#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
HSP90B3P	343477	broad.mit.edu	37	1	92108899	92108899	+	IGR	SNP	C	C	T	rs2493202	byFrequency	TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr1:92108899C>T								CDC7 (117578 upstream) : TGFBR3 (37002 downstream)																							TCTCCTCCATCTGTTGAACGA	0.433													T|||	4112	0.821086	0.6959	0.866	5008	,	,		21823	0.9643		0.7157	False		,,,				2504	0.9192					uc010osx.2																			0											c.(925-927)tCt>tTt		Homo sapiens heat shock protein 90kDa beta (Grp94), member 3, pseudogene (HSP90B3P), non-coding RNA.																																				SO:0001628	intergenic_variant	343477							g.chr1:92108899C>T																													1.37:g.92108899C>T							p.S309F							2	926	+									Missense_Mutation	SNP		37	c.926C>T																																																																																				0	0.433								
ASPM	259266	broad.mit.edu	37	1	197071366	197071366	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr1:197071366T>G	ENST00000367409.4	-	18	7271	c.7015A>C	c.(7015-7017)Act>Cct	p.T2339P	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2339	IQ 22. {ECO:0000255|PROSITE- ProRule:PRU00116}.|IQ 23. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGGATGAAAGTAGCAGCCCTG	0.408																																						uc001gtu.3																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(7015-7017)Act>Cct		Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.							144.0	135.0	138.0					1																	197071366		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197071366T>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7015A>C	1.37:g.197071366T>G	ENSP00000356379:p.Thr2339Pro					ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Missense_Mutation_p.T187P	p.T2339P	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			17	7272	-			2339			IQ 22.|IQ 23.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.7015A>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	t	14.43	2.534355	0.45073	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.73152	-0.72	4.35	-1.8	0.07907	.	0.327889	0.24755	N	0.035869	D	0.84520	0.5490	M	0.93328	3.405	0.09310	N	1	D;D	0.76494	0.996;0.999	D;D	0.81914	0.937;0.995	T	0.76675	-0.2872	10	0.56958	D	0.05	.	10.6112	0.45423	0.0:0.4523:0.0:0.5477	.	325;2339	E7EQ84;Q8IZT6	.;ASPM_HUMAN	P	2339;325	ENSP00000356379:T2339P	ENSP00000356376:T325P	T	-	1	0	ASPM	195337989	0.000000	0.05858	0.000000	0.03702	0.965000	0.64279	-0.276000	0.08514	-0.284000	0.09102	0.456000	0.33151	ACT		0.408	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
RRP15	51018	broad.mit.edu	37	1	218478415	218478415	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr1:218478415G>A	ENST00000366932.3	+	3	481	c.451G>A	c.(451-453)Gat>Aat	p.D151N		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	151						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)			ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		AGTAAAGCCAGATGTTGTCCA	0.363																																						uc001hlj.3																		ACBD6/RRP15(2)	0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(451-453)Gat>Aat		Homo sapiens ribosomal RNA processing 15 homolog (S. cerevisiae) (RRP15), mRNA.							177.0	189.0	185.0					1																	218478415		2203	4300	6503	SO:0001583	missense	51018					mitochondrion|nucleolus	protein binding	g.chr1:218478415G>A		CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"""KIAA0507"""	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.451G>A	1.37:g.218478415G>A	ENSP00000355899:p.Asp151Asn						p.D151N	NM_016052	NP_057136	Q9Y3B9	RRP15_HUMAN		all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)	2	481	+			151						Missense_Mutation	SNP	ENST00000366932.3	37	c.451G>A	CCDS1520.2	.	.	.	.	.	.	.	.	.	.	G	36	5.940996	0.97128	.	.	ENSG00000067533	ENST00000366932	T	0.45276	0.9	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.60625	0.2283	M	0.64997	1.995	0.80722	D	1	D	0.57899	0.981	P	0.60117	0.869	T	0.47812	-0.9088	10	0.27082	T	0.32	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	151	Q9Y3B9	RRP15_HUMAN	N	151	ENSP00000355899:D151N	ENSP00000355899:D151N	D	+	1	0	RRP15	216545038	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.357000	0.97099	2.941000	0.99782	0.655000	0.94253	GAT		0.363	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095284.1	NM_016052	
PTEN	5728	broad.mit.edu	37	10	89711891	89711891	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr10:89711891G>A	ENST00000371953.3	+	6	1866	c.509G>A	c.(508-510)aGt>aAt	p.S170N		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	170	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BRRS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4). {ECO:0000269|PubMed:10400993, ECO:0000269|PubMed:11494117, ECO:0000269|PubMed:9241266}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.S170N(6)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.S170I(3)|p.Y27fs*1(2)|p.V166fs*10(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACTATTCCCAGTCAGAGGCGC	0.353		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		65	Whole gene deletion(37)|Deletion - Frameshift(10)|Substitution - Missense(9)|Complex - frameshift(4)|Unknown(4)|Deletion - In frame(1)	p.0?(37)|p.S170N(12)|p.S170I(6)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.P169H(1)|p.V166fs*10(1)|p.G165_*404del(1)|p.S170fs*13(1)|p.S170_Q171del(1)|p.G165_K342del(1)|p.S170G(1)|p.S170fs*8(1)	central_nervous_system(18)|prostate(16)|skin(8)|endometrium(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|biliary_tract(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(508-510)aGt>aAt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							121.0	124.0	123.0					10																	89711891		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711891G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.509G>A	10.37:g.89711891G>A	ENSP00000361021:p.Ser170Asn	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.S170N	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1541	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	170		S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BZS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.509G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140552	0.94560	.	.	ENSG00000171862	ENST00000371953	D	0.98822	-5.16	5.74	5.74	0.90152	Phosphatase tensin type (1);	0.077988	0.85682	D	0.000000	D	0.99489	0.9818	H	0.96489	3.83	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.98342	1.0539	9	.	.	.	-3.8658	19.9308	0.97118	0.0:0.0:1.0:0.0	.	170	P60484	PTEN_HUMAN	N	170	ENSP00000361021:S170N	.	S	+	2	0	PTEN	89701871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.370000	0.97159	2.722000	0.93159	0.591000	0.81541	AGT		0.353	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
SLC22A10	387775	broad.mit.edu	37	11	63069908	63069908	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr11:63069908G>A	ENST00000332793.6	+	7	1180	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q	SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000544661.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	393						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	CTCATAGTTCGATGTCTTGCT	0.438																																						uc009yor.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1177-1179)cGa>cAa		Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.							176.0	155.0	161.0					11																	63069908		1899	4108	6007	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63069908G>A	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.1178G>A	11.37:g.63069908G>A	ENSP00000327569:p.Arg393Gln					SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Intron|SLC22A10_uc010rmp.1_Intron	p.R393Q	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN			6	1386	+			393					Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.1178G>A	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290221	0.23478	.	.	ENSG00000184999	ENST00000332793	T	0.73897	-0.79	3.62	-6.1	0.02138	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.071597	0.53938	U	0.000048	T	0.63200	0.2491	M	0.86028	2.79	0.09310	N	1	B	0.29646	0.253	B	0.23150	0.044	T	0.52472	-0.8571	9	.	.	.	.	2.0761	0.03624	0.5067:0.1364:0.2192:0.1377	.	393	Q63ZE4	S22AA_HUMAN	Q	393	ENSP00000327569:R393Q	.	R	+	2	0	SLC22A10	62826484	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.906000	0.04071	-1.271000	0.02430	-0.315000	0.08773	CGA		0.438	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752	
NAALADL1	10004	broad.mit.edu	37	11	64821985	64821985	+	Missense_Mutation	SNP	C	C	T	rs138766443		TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr11:64821985C>T	ENST00000358658.3	-	5	856	c.829G>A	c.(829-831)Gga>Aga	p.G277R	NAALADL1_ENST00000339885.2_Missense_Mutation_p.G277R|NAALADL1_ENST00000355369.2_Missense_Mutation_p.G277R|NAALADL1_ENST00000340252.4_Missense_Mutation_p.G277R|NAALADL1_ENST00000355721.3_Missense_Mutation_p.G236R|NAALADL1_ENST00000356632.3_Missense_Mutation_p.G277R	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	277	NAALADase.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GGGGGAAATCCGGAGACATTG	0.597																																						uc001ocn.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(829-831)Gga>Aga		Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.		C	ARG/GLY	1,4401	2.1+/-5.4	0,1,2200	46.0	41.0	43.0		829	4.7	0.9	11	dbSNP_134	43	1,8593	1.2+/-3.3	0,1,4296	no	missense	NAALADL1	NM_005468.2	125	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	277/741	64821985	2,12994	2201	4297	6498	SO:0001583	missense	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64821985C>T	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.829G>A	11.37:g.64821985C>T	ENSP00000351484:p.Gly277Arg					NAALADL1_uc010rnw.2_5'UTR	p.G277R	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN			4	845	-			277			NAALADase.		C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.829G>A	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647024	0.87958	2.27E-4	1.16E-4	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	4.7	4.7	0.59300	.	0.057776	0.64402	D	0.000002	T	0.53174	0.1780	M	0.74647	2.275	0.58432	D	0.999996	D	0.60575	0.988	P	0.51170	0.661	T	0.60591	-0.7233	10	0.87932	D	0	-7.9788	13.0267	0.58819	0.0:1.0:0.0:0.0	.	277	Q9UQQ1	NALDL_HUMAN	R	277;277;277;277;277;236;277	ENSP00000351484:G277R;ENSP00000347530:G277R;ENSP00000340111:G277R;ENSP00000344244:G277R;ENSP00000347955:G236R;ENSP00000349045:G277R	ENSP00000340111:G277R	G	-	1	0	NAALADL1	64578561	1.000000	0.71417	0.910000	0.35882	0.923000	0.55619	4.194000	0.58393	2.451000	0.82905	0.655000	0.94253	GGA		0.597	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468	
UNC93B1	81622	broad.mit.edu	37	11	67765220	67765220	+	Silent	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr11:67765220C>T	ENST00000227471.2	-	7	910	c.831G>A	c.(829-831)cgG>cgA	p.R277R	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	277					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											GCGGGAGCGTCCGCAGAACCG	0.652																																						uc001omw.1																			0											c.(829-831)cgG>cgA		Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA.							30.0	39.0	36.0					11																	67765220		2054	4200	6254	SO:0001819	synonymous_variant	81622				innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome		g.chr11:67765220C>T	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"""unc93 (C. elegans) homolog B1"""			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.831G>A	11.37:g.67765220C>T							p.R277R	NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN			6	911	-			277					O95764|Q569H6|Q710D4	Silent	SNP	ENST00000227471.2	37	c.831G>A																																																																																					0.652	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_030930	
MMP10	4319	broad.mit.edu	37	11	102646042	102646042	+	Nonsense_Mutation	SNP	G	G	A	rs150825082		TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr11:102646042G>A	ENST00000279441.4	-	7	979	c.943C>T	c.(943-945)Cga>Tga	p.R315*		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	315					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	TGGGATCTTCGCCAAAAATAT	0.333													G|||	1	0.000199681	0.0	0.0	5008	,	,		16201	0.001		0.0	False		,,,				2504	0.0					uc001phg.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22						c.(943-945)Cga>Tga		Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.		G	stop/ARG	4,4402	8.1+/-20.4	0,4,2199	62.0	64.0	63.0		943	3.3	1.0	11	dbSNP_134	63	0,8598		0,0,4299	yes	stop-gained	MMP10	NM_002425.2		0,4,6498	AA,AG,GG		0.0,0.0908,0.0308		315/477	102646042	4,13000	2203	4299	6502	SO:0001587	stop_gained	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102646042G>A	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.943C>T	11.37:g.102646042G>A	ENSP00000279441:p.Arg315*						p.R315*	NM_002425	NP_002416	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	6	980	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	315			Hemopexin-like 1.		B2R9X9|Q53HH9	Nonsense_Mutation	SNP	ENST00000279441.4	37	c.943C>T	CCDS8321.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.03	3.747313	0.69533	9.08E-4	0.0	ENSG00000166670	ENST00000279441	.	.	.	4.2	3.28	0.37604	.	0.000000	0.46145	D	0.000317	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3538	0.32318	0.0826:0.0:0.7636:0.1537	.	.	.	.	X	315	.	ENSP00000279441:R315X	R	-	1	2	MMP10	102151252	1.000000	0.71417	0.968000	0.41197	0.289000	0.27227	3.442000	0.52900	1.119000	0.41883	0.644000	0.83932	CGA		0.333	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1		
KCNA1	3736	broad.mit.edu	37	12	5020794	5020794	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr12:5020794C>T	ENST00000382545.3	+	2	1357	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	84					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CTTCTTCGACCGCAACCGGCC	0.627																																						uc001qnh.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(250-252)Cgc>Tgc		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						64.0	66.0	65.0					12																	5020794		2203	4298	6501	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5020794C>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.250C>T	12.37:g.5020794C>T	ENSP00000371985:p.Arg84Cys					KCNA1_uc021qts.1_Missense_Mutation_p.R84C	p.R84C	NM_000217	NP_000208	Q09470	KCNA1_HUMAN			1	1355	+			84					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.250C>T	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971294	0.53614	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.90324	-2.65	4.34	4.34	0.51931	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.97489	0.9178	H	0.99705	4.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98063	1.0394	10	0.87932	D	0	.	13.158	0.59529	0.1598:0.8402:0.0:0.0	.	84	Q09470	KCNA1_HUMAN	C	84	ENSP00000371985:R84C	ENSP00000228858:R84C	R	+	1	0	KCNA1	4891055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.650000	0.46665	2.410000	0.81850	0.650000	0.86243	CGC		0.627	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217	
CFAP54	144535	broad.mit.edu	37	12	97085019	97085019	+	Silent	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr12:97085019C>T	ENST00000524981.4	+	44	6218	c.6195C>T	c.(6193-6195)gaC>gaT	p.D2065D				Q96N23	CL055_HUMAN		0																	ACAGGGCTGACATTTGCTCTG	0.358																																						uc021rcc.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(1468-1470)gaC>gaT		RecName: Full=Putative uncharacterized protein C12orf63;							124.0	111.0	115.0					12																	97085019		2203	4300	6503	SO:0001819	synonymous_variant	374467							g.chr12:97085019C>T																												ENST00000524981.4:c.6195C>T	12.37:g.97085019C>T							p.D490D			Q6ZTY8	CL063_HUMAN			10	1548	+			490						Silent	SNP	ENST00000524981.4	37	c.1470C>T																																																																																					0.358	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4		
PCDH20	64881	broad.mit.edu	37	13	61986212	61986212	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr13:61986212C>G	ENST00000409186.1	-	5	4125	c.2020G>C	c.(2020-2022)Gtc>Ctc	p.V674L	PCDH20_ENST00000409204.4_Missense_Mutation_p.V674L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	674	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GAGAGGGCGACCCATCCATTT	0.458																																						uc001vid.4																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(2020-2022)Gtc>Ctc		Homo sapiens protocadherin 20 (PCDH20), mRNA.							89.0	88.0	89.0					13																	61986212		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986212C>G	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2020G>C	13.37:g.61986212C>G	ENSP00000386653:p.Val674Leu					PCDH20_uc010thj.2_Missense_Mutation_p.V674L	p.V674L	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	1	2384	-		Breast(118;0.195)|Prostate(109;0.229)	647			Cadherin 5.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.2020G>C	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	13.90	2.376298	0.42105	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.02916	4.11;4.11	5.94	5.94	0.96194	.	0.000000	0.53938	D	0.000041	T	0.03827	0.0108	L	0.50993	1.605	0.80722	D	1	P	0.38617	0.64	B	0.36567	0.228	T	0.56517	-0.7966	10	0.14252	T	0.57	.	13.5417	0.61679	0.0:0.9291:0.0:0.0709	.	674	A8K1K9	.	L	674;674;420	ENSP00000387250:V674L;ENSP00000386653:V674L	ENSP00000351500:V420L	V	-	1	0	PCDH20	60884213	1.000000	0.71417	0.998000	0.56505	0.790000	0.44656	6.022000	0.70839	2.812000	0.96745	0.557000	0.71058	GTC		0.458	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843	
LRFN5	145581	broad.mit.edu	37	14	42355895	42355895	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr14:42355895C>T	ENST00000298119.4	+	3	1256	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C	LRFN5_ENST00000554171.1_Missense_Mutation_p.R23C|LRFN5_ENST00000554120.1_Missense_Mutation_p.R23C	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	23	LRRNT.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGTCCAAAGCGTTGTGTCTG	0.398										HNSCC(30;0.082)																												uc001wvm.3																			0		p.R23H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(67-69)Cgt>Tgt		Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.							92.0	83.0	86.0					14																	42355895		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42355895C>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.67C>T	14.37:g.42355895C>T	ENSP00000298119:p.Arg23Cys	HNSCC(30;0.082)				LRFN5_uc010ana.3_Missense_Mutation_p.R23C	p.R23C	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	2	1265	+			23			LRRNT.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.67C>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799459	0.50208	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.53640	0.73;0.61;0.61	5.56	5.56	0.83823	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.56097	D	0.000022	T	0.48572	0.1507	M	0.72894	2.215	0.80722	D	1	B;P	0.42010	0.397;0.768	B;B	0.36464	0.17;0.225	T	0.53718	-0.8399	10	0.44086	T	0.13	.	17.0193	0.86429	0.0:1.0:0.0:0.0	.	23;23	G3V364;Q96NI6	.;LRFN5_HUMAN	C	23	ENSP00000298119:R23C;ENSP00000451897:R23C;ENSP00000451067:R23C	ENSP00000298119:R23C	R	+	1	0	LRFN5	41425645	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.595000	0.87683	0.650000	0.86243	CGT		0.398	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447	
GPR65	8477	broad.mit.edu	37	14	88478097	88478097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr14:88478097G>A	ENST00000267549.3	+	2	1464	c.906G>A	c.(904-906)tgG>tgA	p.W302*	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	302					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						ATGATATGTGGAATATATTAA	0.343																																						uc021rxh.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						c.(904-906)tgG>tgA		Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.							77.0	76.0	76.0					14																	88478097		2203	4300	6503	SO:0001587	stop_gained	8477				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88478097G>A	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.906G>A	14.37:g.88478097G>A	ENSP00000267549:p.Trp302*					GPR65_uc001xvv.3_Nonsense_Mutation_p.W302*	p.W302*	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN			0	906	+			302					O75819	Nonsense_Mutation	SNP	ENST00000267549.3	37	c.906G>A	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	G	41	8.873957	0.98986	.	.	ENSG00000140030	ENST00000267549	.	.	.	5.98	5.98	0.97165	.	0.645425	0.13887	N	0.355912	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	.	.	.	X	302	.	ENSP00000267549:W302X	W	+	3	0	GPR65	87547850	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.203000	0.77864	2.835000	0.97688	0.650000	0.86243	TGG		0.343	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4		
IGF1R	3480	broad.mit.edu	37	15	99454571	99454571	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr15:99454571C>G	ENST00000268035.6	+	7	2101	c.1490C>G	c.(1489-1491)tCc>tGc	p.S497C	IGF1R_ENST00000558762.1_Missense_Mutation_p.S497C	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	497	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CATTTCACCTCCACCACCACG	0.522																																						uc002bul.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(1489-1491)tCc>tGc		Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						152.0	118.0	129.0					15																	99454571		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99454571C>G	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1490C>G	15.37:g.99454571C>G	ENSP00000268035:p.Ser497Cys					IGF1R_uc010urq.2_Missense_Mutation_p.S497C|IGF1R_uc010bon.3_Missense_Mutation_p.S497C|IGF1R_uc010urr.1_5'UTR	p.S497C	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		6	1540	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		497			Fibronectin type-III 1.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.1490C>G	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382841	0.82792	.	.	ENSG00000140443	ENST00000268035	T	0.69806	-0.43	5.67	4.74	0.60224	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000020	T	0.81273	0.4788	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;0.993	D;P	0.72075	0.976;0.775	T	0.81892	-0.0724	10	0.39692	T	0.17	.	16.2137	0.82186	0.1341:0.8659:0.0:0.0	.	497;497	C9J5X1;P08069	.;IGF1R_HUMAN	C	497	ENSP00000268035:S497C	ENSP00000268035:S497C	S	+	2	0	IGF1R	97272094	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.747000	0.62141	1.493000	0.48517	0.655000	0.94253	TCC		0.522	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	
LRRK1	79705	broad.mit.edu	37	15	101595206	101595206	+	Silent	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr15:101595206C>T	ENST00000388948.3	+	27	4469	c.4110C>T	c.(4108-4110)atC>atT	p.I1370I	LRRK1_ENST00000284395.5_Silent_p.I1367I|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTACCAGATCGCCTCGGGCC	0.438																																						uc002bwr.3																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(4108-4110)atC>atT		Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.							124.0	121.0	122.0					15																	101595206		1981	4145	6126	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101595206C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4110C>T	15.37:g.101595206C>T						LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	p.I1370I	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		26	4429	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1370			Protein kinase.			Silent	SNP	ENST00000388948.3	37	c.4110C>T	CCDS42086.1																																																																																				0.438	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
KDM8	79831	broad.mit.edu	37	16	27225037	27225037	+	Silent	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr16:27225037C>T	ENST00000286096.4	+	3	803	c.630C>T	c.(628-630)ggC>ggT	p.G210G	KDM8_ENST00000380948.2_Intron|KDM8_ENST00000568965.1_Intron|CTD-3203P2.1_ENST00000567108.1_RNA|KDM8_ENST00000441782.2_Silent_p.G248G	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	210					G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)										TCCTGAAAGGCGTGGCTGACC	0.582																																						uc010vcn.1																			0											c.(742-744)ggC>ggT		Homo sapiens jumonji domain containing 5 (JMJD5), transcript variant 1, mRNA.							60.0	60.0	60.0					16																	27225037		2197	4300	6497	SO:0001819	synonymous_variant	79831				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:27225037C>T	AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"""Chromatin-modifying enzymes / K-demethylases"""	25840	protein-coding gene	gene with protein product		611917	"""jumonji domain containing 5"""	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.630C>T	16.37:g.27225037C>T						KDM8_uc002doh.2_Silent_p.G210G|KDM8_uc010bxw.2_Intron|KDM8_uc010bxx.2_5'Flank	p.G248G	NM_001145348	NP_079049	Q8N371	KDM8_HUMAN			2	862	+			210					B4DLU9|Q6VAK5|Q9H8B1	Silent	SNP	ENST00000286096.4	37	c.744C>T	CCDS10627.1																																																																																				0.582	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254580.3	NM_024773	
NPIPB6	728741	broad.mit.edu	37	16	28354478	28354478	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr16:28354478G>A	ENST00000532254.1	-	7	1413	c.728C>T	c.(727-729)tCt>tTt	p.S243F	NPIPB6_ENST00000533640.1_Missense_Mutation_p.S225F	NM_001282524.1	NP_001269453.1	E9PJ23	NPIB6_HUMAN	nuclear pore complex interacting protein family, member B6	243																	CAATCCTGAAGAATGACGATG	0.473																																						uc010vcr.2																			0				lung(1)	1						c.(727-729)tCt>tTt		SubName: Full=Uncharacterized protein;																																				SO:0001583	missense	440350							g.chr16:28354478G>A		CCDS61892.1	16p11.2	2013-06-11			ENSG00000198156	ENSG00000198156			37454	protein-coding gene	gene with protein product							Standard	XM_005255741		Approved			E9PJ23	OTTHUMG00000166319	ENST00000532254.1:c.728C>T	16.37:g.28354478G>A	ENSP00000431871:p.Ser243Phe					NPIPL1_uc010vcq.2_Missense_Mutation_p.S225F	p.S243F							6	1414	-									Missense_Mutation	SNP	ENST00000532254.1	37	c.728C>T		.	.	.	.	.	.	.	.	.	.	-	6.144	0.394786	0.11638	.	.	ENSG00000198156	ENST00000533640;ENST00000532254	T;T	0.58797	0.31;0.31	0.167	-0.334	0.12666	.	.	.	.	.	T	0.65729	0.2719	L	0.56769	1.78	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	T	0.55786	-0.8086	8	0.72032	D	0.01	.	.	.	.	.	243;225	E9PJ23;E9PS57	.;.	F	225;243	ENSP00000435924:S225F;ENSP00000431871:S243F	ENSP00000431871:S243F	S	-	2	0	RP11-57A19.3	28261979	0.001000	0.12720	0.006000	0.13384	0.006000	0.05464	-0.128000	0.10531	-0.972000	0.03559	-0.971000	0.02607	TCT		0.473	NPIPB6-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389133.1	XM_001717652	
CHST5	23563	broad.mit.edu	37	16	75564022	75564022	+	Silent	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr16:75564022G>A	ENST00000336257.3	-	3	1655	c.261C>T	c.(259-261)gaC>gaT	p.D87D	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.D93D	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	87					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGTAGAAGACGTCGGGGTGCT	0.672																																						uc002fej.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(277-279)gaC>gaT		Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.							40.0	37.0	38.0					16																	75564022		2198	4300	6498	SO:0001819	synonymous_variant	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75564022G>A	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.261C>T	16.37:g.75564022G>A						CHST5_uc002fei.3_Silent_p.D87D|CHST5_uc021tlk.1_Silent_p.D87D	p.D93D	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN			4	600	-			87					B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	ENST00000336257.3	37	c.279C>T	CCDS10919.1																																																																																				0.672	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126	
KRTAP4-7	100132476	broad.mit.edu	37	17	39240819	39240819	+	Missense_Mutation	SNP	C	C	G	rs374377149		TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr17:39240819C>G	ENST00000391417.4	+	1	361	c.361C>G	c.(361-363)Ctg>Gtg	p.L121V		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	176	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						ctgctgctgcCTGCGTCCAGT	0.657																																						uc010wfn.2																			0				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(361-363)Ctg>Gtg		Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.							26.0	26.0	26.0					17																	39240819		692	1591	2283	SO:0001583	missense	100132476							g.chr17:39240819C>G	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.361C>G	17.37:g.39240819C>G	ENSP00000375236:p.Leu121Val						p.L121V	NM_033061	NP_149050					0	361	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.361C>G	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.902	-0.722098	0.03182	.	.	ENSG00000240871	ENST00000391417	T	0.00587	6.38	3.27	1.03	0.20045	.	.	.	.	.	T	0.00356	0.0011	.	.	.	0.09310	N	1	B	0.21606	0.058	B	0.14023	0.01	T	0.41484	-0.9506	8	0.18710	T	0.47	.	2.4062	0.04414	0.1899:0.5061:0.186:0.118	.	176	Q9BYR0	KRA47_HUMAN	V	121	ENSP00000375236:L121V	ENSP00000375236:L121V	L	+	1	2	KRTAP4-7	36494345	0.356000	0.24930	0.829000	0.32907	0.752000	0.42762	-0.391000	0.07323	0.126000	0.18424	0.305000	0.20034	CTG		0.657	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1		
MED13	9969	broad.mit.edu	37	17	60107352	60107352	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr17:60107352C>G	ENST00000397786.2	-	7	1108	c.1032G>C	c.(1030-1032)aaG>aaC	p.K344N	MED13_ENST00000580896.1_5'Flank	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	344					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATTTGACCCACTTCTGGACAG	0.363																																						uc002izo.3																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(1030-1032)aaG>aaC		Homo sapiens mediator complex subunit 13 (MED13), mRNA.							70.0	61.0	64.0					17																	60107352		1819	4086	5905	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60107352C>G	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.1032G>C	17.37:g.60107352C>G	ENSP00000380888:p.Lys344Asn					MED13_uc002izp.3_5'UTR	p.K344N	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			6	1109	-			344					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.1032G>C	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.707184	0.30232	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.75821	-0.97	5.67	2.31	0.28768	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.000000	0.85682	D	0.000000	T	0.76579	0.4007	L	0.60455	1.87	0.58432	D	0.999994	D	0.69078	0.997	P	0.62491	0.903	T	0.71421	-0.4598	10	0.18710	T	0.47	-4.0313	7.1619	0.25669	0.0:0.5589:0.0:0.4411	.	344	Q9UHV7	MED13_HUMAN	N	344;343	ENSP00000380888:K344N	ENSP00000262436:K343N	K	-	3	2	MED13	57462134	0.994000	0.37717	1.000000	0.80357	0.980000	0.70556	0.427000	0.21379	0.754000	0.32968	0.462000	0.41574	AAG		0.363	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121	
LAMA1	284217	broad.mit.edu	37	18	7011417	7011417	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr18:7011417G>A	ENST00000389658.3	-	25	3662	c.3569C>T	c.(3568-3570)aCg>aTg	p.T1190M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1190	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCCCTCGGTCGTGCCCCTCAA	0.597																																						uc002knm.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(3568-3570)aCg>aTg		Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						29.0	30.0	29.0					18																	7011417		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7011417G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3569C>T	18.37:g.7011417G>A	ENSP00000374309:p.Thr1190Met					LAMA1_uc010wzj.2_Missense_Mutation_p.T666M	p.T1190M	NM_005559	NP_005550	P25391	LAMA1_HUMAN			24	3663	-		Colorectal(10;0.172)	1190			Laminin IV type A 2.			Missense_Mutation	SNP	ENST00000389658.3	37	c.3569C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485004	0.84854	.	.	ENSG00000101680	ENST00000389658	T	0.19394	2.15	5.87	5.87	0.94306	Laminin B type IV (1);	0.219105	0.38436	N	0.001693	T	0.49133	0.1539	M	0.78801	2.425	0.43377	D	0.99547	D	0.89917	1.0	D	0.66716	0.946	T	0.30416	-0.9979	10	0.36615	T	0.2	.	20.2033	0.98269	0.0:0.0:1.0:0.0	.	1190	P25391	LAMA1_HUMAN	M	1190	ENSP00000374309:T1190M	ENSP00000374309:T1190M	T	-	2	0	LAMA1	7001417	1.000000	0.71417	0.953000	0.39169	0.860000	0.49131	5.753000	0.68736	2.765000	0.95021	0.643000	0.83706	ACG		0.597	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
MUC16	94025	broad.mit.edu	37	19	9088981	9088981	+	Missense_Mutation	SNP	G	G	A	rs202224746		TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr19:9088981G>A	ENST00000397910.4	-	1	3037	c.2834C>T	c.(2833-2835)aCg>aTg	p.T945M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	945	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						CATTGTTGCCGTCCCAGTGAG	0.478													g|||	1	0.000199681	0.0	0.0014	5008	,	,		22768	0.0		0.0	False		,,,				2504	0.0					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.(2833-2835)aCg>aTg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.		G	MET/THR	2,3974		0,2,1986	144.0	141.0	142.0		2834	-0.9	0.0	19		142	3,8333		0,3,4165	yes	missense	MUC16	NM_024690.2	81	0,5,6151	AA,AG,GG		0.036,0.0503,0.0406	benign	945/14508	9088981	5,12307	1988	4168	6156	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088981G>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.2834C>T	19.37:g.9088981G>A	ENSP00000381008:p.Thr945Met						p.T945M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			0	3038	-			945			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.2834C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	0.799	-0.756160	0.03019	5.03E-4	3.6E-4	ENSG00000181143	ENST00000397910	T	0.02579	4.24	1.55	-0.917	0.10485	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	.	.	.	B	0.32128	0.357	B	0.17098	0.017	T	0.46105	-0.9215	8	0.87932	D	0	.	2.9714	0.05924	0.1967:0.291:0.5123:0.0	.	945	B5ME49	.	M	945	ENSP00000381008:T945M	ENSP00000381008:T945M	T	-	2	0	MUC16	8949981	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.747000	0.04823	-0.150000	0.11195	-0.974000	0.02594	ACG		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
FCGBP	8857	broad.mit.edu	37	19	40376645	40376645	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr19:40376645T>G	ENST00000221347.6	-	24	11784	c.11777A>C	c.(11776-11778)aAt>aCt	p.N3926T	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3926						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAAAGTTTCATTCCTCCAGGG	0.627																																						uc002omp.4																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(11776-11778)aAt>aCt		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.							95.0	120.0	112.0					19																	40376645		2099	4185	6284	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40376645T>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.11777A>C	19.37:g.40376645T>G	ENSP00000221347:p.Asn3926Thr						p.N3926T	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		23	11785	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		3926					O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.11777A>C	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.628414	0.00115	.	.	ENSG00000090920	ENST00000221347	T	0.75821	-0.97	3.67	-7.34	0.01427	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.43656	0.1257	N	0.04245	-0.25	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46569	-0.9182	9	0.08599	T	0.76	.	10.7931	0.46445	0.0:0.0957:0.2745:0.6298	.	3926	Q9Y6R7	FCGBP_HUMAN	T	3926	ENSP00000221347:N3926T	ENSP00000221347:N3926T	N	-	2	0	FCGBP	45068485	0.000000	0.05858	0.003000	0.11579	0.280000	0.26924	-1.808000	0.01732	-1.325000	0.02269	-0.708000	0.03648	AAT		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
APOB	338	broad.mit.edu	37	2	21238335	21238335	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr2:21238335C>T	ENST00000233242.1	-	22	3542	c.3415G>A	c.(3415-3417)Gcc>Acc	p.A1139T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1139					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACCAGTGGGCGAGGATCTCA	0.463																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(3415-3417)Gcc>Acc		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						147.0	132.0	137.0					2																	21238335		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21238335C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3415G>A	2.37:g.21238335C>T	ENSP00000233242:p.Ala1139Thr						p.A1139T	NM_000384	NP_000375	P04114	APOB_HUMAN			21	3543	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1139					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.3415G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	0.044	-1.274411	0.01421	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00705	5.81	5.49	-1.69	0.08186	.	0.816526	0.11095	N	0.600300	T	0.00241	0.0007	N	0.00237	-1.79	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.42632	-0.9440	10	0.08599	T	0.76	.	4.3526	0.11163	0.2627:0.4025:0.0:0.3348	.	1139	P04114	APOB_HUMAN	T	1139	ENSP00000233242:A1139T	ENSP00000233242:A1139T	A	-	1	0	APOB	21091840	0.002000	0.14202	0.014000	0.15608	0.062000	0.15995	-0.224000	0.09164	0.117000	0.18138	-0.290000	0.09829	GCC		0.463	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
SDPR	8436	broad.mit.edu	37	2	192711670	192711670	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr2:192711670G>A	ENST00000304141.4	-	0	311				AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			AGGTGGGAACGTTCTTTCTCT	0.617																																						uc002utb.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23								Homo sapiens serum deprivation response (SDPR), mRNA.	Phosphatidylserine(DB00144)						38.0	40.0	40.0					2																	192711670		2203	4300	6503			8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192711670G>A	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.-19C>T	2.37:g.192711670G>A								NM_004657	NP_004648	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		0		-									Translation_Start_Site	SNP	ENST00000304141.4	37		CCDS2313.1																																																																																				0.617	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657	
ALS2CR11	151254	broad.mit.edu	37	2	202483659	202483659	+	Frame_Shift_Del	DEL	G	G	-			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr2:202483659delG	ENST00000286195.3	-	1	239	c.195delC	c.(193-195)aacfs	p.N65fs	ALS2CR11_ENST00000439802.1_Frame_Shift_Del_p.N65fs|ALS2CR11_ENST00000439140.1_Frame_Shift_Del_p.N65fs|ALS2CR11_ENST00000450242.1_Frame_Shift_Del_p.N65fs	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	65										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTGGTTCTTGTTCTTAGGCA	0.657																																						uc002uyf.3																			0		p.K64N(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(193-195)aacfs		Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.							43.0	43.0	43.0					2																	202483659		2203	4300	6503	SO:0001589	frameshift_variant	151254							g.chr2:202483659delG	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.195delC	2.37:g.202483659delG	ENSP00000286195:p.Asn65fs					ALS2CR11_uc002uye.3_Frame_Shift_Del_p.N65fs|ALS2CR11_uc010fti.3_Frame_Shift_Del_p.N65fs|ALS2CR11_uc021vvc.1_Frame_Shift_Del_p.N65fs	p.N65fs	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN			0	247	-			65					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Frame_Shift_Del	DEL	ENST00000286195.3	37	c.195delC	CCDS2349.1																																																																																				0.657	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525	
PFKL	5211	broad.mit.edu	37	21	45732952	45732952	+	Silent	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr21:45732952C>T	ENST00000349048.4	+	5	574	c.519C>T	c.(517-519)gaC>gaT	p.D173D	PFKL_ENST00000403390.1_Silent_p.D220D|PFKL_ENST00000496824.1_3'UTR	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	173	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GCGGCACCGACATGACCATCG	0.632																																						uc002zek.3																			0		p.T219A(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(658-660)gaC>gaT		Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.							163.0	124.0	137.0					21																	45732952		2203	4300	6503	SO:0001819	synonymous_variant	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45732952C>T		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.519C>T	21.37:g.45732952C>T						PFKL_uc002zel.3_Silent_p.D173D|PFKL_uc011afd.1_Silent_p.D220D	p.D220D			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	7	1061	+			173					Q96A64|Q96IH4|Q9BR91	Silent	SNP	ENST00000349048.4	37	c.660C>T	CCDS33582.1																																																																																				0.632	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1		
PARVB	29780	broad.mit.edu	37	22	44536022	44536022	+	Splice_Site	SNP	C	C	T	rs149571024		TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr22:44536022C>T	ENST00000338758.7	+	8	774	c.711C>T	c.(709-711)ttC>ttT	p.F237F	PARVB_ENST00000404989.1_Splice_Site_p.F200F|PARVB_ENST00000406477.3_Splice_Site_p.F270F	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	237					actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGGGCCGGTTCGGTAAGTAAC	0.532																																						uc003bem.3																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.e9+1		Homo sapiens parvin, beta (PARVB), transcript variant 1, mRNA.		C	,	1,4405	2.1+/-5.4	0,1,2202	230.0	191.0	204.0		810,711	-1.5	1.0	22	dbSNP_134	204	0,8600		0,0,4300	no	coding-synonymous-near-splice,coding-synonymous-near-splice	PARVB	NM_001003828.2,NM_013327.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	270/398,237/365	44536022	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	29780				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	g.chr22:44536022C>T	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.712+1C>T	22.37:g.44536022C>T						PARVB_uc003ben.3_Splice_Site_p.E238_splice|PARVB_uc010gzn.3_Splice_Site_p.E186_splice|PARVB_uc003beo.3_Splice_Site_p.E201_splice	p.E271_splice	NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN			9	941	+		Ovarian(80;0.0246)|all_neural(38;0.0423)	238			CH 2.		B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Silent	SNP	ENST00000338758.7	37	c.811_splice	CCDS14056.1																																																																																				0.532	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828	Silent
UNC5C	8633	broad.mit.edu	37	4	96127874	96127874	+	Missense_Mutation	SNP	G	G	A	rs139568380	byFrequency	TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr4:96127874G>A	ENST00000453304.1	-	11	2155	c.1807C>T	c.(1807-1809)Cgc>Tgc	p.R603C		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	603	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.R603S(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ACGACTGGGCGGGTGAGCAGA	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		14748	0.0		0.002	False		,,,				2504	0.0					uc003hto.3																			1	Substitution - Missense(1)	p.R603S(2)	kidney(1)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1807-1809)Cgc>Tgc		Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	68.0	63.0	65.0		1807	5.3	1.0	4	dbSNP_134	65	18,8582	12.6+/-44.7	0,18,4282	no	missense	UNC5C	NM_003728.3	180	0,20,6483	AA,AG,GG		0.2093,0.0454,0.1538	probably-damaging	603/932	96127874	20,12986	2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96127874G>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1807C>T	4.37:g.96127874G>A	ENSP00000406022:p.Arg603Cys					UNC5C_uc010ilc.2_Missense_Mutation_p.R622C	p.R603C	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	10	2160	-		Hepatocellular(203;0.114)	603			ZU5.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.1807C>T	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753488	0.49362	4.54E-4	0.002093	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796	T;T	0.45668	0.89;0.89	5.28	5.28	0.74379	ZU5 (3);	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.975	T	0.61589	-0.7032	10	0.45353	T	0.12	.	19.2637	0.93979	0.0:0.0:1.0:0.0	.	603;603	A8K385;O95185	.;UNC5C_HUMAN	C	603;562;622	ENSP00000406022:R603C;ENSP00000426924:R622C	ENSP00000328673:R562C	R	-	1	0	UNC5C	96346897	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	4.829000	0.62737	2.611000	0.88343	0.563000	0.77884	CGC		0.582	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728	
AHRR	57491	broad.mit.edu	37	5	422882	422882	+	Silent	SNP	C	C	T	rs2671894	byFrequency	TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr5:422882C>T	ENST00000505113.1	+	6	536	c.492C>T	c.(490-492)caC>caT	p.H164H	AHRR_ENST00000512529.1_Silent_p.H10H|AHRR_ENST00000316418.5_Silent_p.H164H|AHRR_ENST00000506456.1_Silent_p.H20H	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	164	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ACTACATCCACGTGGACGACC	0.547													C|||	5	0.000998403	0.0038	0.0	5008	,	,		19057	0.0		0.0	False		,,,				2504	0.0					uc003jav.3																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(490-492)caC>caT		Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.		C	,	37,3935		0,37,1949	74.0	82.0	80.0		492,492	-4.3	1.0	5	dbSNP_100	80	0,8300		0,0,4150	no	coding-synonymous,coding-synonymous	AHRR	NM_001242412.1,NM_020731.4	,	0,37,6099	TT,TC,CC		0.0,0.9315,0.3015	,	164/702,164/720	422882	37,12235	1986	4150	6136	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:422882C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.492C>T	5.37:g.422882C>T						AHRR_uc003jaw.3_Silent_p.H164H|AHRR_uc010isy.3_Silent_p.H10H|AHRR_uc010isz.3_Silent_p.H160H|AHRR_uc003jax.3_5'UTR|AHRR_uc003jay.3_Silent_p.H20H	p.H164H	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		5	535	+			164			PAS.		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.492C>T	CCDS56355.1																																																																																				0.547	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731	
CARD6	84674	broad.mit.edu	37	5	40853877	40853877	+	Frame_Shift_Del	DEL	T	T	-			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr5:40853877delT	ENST00000254691.5	+	3	2642	c.2443delT	c.(2443-2445)tttfs	p.F815fs	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	815					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GAATGGAACATTTGGGAGACT	0.453																																						uc003jmg.3																			0		p.T814K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(2443-2445)tttfs		Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.							247.0	260.0	256.0					5																	40853877		2203	4300	6503	SO:0001589	frameshift_variant	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40853877delT	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2443delT	5.37:g.40853877delT	ENSP00000254691:p.Phe815fs						p.F815fs	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			2	2518	+			815					Q52LR2	Frame_Shift_Del	DEL	ENST00000254691.5	37	c.2443delT	CCDS3935.1																																																																																				0.453	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3		
HCN1	348980	broad.mit.edu	37	5	45262241	45262241	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr5:45262241C>T	ENST00000303230.4	-	8	2512	c.2455G>A	c.(2455-2457)Gtg>Atg	p.V819M		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	819					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACCGCCGTCACGGGTTGAGGG	0.677																																						uc003jok.3																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2455-2457)Gtg>Atg		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							31.0	33.0	32.0					5																	45262241		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262241C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2455G>A	5.37:g.45262241C>T	ENSP00000307342:p.Val819Met						p.V819M	NM_021072	NP_066550	O60741	HCN1_HUMAN			7	2480	-			819						Missense_Mutation	SNP	ENST00000303230.4	37	c.2455G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	3.532	-0.095427	0.07010	.	.	ENSG00000164588	ENST00000303230	D	0.97430	-4.38	5.02	3.2	0.36748	.	0.562530	0.16681	N	0.203943	D	0.91851	0.7421	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	D	0.85041	0.0923	10	0.62326	D	0.03	.	6.1826	0.20480	0.0:0.6436:0.1339:0.2225	.	819	O60741	HCN1_HUMAN	M	819	ENSP00000307342:V819M	ENSP00000307342:V819M	V	-	1	0	HCN1	45297998	0.033000	0.19621	0.118000	0.21660	0.722000	0.41435	1.321000	0.33678	0.596000	0.29794	0.655000	0.94253	GTG		0.677	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
DMGDH	29958	broad.mit.edu	37	5	78326739	78326739	+	Missense_Mutation	SNP	G	G	T	rs369682083		TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr5:78326739G>T	ENST00000255189.3	-	10	1628	c.1600C>A	c.(1600-1602)Cta>Ata	p.L534I	DMGDH_ENST00000380311.4_Missense_Mutation_p.L333I|DMGDH_ENST00000540686.1_Missense_Mutation_p.L154I	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	534					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AATGGTGATAGGTCAGTTACC	0.433																																						uc003kfs.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1600-1602)Cta>Ata		Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.							142.0	133.0	136.0					5																	78326739		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78326739G>T	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1600C>A	5.37:g.78326739G>T	ENSP00000255189:p.Leu534Ile					DMGDH_uc011cte.1_Missense_Mutation_p.L384I|DMGDH_uc011ctf.1_Missense_Mutation_p.L333I|DMGDH_uc011ctg.1_Missense_Mutation_p.L154I	p.L534I	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	9	1606	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	534					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.1600C>A	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593893	0.86953	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.86	5.86	0.93980	Glycine cleavage T-protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80281	0.4594	L	0.47078	1.49	0.80722	D	1	D;D;P;B	0.65815	0.995;0.957;0.507;0.359	P;P;B;B	0.61397	0.888;0.828;0.288;0.3	T	0.72643	-0.4231	10	0.10902	T	0.67	.	20.1931	0.98233	0.0:0.0:1.0:0.0	.	154;333;384;534	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	I	534;373;333;154;384	ENSP00000255189:L534I;ENSP00000430972:L373I;ENSP00000369667:L333I;ENSP00000439478:L154I	ENSP00000255189:L534I	L	-	1	2	DMGDH	78362495	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	6.662000	0.74426	2.771000	0.95319	0.563000	0.77884	CTA		0.433	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391	
GCNT2	2651	broad.mit.edu	37	6	10529185	10529186	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr6:10529185_10529186delTT	ENST00000379597.3	+	1	597_598	c.41_42delTT	c.(40-42)cttfs	p.L14fs	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Frame_Shift_Del_p.L14fs			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	14					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AGCGCGTCTCTTATCTCTGCCC	0.401																																						uc010joo.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(40-42)cttfs		Homo sapiens glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) (GCNT2), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10529185_10529186delTT	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.41_42delTT	6.37:g.10529185_10529186delTT	ENSP00000368917:p.Leu14fs					GCNT2_uc010jol.3_Intron|GCNT2_uc010jom.3_Intron|GCNT2_uc010jop.3_Intron|GCNT2_uc003mza.3_Intron|GCNT2_uc003mzc.4_Frame_Shift_Del_p.L13fs	p.L14fs	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	2	592_593	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	14						Frame_Shift_Del	DEL	ENST00000379597.3	37	c.41_42delTT	CCDS34338.1																																																																																				0.401	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649	
LAMA2	3908	broad.mit.edu	37	6	129823804	129823804	+	Splice_Site	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr6:129823804G>A	ENST00000421865.2	+	59	8294	c.8245G>A	c.(8245-8247)Ggt>Agt	p.G2749S	LAMA2_ENST00000498257.1_3'UTR	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2749					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TATTTTACAGGGTCCTTGTGC	0.388																																						uc021zfb.1																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.e59-1		Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.							70.0	70.0	70.0					6																	129823804		2203	4300	6503	SO:0001630	splice_region_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129823804G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8245-1G>A	6.37:g.129823804G>A						LAMA2_uc003qbn.3_Splice_Site_p.G2747_splice|LAMA2_uc003qbo.3_Splice_Site_p.G2743_splice|BC035400_uc003qbq.3_Non-coding_Transcript	p.G2749_splice	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	59	8350	+			2749					Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.8245_splice	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006607	0.74932	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.34072	1.38	6.17	6.17	0.99709	.	0.147482	0.64402	D	0.000009	T	0.24431	0.0592	L	0.60455	1.87	0.54753	D	0.999988	P;P	0.37423	0.594;0.594	B;B	0.29524	0.103;0.103	T	0.04621	-1.0938	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2750;2749	A6NF00;P24043	.;LAMA2_HUMAN	S	2749;2748;2749;767	ENSP00000400365:G2749S	.	G	+	1	0	LAMA2	129865497	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	8.167000	0.89668	2.941000	0.99782	0.655000	0.94253	GGT		0.388	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		Missense_Mutation
PHACTR2	9749	broad.mit.edu	37	6	144086812	144086812	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr6:144086812T>C	ENST00000427704.2	+	6	1206	c.1076T>C	c.(1075-1077)gTt>gCt	p.V359A	PHACTR2_ENST00000305766.6_Missense_Mutation_p.V279A|PHACTR2_ENST00000440869.2_Missense_Mutation_p.V370A|PHACTR2_ENST00000367584.4_Missense_Mutation_p.V347A|PHACTR2_ENST00000367582.3_Missense_Mutation_p.V290A	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	359							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CTCGTCAGCGTTGGAGCTGAC	0.582																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	uc010khi.3																			0		p.I369I(1)		NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1108-1110)gTt>gCt		Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.							75.0	76.0	76.0					6																	144086812		2002	4162	6164	SO:0001583	missense	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144086812T>C	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1076T>C	6.37:g.144086812T>C	ENSP00000391763:p.Val359Ala					PHACTR2_uc003qjq.4_Missense_Mutation_p.V359A|PHACTR2_uc010khh.3_Missense_Mutation_p.V279A|PHACTR2_uc003qjr.4_Missense_Mutation_p.V290A	p.V370A	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	5	1308	+			359					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	ENST00000427704.2	37	c.1109T>C	CCDS47492.1	.	.	.	.	.	.	.	.	.	.	T	10.17	1.276904	0.23307	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582	T;T;T;T;T	0.28895	1.59;2.05;1.62;2.05;1.62	5.22	-1.3	0.09259	.	2.578880	0.01155	N	0.006518	T	0.03305	0.0096	N	0.08118	0	0.09310	N	1	B;B;B;B	0.09022	0.0;0.002;0.002;0.001	B;B;B;B	0.06405	0.0;0.002;0.002;0.001	T	0.13818	-1.0495	10	0.08837	T	0.75	.	2.5727	0.04798	0.2808:0.1324:0.4245:0.1623	.	370;279;290;359	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	A	347;359;279;370;290	ENSP00000356556:V347A;ENSP00000391763:V359A;ENSP00000305530:V279A;ENSP00000417038:V370A;ENSP00000356554:V290A	ENSP00000305530:V279A	V	+	2	0	PHACTR2	144128505	0.000000	0.05858	0.001000	0.08648	0.879000	0.50718	-0.308000	0.08156	-0.211000	0.10124	0.533000	0.62120	GTT		0.582	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721	
SERAC1	84947	broad.mit.edu	37	6	158579375	158579375	+	Silent	SNP	G	G	A	rs139301835	byFrequency	TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr6:158579375G>A	ENST00000367104.3	-	2	152	c.21C>T	c.(19-21)tgC>tgT	p.C7C	SERAC1_ENST00000367101.1_Silent_p.C7C|SERAC1_ENST00000607000.1_Silent_p.C7C|SERAC1_ENST00000367102.2_Silent_p.C7C	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	7					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AACAGATGACGCAATAAGCAG	0.363																																						uc003qrc.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(19-21)tgC>tgT		Homo sapiens serine active site containing 1 (SERAC1), mRNA.							110.0	108.0	108.0					6																	158579375		2203	4300	6503	SO:0001819	synonymous_variant	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158579375G>A	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.21C>T	6.37:g.158579375G>A						SERAC1_uc003qrb.2_5'UTR	p.C7C	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	1	163	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	7					Q49AT1|Q5VTX3|Q6PKF3	Silent	SNP	ENST00000367104.3	37	c.21C>T	CCDS5255.1																																																																																				0.363	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861	
PCLO	27445	broad.mit.edu	37	7	82579939	82579939	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr7:82579939G>T	ENST00000333891.9	-	6	10302	c.9965C>A	c.(9964-9966)cCt>cAt	p.P3322H	PCLO_ENST00000423517.2_Missense_Mutation_p.P3322H|PCLO_ENST00000437081.1_Missense_Mutation_p.P42H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTTCCAGAAGGGTCATAGTT	0.478																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(9964-9966)cCt>cAt		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							135.0	124.0	128.0					7																	82579939		1940	4154	6094	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82579939G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9965C>A	7.37:g.82579939G>T	ENSP00000334319:p.Pro3322His					PCLO_uc003uhv.2_Missense_Mutation_p.P3322H|PCLO_uc010lec.3_Missense_Mutation_p.P287H	p.P3322H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	10254	-			3253						Missense_Mutation	SNP	ENST00000333891.9	37	c.9965C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664146	0.47572	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T;T	0.35421	2.07;2.07;1.31	5.29	5.29	0.74685	.	.	.	.	.	T	0.60919	0.2306	M	0.65498	2.005	0.43994	D	0.996697	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.76575	0.936;0.98;0.988	T	0.63449	-0.6635	9	0.87932	D	0	.	19.2834	0.94061	0.0:0.0:1.0:0.0	.	3253;3322;3322	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	H	3253;3322;3322;42	ENSP00000334319:P3322H;ENSP00000388393:P3322H;ENSP00000393760:P42H	ENSP00000334319:P3322H	P	-	2	0	PCLO	82417875	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	7.145000	0.77365	2.634000	0.89283	0.563000	0.77884	CCT		0.478	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
EPHB4	2050	broad.mit.edu	37	7	100411279	100411279	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr7:100411279C>T	ENST00000358173.3	-	10	2219	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E	EPHB4_ENST00000477446.1_5'Flank|EPHB4_ENST00000360620.3_Missense_Mutation_p.G584E	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	584					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCACCATGTCCGATGAGATA	0.522																																					GBM(200;2113 3072 25865 52728)	uc003uwn.1																			0		p.I583I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(1750-1752)gGa>gAa		Homo sapiens EPH receptor B4 (EPHB4), mRNA.							382.0	362.0	369.0					7																	100411279		2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100411279C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1751G>A	7.37:g.100411279C>T	ENSP00000350896:p.Gly584Glu					EPHB4_uc003uwm.1_Missense_Mutation_p.G491E|EPHB4_uc010lhj.1_Missense_Mutation_p.G584E	p.G584E	NM_004444	NP_004435	P54760	EPHB4_HUMAN			9	2242	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		584					B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.1751G>A	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500763	0.64298	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.11277	2.79;2.79	5.26	5.26	0.73747	.	0.000000	0.56097	D	0.000036	T	0.30262	0.0759	M	0.72479	2.2	0.53688	D	0.999971	D;D	0.76494	0.999;0.998	D;P	0.66084	0.941;0.907	T	0.01065	-1.1463	10	0.30854	T	0.27	.	16.3274	0.82990	0.0:1.0:0.0:0.0	.	584;584	Q96L35;P54760	.;EPHB4_HUMAN	E	584	ENSP00000353833:G584E;ENSP00000350896:G584E	ENSP00000350896:G584E	G	-	2	0	EPHB4	100249215	1.000000	0.71417	1.000000	0.80357	0.146000	0.21551	6.089000	0.71384	2.451000	0.82905	0.561000	0.74099	GGA		0.522	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444	
CADPS2	93664	broad.mit.edu	37	7	121960313	121960313	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr7:121960313C>T	ENST00000449022.2	-	30	3816	c.3797G>A	c.(3796-3798)cGt>cAt	p.R1266H	CADPS2_ENST00000412584.2_Missense_Mutation_p.R1225H|CADPS2_ENST00000334010.7_Missense_Mutation_p.R1264H|CADPS2_ENST00000313070.7_Missense_Mutation_p.R1225H	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1266					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TACTGTTAAACGTCTGTGCAC	0.433																																						uc022akp.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(3796-3798)cGt>cAt		Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.							188.0	178.0	181.0					7																	121960313		1913	4121	6034	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:121960313C>T		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.3797G>A	7.37:g.121960313C>T	ENSP00000398481:p.Arg1266His					CADPS2_uc003vkg.4_Missense_Mutation_p.R920H|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Missense_Mutation_p.R1225H|CADPS2_uc022akr.1_Missense_Mutation_p.R1266H	p.R1266H	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN			28	4219	-			1266					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.3797G>A	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.308018|5.308018	0.95629|0.95629	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000462699	T;T;T;T|.	0.35236|.	1.32;1.32;1.32;1.32|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83193|0.83193	0.5201|0.5201	M|M	0.84585|0.84585	2.705|2.705	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999|.	D;D;D;D|.	0.97110|.	0.992;1.0;0.991;0.994|.	D|D	0.84139|0.84139	0.0416|0.0416	10|5	0.87932|.	D|.	0|.	-10.5465|-10.5465	19.6777|19.6777	0.95943|0.95943	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1270;1225;1266;1220|.	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3|.	.;.;CAPS2_HUMAN;.|.	H|I	439;1225;1264;1271;1192;1225;1266|460	ENSP00000325581:R1225H;ENSP00000333940:R1264H;ENSP00000400401:R1225H;ENSP00000398481:R1266H|.	ENSP00000325581:R1225H|.	R|V	-|-	2|1	0|0	CADPS2|CADPS2	121747549|121747549	1.000000|1.000000	0.71417|0.71417	0.907000|0.907000	0.35723|0.35723	0.986000|0.986000	0.74619|0.74619	7.487000|7.487000	0.81328|0.81328	2.669000|2.669000	0.90835|0.90835	0.650000|0.650000	0.86243|0.86243	CGT|GTT		0.433	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954	
FREM1	158326	broad.mit.edu	37	9	14824887	14824887	+	Missense_Mutation	SNP	G	G	C	rs376703044		TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr9:14824887G>C	ENST00000380880.3	-	11	2768	c.1985C>G	c.(1984-1986)aCt>aGt	p.T662S	FREM1_ENST00000422223.2_Missense_Mutation_p.T662S|FREM1_ENST00000380881.4_Missense_Mutation_p.T663S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	662					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTGTTTCTTAGTTATATAGGC	0.428																																						uc003zlm.3																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1984-1986)aCt>aGt		Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.		G	SER/THR	1,3673		0,1,1836	83.0	78.0	79.0		1985	5.0	1.0	9		79	0,8168		0,0,4084	no	missense	FREM1	NM_144966.5	58	0,1,5920	CC,CG,GG		0.0,0.0272,0.0084	probably-damaging	662/2180	14824887	1,11841	1837	4084	5921	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14824887G>C	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1985C>G	9.37:g.14824887G>C	ENSP00000370262:p.Thr662Ser					FREM1_uc010mic.3_Non-coding_Transcript	p.T662S	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	11	2801	-			662					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1985C>G	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466436	0.84425	2.72E-4	0.0	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.47869	0.83;0.83;0.83	5.92	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.63850	0.2546	M	0.72353	2.195	0.54753	D	0.999989	D	0.63880	0.993	D	0.64776	0.929	T	0.56896	-0.7903	10	0.13470	T	0.59	-15.2501	17.2178	0.86949	0.0:0.1253:0.8747:0.0	.	662	Q5H8C1	FREM1_HUMAN	S	663;662;662	ENSP00000370263:T663S;ENSP00000412940:T662S;ENSP00000370262:T662S	ENSP00000370257:T665S	T	-	2	0	FREM1	14814887	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.632000	0.83247	2.809000	0.96659	0.655000	0.94253	ACT		0.428	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
CRB2	286204	broad.mit.edu	37	9	126136965	126136965	+	Missense_Mutation	SNP	C	C	T	rs368751851		TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr9:126136965C>T	ENST00000373631.3	+	11	3498	c.3497C>T	c.(3496-3498)gCt>gTt	p.A1166V	CRB2_ENST00000373629.2_Missense_Mutation_p.A834V	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	1166	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GAGGGTCTTGCTGGCCAGAGG	0.657																																						uc004bnx.1																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(3496-3498)gCt>gTt		Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.							36.0	33.0	34.0					9																	126136965		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126136965C>T	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.3497C>T	9.37:g.126136965C>T	ENSP00000362734:p.Ala1166Val						p.A1166V	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN			10	3589	+			1166			EGF-like 14.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.3497C>T	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	.	17.08	3.297281	0.60086	.	.	ENSG00000148204	ENST00000373631;ENST00000373629	D;D	0.90324	-1.89;-2.65	5.22	4.32	0.51571	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.157098	0.29964	N	0.010745	D	0.84687	0.5527	L	0.47716	1.5	0.33263	D	0.559979	B	0.30741	0.293	B	0.22753	0.041	D	0.84563	0.0651	10	0.33141	T	0.24	.	9.4183	0.38534	0.0:0.7807:0.1434:0.0759	.	1166	Q5IJ48	CRUM2_HUMAN	V	1166;834	ENSP00000362734:A1166V;ENSP00000362732:A834V	ENSP00000362732:A834V	A	+	2	0	CRB2	125176786	0.964000	0.33143	0.961000	0.40146	0.856000	0.48823	1.865000	0.39479	1.196000	0.43129	0.561000	0.74099	GCT		0.657	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689	
GATA1	2623	broad.mit.edu	37	X	48650419	48650419	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chrX:48650419C>A	ENST00000376670.3	+	3	500	c.389C>A	c.(388-390)aCc>aAc	p.T130N	GATA1_ENST00000376665.3_Missense_Mutation_p.T130N	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	130					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						AAAGGCAGCACCAGCTTCCTG	0.602			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)	uc004dkq.4				Dom	yes		X	Xp11.23	2623	"""Mis, F"""	GATA binding protein 1 (globin transcription factor 1)			L			megakaryoblastic leukemia of Downs Syndrome		2	Unknown(2)	p.?(2)|p.V74_C199del(1)|p.S129R(1)	haematopoietic_and_lymphoid_tissue(2)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						c.(388-390)aCc>aAc		Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1), mRNA.							60.0	50.0	53.0					X																	48650419		2203	4300	6503	SO:0001583	missense	2623				basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:48650419C>A	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.389C>A	X.37:g.48650419C>A	ENSP00000365858:p.Thr130Asn						p.T130N	NM_002049	NP_002040	P15976	GATA1_HUMAN			2	480	+			130					Q96GB8	Missense_Mutation	SNP	ENST00000376670.3	37	c.389C>A	CCDS14305.1	.	.	.	.	.	.	.	.	.	.	C	9.673	1.147325	0.21288	.	.	ENSG00000102145	ENST00000376670;ENST00000376665	D;D	0.97352	-4.35;-4.14	4.6	-1.76	0.08006	.	0.776543	0.11799	N	0.528390	D	0.87394	0.6166	N	0.02011	-0.69	0.18873	N	0.999984	B	0.02656	0.0	B	0.01281	0.0	T	0.79247	-0.1882	10	0.23302	T	0.38	-2.0192	8.4461	0.32843	0.2054:0.3812:0.4133:0.0	.	130	P15976	GATA1_HUMAN	N	130	ENSP00000365858:T130N;ENSP00000365853:T130N	ENSP00000365853:T130N	T	+	2	0	GATA1	48535363	1.000000	0.71417	0.262000	0.24481	0.978000	0.69477	1.738000	0.38207	-0.378000	0.07918	0.492000	0.49549	ACC		0.602	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049	
ACTRT1	139741	broad.mit.edu	37	X	127185485	127185485	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chrX:127185485C>T	ENST00000371124.3	-	1	897	c.701G>A	c.(700-702)cGg>cAg	p.R234Q		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	234						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GACCTCTCCCCGGCTCTTGCG	0.507																																						uc004eum.3																			0		p.S233I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(700-702)cGg>cAg		Homo sapiens actin-related protein T1 (ACTRT1), mRNA.							129.0	119.0	122.0					X																	127185485		2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185485C>T	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.701G>A	X.37:g.127185485C>T	ENSP00000360165:p.Arg234Gln						p.R234Q	NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN			0	898	-			234					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.701G>A	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	C	4.514	0.095462	0.08681	.	.	ENSG00000123165	ENST00000371124	D	0.94232	-3.38	3.58	-3.31	0.04988	.	0.735368	0.11768	N	0.531391	D	0.83298	0.5224	N	0.17564	0.495	0.09310	N	1	P	0.34815	0.47	B	0.33196	0.159	T	0.73824	-0.3861	10	0.87932	D	0	.	5.0212	0.14361	0.1903:0.5559:0.1447:0.1091	.	234	Q8TDG2	ACTT1_HUMAN	Q	234	ENSP00000360165:R234Q	ENSP00000360165:R234Q	R	-	2	0	ACTRT1	127013166	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.051000	0.14141	-1.044000	0.03254	-0.973000	0.02599	CGG		0.507	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289	
