST00000432614.1	-	0	0				FAM74A3_ENST00000604146.1_lincRNA																							GAAGACGTGGAAAGAGCTCAGA	0.569																																						ENST00000604146.1																			0				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10																																														728495							g.chr9:40715923_40715924delAA																													9.37:g.40715923_40715924delAA								NR_026801.1					GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	0	262_263	+									RNA	DEL	ENST00000432614.1	37																																																																																						0.569	RP11-395E19.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143688.1			3	5						3	5	---	---	---	---
MAP2K1	5604	broad.mit.edu	37	15	66727443	66727457	+	In_Frame_Del	DEL	TCTTACCCAGAAGCA	TCTTACCCAGAAGCA	-	rs397516790		TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-11A-11D-A35I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	89317873-c294-4d2a-8c09-7010dc095a7d	g.chr15:66727443_66727457delTCTTACCCAGAAGCA	ENST00000307102.5	+	2	690_704	c.159_173delTCTTACCCAGAAGCA	c.(157-174)tttcttacccagaagcag>ttg	p.53_58FLTQKQ>L		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	53			F -> S (in CFC3). {ECO:0000269|PubMed:16439621}.		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)	p.K57N(3)|p.K57T(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	TTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGA	0.553																																						ENST00000307102.5																			4	Substitution - Missense(4)	p.K57N(3)|p.K57T(1)	lung(2)|autonomic_ganglia(1)|prostate(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20	GRCh37	CM076271	MAP2K1	M		c.(157-174)ttg>tt		mitogen-activated protein kinase kinase 1																																				SO:0001651	inframe_deletion	5604				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:66727443_66727457delTCTTACCCAGAAGCA	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.159_173delTCTTACCCAGAAGCA	15.37:g.66727443_66727457delTCTTACCCAGAAGCA	ENSP00000302486:p.Phe53_Gln58delinsLeu						p.FLTQKQ53del	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN			2	690_704	+			53		F -> S (in CFC syndrome).				In_Frame_Del	DEL	ENST00000307102.5	37	c.159_173delTCTTACCCAGAAGCA	CCDS10216.1																																																																																				0.553	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4			15	96						15	96	---	---	---	---
