#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
THEG	51298	broad.mit.edu	37	19	367082	367082	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr19:367082C>T	ENST00000342640.4	-	7	938	c.896G>A	c.(895-897)cGc>cAc	p.R299H	THEG_ENST00000346878.2_Missense_Mutation_p.R275H	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	299					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAAGGAGGCGGTTATGGTC	0.572																																						ENST00000342640.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(895-897)cGc>cAc		theg spermatid protein							185.0	176.0	179.0					19																	367082		2203	4300	6503	SO:0001583	missense	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:367082C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.896G>A	19.37:g.367082C>T	ENSP00000340088:p.Arg299His					THEG_ENST00000346878.2_Missense_Mutation_p.R275H	p.R299H	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	938	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	299					A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	c.896G>A	CCDS12025.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.36|12.36	1.914457|1.914457	0.33815|0.33815	.|.	.|.	ENSG00000105549|ENSG00000105549	ENST00000530711|ENST00000342640;ENST00000346878	.|T;T	.|0.71698	.|-0.59;-0.59	3.32|3.32	3.32|3.32	0.38043|0.38043	.|.	.|0.000000	.|0.47852	.|D	.|0.000203	T|T	0.81791|0.81791	0.4897|0.4897	M|M	0.77313|0.77313	2.365|2.365	0.24662|0.24662	N|N	0.993465|0.993465	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.997;0.998	T|T	0.71626|0.71626	-0.4536|-0.4536	6|10	0.87932|0.87932	D|D	0|0	-10.0035|-10.0035	10.4202|10.4202	0.44346|0.44346	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|275;299	.|Q9P2T0-2;Q9P2T0	.|.;THEG_HUMAN	T|H	77|299;275	.|ENSP00000340088:R299H;ENSP00000264820:R275H	ENSP00000431699:A77T|ENSP00000340088:R299H	A|R	-|-	1|2	0|0	THEG|THEG	318082|318082	0.979000|0.979000	0.34478|0.34478	0.254000|0.254000	0.24359|0.24359	0.135000|0.135000	0.20990|0.20990	2.551000|2.551000	0.45820|0.45820	2.149000|2.149000	0.67028|0.67028	0.555000|0.555000	0.69702|0.69702	GCC|CGC		0.572	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			41	114	0	0	0	1	0	41	114				
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	290	Pro-rich.							p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562																																						ENST00000360151.4																			2	Substitution - Missense(2)	p.L290F(2)	kidney(2)								c.(868-870)Ctc>Ttc		nuclear pore complex interacting protein family, member A5																																				SO:0001583	missense	100288332							g.chr16:15457701G>A		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.868C>T	16.37:g.15457701G>A	ENSP00000433597:p.Leu290Phe						p.L290F	NM_001277325.1	NP_001264254.1					8	867	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.868C>T	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	4.044	0.005714	0.07866	.	.	ENSG00000183793	ENST00000360151	T	0.56275	0.47	.	.	.	.	.	.	.	.	T	0.52338	0.1728	M	0.62723	1.935	0.09310	N	1	.	.	.	.	.	.	T	0.44742	-0.9308	4	0.36615	T	0.2	.	.	.	.	.	.	.	.	F	290	ENSP00000433597:L290F	ENSP00000433597:L290F	L	-	1	0	RP11-82O18.1	15365202	.	.	.	.	.	.	.	.	.	.	.	.	CTC		0.562	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			4	109	0	0	0	1	0	4	109				
CPNE9	151835	broad.mit.edu	37	3	9754444	9754444	+	Silent	SNP	G	G	A	rs375304283		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr3:9754444G>A	ENST00000383832.3	+	9	667	c.477G>A	c.(475-477)ctG>ctA	p.L159L	CPNE9_ENST00000383831.3_Silent_p.L159L	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	159	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CAAACAAGCTGGACAAGAAGG	0.517																																						ENST00000383832.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(475-477)ctG>ctA		copine family member IX							130.0	142.0	138.0					3																	9754444		2184	4300	6484	SO:0001819	synonymous_variant	151835							g.chr3:9754444G>A		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.477G>A	3.37:g.9754444G>A						CPNE9_ENST00000383831.3_Silent_p.L159L	p.L159L	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN			9	667	+	Medulloblastoma(99;0.227)		159			C2 2.		A1L430|A6NDX6|A8MSP8	Silent	SNP	ENST00000383832.3	37	c.477G>A	CCDS2574.2																																																																																				0.517	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		43	98	0	0	0	1	0	43	98				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228R|AGAP10_ENST00000355232.3_Splice_Site_p.H157R			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	3	13	0	0	0	1	0	3	13				
PTEN	5728	broad.mit.edu	37	10	89717661	89717661	+	Nonsense_Mutation	SNP	C	C	G			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr10:89717661C>G	ENST00000371953.3	+	7	2043	c.686C>G	c.(685-687)tCa>tGa	p.S229*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	229	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				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.S229*(6)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(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)		TCCTCCAATTCAGGACCCACA	0.423		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)																												ENST00000371953.3		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"""		54	Whole gene deletion(37)|Deletion - Frameshift(9)|Substitution - Nonsense(6)|Deletion - In frame(1)|Unknown(1)	p.0?(37)|p.S229*(6)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)	prostate(16)|central_nervous_system(15)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(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.(685-687)tCa>tGa		phosphatase and tensin homolog							149.0	129.0	136.0					10																	89717661		2203	4300	6503	SO:0001587	stop_gained	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.chr10:89717661C>G	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.686C>G	10.37:g.89717661C>G	ENSP00000361021:p.Ser229*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.S229*	NM_000314.4	NP_000305.3	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)	7	2043	+		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)	229			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.686C>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	49	15.460257	0.99834	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.48	5.48	0.80851	.	0.183008	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.118	19.3305	0.94285	0.0:1.0:0.0:0.0	.	.	.	.	X	229	.	.	S	+	2	0	PTEN	89707641	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.724000	0.68500	2.571000	0.86741	0.585000	0.79938	TCA		0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		12	96	0	0	0	1	0	12	96				
TBC1D22B	55633	broad.mit.edu	37	6	37298922	37298922	+	Missense_Mutation	SNP	G	G	A	rs371136817		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr6:37298922G>A	ENST00000373491.3	+	13	1638	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	498							Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CATGTTTGCCGATGCCCCAAA	0.547																																						ENST00000373491.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15						c.(1492-1494)Gat>Aat		TBC1 domain family, member 22B		G	ASN/ASP	0,4406		0,0,2203	125.0	111.0	116.0		1492	5.1	0.5	6		116	1,8599	1.2+/-3.3	0,1,4299	no	missense	TBC1D22B	NM_017772.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	498/506	37298922	1,13005	2203	4300	6503	SO:0001583	missense	55633					intracellular	Rab GTPase activator activity	g.chr6:37298922G>A	AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 197"""	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.1492G>A	6.37:g.37298922G>A	ENSP00000362590:p.Asp498Asn						p.D498N	NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		13	1638	+			498					A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Missense_Mutation	SNP	ENST00000373491.3	37	c.1492G>A	CCDS4832.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550645	0.86127	0.0	1.16E-4	ENSG00000065491	ENST00000373491	T	0.15017	2.46	5.93	5.07	0.68467	.	0.051440	0.85682	N	0.000000	T	0.06280	0.0162	L	0.42529	1.33	0.80722	D	1	P	0.38642	0.641	B	0.30495	0.116	T	0.21348	-1.0248	10	0.25751	T	0.34	.	13.9203	0.63928	0.0738:0.0:0.9262:0.0	.	498	Q9NU19	TB22B_HUMAN	N	498	ENSP00000362590:D498N	ENSP00000362590:D498N	D	+	1	0	TBC1D22B	37406900	1.000000	0.71417	0.473000	0.27253	0.988000	0.76386	9.398000	0.97281	1.518000	0.48934	0.655000	0.94253	GAT		0.547	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040402.1	NM_017772		4	114	0	0	0	1	0	4	114				
DUXAP8	503637	broad.mit.edu	37	22	16150968	16150968	+	RNA	SNP	C	C	T	rs539153730	byFrequency	TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr22:16150968C>T	ENST00000447898.1	-	0	1146																											CAAATTTGGACTCTTGACTCT	0.403													C|||	86	0.0171725	0.0408	0.013	5008	,	,		29717	0.001		0.008	False		,,,				2504	0.0143					ENST00000447898.1																			0																																																			0							g.chr22:16150968C>T																													22.37:g.16150968C>T														0	1146	-									RNA	SNP	ENST00000447898.1	37																																																																																						0.403	AP000525.9-002	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000276780.1			3	17	0	0	0	1	0	3	17				
PPL	5493	broad.mit.edu	37	16	4934534	4934534	+	Silent	SNP	G	G	A			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr16:4934534G>A	ENST00000345988.2	-	22	4211	c.4122C>T	c.(4120-4122)agC>agT	p.S1374S	PPL_ENST00000590782.2_Silent_p.S1372S	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1374					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCACATCGATGCTCTCGGCAA	0.677																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(4120-4122)agC>agT		periplakin							87.0	94.0	91.0					16																	4934534		2197	4300	6497	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934534G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4122C>T	16.37:g.4934534G>A						PPL_ENST00000590782.2_Silent_p.S1372S	p.S1374S	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	4211	-			1374					O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.4122C>T	CCDS10526.1																																																																																				0.677	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		5	206	0	0	0	1	0	5	206				
FRG1B	284802	broad.mit.edu	37	20	29628287	29628287	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr20:29628287A>G	ENST00000278882.3	+	6	669	c.289A>G	c.(289-291)Ata>Gta	p.I97V	FRG1B_ENST00000439954.2_Missense_Mutation_p.I102V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I97V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	97										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGCAGGGGACATAGAAGCAAA	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(289-291)Ata>Gta																																						SO:0001583	missense	0							g.chr20:29628287A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.289A>G	20.37:g.29628287A>G	ENSP00000278882:p.Ile97Val					FRG1B_ENST00000439954.2_Missense_Mutation_p.I102V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I97V	p.I97V							6	669	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.289A>G		.	.	.	.	.	.	.	.	.	.	a	9.415	1.081462	0.20309	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.45276	0.9	2.08	2.08	0.27032	Actin cross-linking (1);	0.047531	0.85682	D	0.000000	T	0.22936	0.0554	.	.	.	0.37145	D	0.901878	B;B	0.15719	0.004;0.014	B;B	0.24848	0.054;0.056	T	0.07888	-1.0749	9	0.16420	T	0.52	.	4.3671	0.11230	0.7011:0.0:0.0:0.2989	.	102;97	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	97;102;97	ENSP00000408863:I102V	ENSP00000278882:I97V	I	+	1	0	FRG1B	28241948	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.107000	0.71517	1.208000	0.43306	0.347000	0.21830	ATA		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	130	0	0	0	1	0	6	130				
ASTN2	23245	broad.mit.edu	37	9	119249746	119249746	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr9:119249746G>C	ENST00000313400.4	-	20	3489	c.3389C>G	c.(3388-3390)tCt>tGt	p.S1130C	ASTN2_ENST00000341734.4_Missense_Mutation_p.S182C|ASTN2_ENST00000361209.2_Missense_Mutation_p.S1079C|ASTN2_ENST00000361477.3_Missense_Mutation_p.S182C|ASTN2_ENST00000373996.3_Missense_Mutation_p.S1126C|ASTN2_ENST00000288520.5_Missense_Mutation_p.S231C			O75129	ASTN2_HUMAN	astrotactin 2	1130	Fibronectin type-III.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCCCAGGCCAGAGAGTAAGTC	0.512																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(3388-3390)tCt>tGt		astrotactin 2							70.0	68.0	69.0					9																	119249746		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119249746G>C	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3389C>G	9.37:g.119249746G>C	ENSP00000314038:p.Ser1130Cys					ASTN2_ENST00000361477.3_Missense_Mutation_p.S182C|ASTN2_ENST00000373996.3_Missense_Mutation_p.S1126C|ASTN2_ENST00000288520.5_Missense_Mutation_p.S231C|ASTN2_ENST00000361209.2_Missense_Mutation_p.S1079C|ASTN2_ENST00000341734.4_Missense_Mutation_p.S182C	p.S1130C			O75129	ASTN2_HUMAN			20	3489	-			1130			Fibronectin type-III.		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.3389C>G		.	.	.	.	.	.	.	.	.	.	G	18.73	3.686137	0.68157	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477	T;T;T;T;T;T;T	0.19532	2.56;2.56;2.14;2.17;2.39;2.6;2.17	5.49	5.49	0.81192	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.40272	0.1110	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0;0.999;0.999	D;D;D;D;D;D;D	0.85130	0.993;0.993;0.997;0.993;0.997;0.993;0.993	T	0.13818	-1.0495	10	0.72032	D	0.01	-13.8768	19.7347	0.96198	0.0:0.0:1.0:0.0	.	182;182;1079;1130;1126;182;231	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;ASTN2_HUMAN;.;.;.	C	1130;1126;231;182;853;1079;182	ENSP00000314038:S1130C;ENSP00000363108:S1126C;ENSP00000288520:S231C;ENSP00000339925:S182C;ENSP00000363098:S853C;ENSP00000354504:S1079C;ENSP00000355116:S182C	ENSP00000288520:S231C	S	-	2	0	ASTN2	118289567	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.184000	0.94893	2.746000	0.94184	0.655000	0.94253	TCT		0.512	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		22	39	0	0	0	1	0	22	39				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	22	0	0	0	1	0	4	22				
CD300LD	100131439	broad.mit.edu	37	17	72576247	72576247	+	Missense_Mutation	SNP	G	G	A	rs201880339		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr17:72576247G>A	ENST00000375352.1	-	4	559	c.479C>T	c.(478-480)cCg>cTg	p.P160L		NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	160					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						GCTCTTGAGCGGGGACCTGTG	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		17952	0.0		0.001	False		,,,				2504	0.0					ENST00000375352.1																			0				large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						c.(478-480)cCg>cTg		CD300 molecule-like family member d		G	LEU/PRO	0,3136		0,0,1568	42.0	42.0	42.0		479	-0.4	0.3	17		42	1,7163		0,1,3581	no	missense	CD300LD	NM_001115152.1	98	0,1,5149	AA,AG,GG		0.014,0.0,0.0097	benign	160/195	72576247	1,10299	1568	3582	5150	SO:0001583	missense	100131439					integral to membrane|plasma membrane	receptor activity	g.chr17:72576247G>A		CCDS42379.1	17q25.1	2014-05-15			ENSG00000204345	ENSG00000204345		"""Immunoglobulin superfamily / V-set domain containing"""	16848	protein-coding gene	gene with protein product						22291008	Standard	NM_001115152		Approved	CMRF35A4, CD300D	uc002jkz.2	Q6UXZ3	OTTHUMG00000067614	ENST00000375352.1:c.479C>T	17.37:g.72576247G>A	ENSP00000364501:p.Pro160Leu						p.P160L	NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN			4	559	-			160						Missense_Mutation	SNP	ENST00000375352.1	37	c.479C>T	CCDS42379.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	0.015	-1.547783	0.00926	0.0	1.4E-4	ENSG00000204345	ENST00000375352	T	0.03607	3.87	3.36	-0.452	0.12205	.	2.080600	0.03257	N	0.182736	T	0.00998	0.0033	N	0.00313	-1.665	0.20489	N	0.999891	B	0.02656	0.0	B	0.01281	0.0	T	0.43750	-0.9372	10	0.11182	T	0.66	.	0.7501	0.00989	0.472:0.2072:0.1202:0.2006	.	160	Q6UXZ3	CLM4_HUMAN	L	160	ENSP00000364501:P160L	ENSP00000364501:P160L	P	-	2	0	CD300LD	70087842	0.046000	0.20272	0.265000	0.24526	0.001000	0.01503	0.078000	0.14761	-0.104000	0.12154	-1.486000	0.00981	CCG		0.572	CD300LD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145099.1	NM_001115152		3	13	0	0	0	1	0	3	13				
ZNF175	7728	broad.mit.edu	37	19	52090031	52090031	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr19:52090031G>T	ENST00000262259.2	+	5	805	c.447G>T	c.(445-447)gaG>gaT	p.E149D	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	149					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		AGAAAGATGAGCAAAATCAAA	0.393																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(445-447)gaG>gaT		zinc finger protein 175							86.0	83.0	84.0					19																	52090031		2203	4300	6503	SO:0001583	missense	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52090031G>T	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.447G>T	19.37:g.52090031G>T	ENSP00000262259:p.Glu149Asp					ZNF175_ENST00000436511.2_Intron	p.E149D	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	805	+		all_neural(266;0.0299)	149					A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	c.447G>T	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	G	5.414	0.261596	0.10239	.	.	ENSG00000105497	ENST00000262259	T	0.07327	3.2	2.2	-1.26	0.09376	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	B	0.22276	0.067	B	0.12156	0.007	T	0.41502	-0.9505	9	0.40728	T	0.16	.	3.3351	0.07098	0.2654:0.0:0.5309:0.2037	.	149	Q9Y473	ZN175_HUMAN	D	149	ENSP00000262259:E149D	ENSP00000262259:E149D	E	+	3	2	ZNF175	56781843	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.189000	0.17037	-0.208000	0.10171	-0.136000	0.14681	GAG		0.393	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		3	37	1	0	0.115264	1	0.117665	3	37				
CUBN	8029	broad.mit.edu	37	10	17142012	17142012	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr10:17142012T>C	ENST00000377833.4	-	14	1822	c.1757A>G	c.(1756-1758)cAg>cGg	p.Q586R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	586	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCTGGTTGCTGTGTTTCCCA	0.378																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(1756-1758)cAg>cGg		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						118.0	115.0	116.0					10																	17142012		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17142012T>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1757A>G	10.37:g.17142012T>C	ENSP00000367064:p.Gln586Arg						p.Q586R	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			14	1822	-			586			CUB 1.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.1757A>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	6.449	0.450961	0.12223	.	.	ENSG00000107611	ENST00000377833	T	0.74842	-0.88	5.51	4.38	0.52667	CUB (4);	0.177734	0.27172	N	0.020584	T	0.58380	0.2118	L	0.38175	1.15	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.50224	-0.8853	10	0.09084	T	0.74	.	8.1293	0.31018	0.0:0.2096:0.0:0.7904	.	586	O60494	CUBN_HUMAN	R	586	ENSP00000367064:Q586R	ENSP00000367064:Q586R	Q	-	2	0	CUBN	17182018	0.429000	0.25530	0.997000	0.53966	0.896000	0.52359	0.723000	0.25939	2.091000	0.63221	0.528000	0.53228	CAG		0.378	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		44	130	0	0	0	1	0	44	130				
UBP1	7342	broad.mit.edu	37	3	33450750	33450750	+	Missense_Mutation	SNP	T	T	C	rs188688575		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr3:33450750T>C	ENST00000283629.3	-	7	1326	c.797A>G	c.(796-798)tAt>tGt	p.Y266C	UBP1_ENST00000283628.5_Missense_Mutation_p.Y266C|UBP1_ENST00000486388.1_5'Flank|UBP1_ENST00000447368.2_Missense_Mutation_p.Y266C	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	266					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TGTGGTATCATAGGACGGCTG	0.383													T|||	1	0.000199681	0.0008	0.0	5008	,	,		19781	0.0		0.0	False		,,,				2504	0.0					ENST00000283629.3																			0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(796-798)tAt>tGt		upstream binding protein 1 (LBP-1a)		T	CYS/TYR,CYS/TYR,CYS/TYR	0,4406		0,0,2203	277.0	270.0	272.0		797,797,797	5.9	1.0	3		272	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	UBP1	NM_014517.4,NM_001128161.1,NM_001128160.1	194,194,194	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign,benign	266/541,266/541,266/505	33450750	1,13005	2203	4300	6503	SO:0001583	missense	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33450750T>C	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.797A>G	3.37:g.33450750T>C	ENSP00000283629:p.Tyr266Cys					UBP1_ENST00000283628.5_Missense_Mutation_p.Y266C|UBP1_ENST00000447368.2_Missense_Mutation_p.Y266C	p.Y266C	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN			7	1326	-			266					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	c.797A>G	CCDS2659.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	15.48	2.845008	0.51164	0.0	1.16E-4	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628	T;T;T	0.19105	2.17;2.2;2.17	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.33206	0.0855	L	0.41236	1.265	0.80722	D	1	D;B	0.76494	0.999;0.059	D;B	0.65874	0.939;0.067	T	0.02184	-1.1199	10	0.32370	T	0.25	-6.2997	11.6181	0.51102	0.1327:0.0:0.0:0.8673	.	266;266	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	C	266	ENSP00000283629:Y266C;ENSP00000395558:Y266C;ENSP00000283628:Y266C	ENSP00000283628:Y266C	Y	-	2	0	UBP1	33425754	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.292000	0.72725	2.367000	0.80283	0.528000	0.53228	TAT		0.383	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		44	127	0	0	0	1	0	44	127				
ADCY4	196883	broad.mit.edu	37	14	24791834	24791834	+	Missense_Mutation	SNP	C	C	T	rs572851950		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr14:24791834C>T	ENST00000310677.4	-	20	2536	c.2423G>A	c.(2422-2424)cGc>cAc	p.R808H	ADCY4_ENST00000554068.2_Missense_Mutation_p.R808H|ADCY4_ENST00000418030.2_Missense_Mutation_p.R808H	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	808					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ACTTACCTGGCGAGCCAGGAC	0.557																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2422-2424)cGc>cAc		adenylate cyclase 4							87.0	85.0	86.0					14																	24791834		2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24791834C>T	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2423G>A	14.37:g.24791834C>T	ENSP00000312126:p.Arg808His					ADCY4_ENST00000418030.2_Missense_Mutation_p.R808H|ADCY4_ENST00000554068.2_Missense_Mutation_p.R808H	p.R808H	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	20	2536	-			808					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.2423G>A	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791991	0.90453	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.80824	-1.42;-1.42;-1.42	4.55	4.55	0.56014	.	0.000000	0.39475	N	0.001354	D	0.88496	0.6452	M	0.86953	2.85	0.80722	D	1	D	0.76494	0.999	P	0.56751	0.805	D	0.90467	0.4450	10	0.62326	D	0.03	.	14.8366	0.70190	0.0:1.0:0.0:0.0	.	808	Q8NFM4	ADCY4_HUMAN	H	808	ENSP00000312126:R808H;ENSP00000452250:R808H;ENSP00000393177:R808H	ENSP00000312126:R808H	R	-	2	0	ADCY4	23861674	0.425000	0.25498	1.000000	0.80357	0.983000	0.72400	4.523000	0.60545	2.372000	0.80975	0.563000	0.77884	CGC		0.557	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			14	21	0	0	0	1	0	14	21				
CWF19L1	55280	broad.mit.edu	37	10	101996663	101996663	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr10:101996663C>A	ENST00000354105.4	-	12	1404	c.1318G>T	c.(1318-1320)Gca>Tca	p.A440S	CWF19L1_ENST00000478047.1_5'UTR|RP11-316M21.6_ENST00000444359.1_RNA|SNORA12_ENST00000391162.1_RNA|CWF19L1_ENST00000370379.1_Intron	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	440							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		TGCTCCTGTGCCTGGGTAATG	0.483																																						ENST00000354105.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17						c.(1318-1320)Gca>Tca		CWF19-like 1, cell cycle control (S. pombe)							202.0	188.0	192.0					10																	101996663		2203	4300	6503	SO:0001583	missense	55280						catalytic activity	g.chr10:101996663C>A	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1318G>T	10.37:g.101996663C>A	ENSP00000326411:p.Ala440Ser					CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Intron	p.A440S	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)	12	1404	-		Colorectal(252;0.117)	440					B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	ENST00000354105.4	37	c.1318G>T	CCDS7489.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709800	0.89018	.	.	ENSG00000095485	ENST00000354105	T	0.21191	2.02	5.28	5.28	0.74379	Histidine triad motif (1);	0.000000	0.85682	D	0.000000	T	0.29126	0.0724	L	0.43598	1.365	0.80722	D	1	D;P	0.54397	0.966;0.926	P;P	0.51266	0.664;0.615	T	0.00773	-1.1572	10	0.37606	T	0.19	-12.2848	16.4131	0.83725	0.0:1.0:0.0:0.0	.	144;440	Q69YN2-2;Q69YN2	.;C19L1_HUMAN	S	440	ENSP00000326411:A440S	ENSP00000326411:A440S	A	-	1	0	CWF19L1	101986653	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.484000	0.81180	2.471000	0.83476	0.655000	0.94253	GCA		0.483	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		4	172	1	0	0.150653	1	0.150653	4	172				
GUCY2C	2984	broad.mit.edu	37	12	14804947	14804947	+	Silent	SNP	A	A	G			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr12:14804947A>G	ENST00000261170.3	-	14	1687	c.1551T>C	c.(1549-1551)gaT>gaC	p.D517D		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	517	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TGTGCTTGAGATCTTTGAGAA	0.348																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(1549-1551)gaT>gaC		guanylate cyclase 2C (heat stable enterotoxin receptor)							202.0	184.0	190.0					12																	14804947		2201	4299	6500	SO:0001819	synonymous_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14804947A>G		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1551T>C	12.37:g.14804947A>G							p.D517D	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			14	1687	-			517			Protein kinase.		B2RMY6	Silent	SNP	ENST00000261170.3	37	c.1551T>C	CCDS8664.1																																																																																				0.348	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			19	55	0	0	0	1	0	19	55				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			19	32	0	0	0	1	0	19	32				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						ENST00000333822.4																			4	Substitution - Missense(4)	p.C95S(4)	endometrium(3)|kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(283-285)Tgc>Agc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	339	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		6	40	0	0	0	1	0	6	40				
CNOT4	4850	broad.mit.edu	37	7	135078909	135078909	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr7:135078909T>C	ENST00000315544.5	-	10	1667	c.1388A>G	c.(1387-1389)aAt>aGt	p.N463S	CNOT4_ENST00000428680.2_Missense_Mutation_p.N460S|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000423368.2_Missense_Mutation_p.N463S|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000541284.1_Missense_Mutation_p.N463S|CNOT4_ENST00000451834.1_Missense_Mutation_p.N460S|CNOT4_ENST00000361528.4_Missense_Mutation_p.N460S	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	463					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ATTGAGAGAATTGGCATTTGT	0.502																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(1378-1380)aAt>aGt		CCR4-NOT transcription complex, subunit 4							124.0	128.0	127.0					7																	135078909		1963	4170	6133	SO:0001583	missense	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135078909T>C	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1388A>G	7.37:g.135078909T>C	ENSP00000326731:p.Asn463Ser					CNOT4_ENST00000361528.4_Missense_Mutation_p.N460S|CNOT4_ENST00000423368.2_Missense_Mutation_p.N463S|CNOT4_ENST00000451834.1_Missense_Mutation_p.N460S|CNOT4_ENST00000315544.5_Missense_Mutation_p.N463S|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000541284.1_Missense_Mutation_p.N463S	p.N460S	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN			10	1658	-			463					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	c.1379A>G	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.519633	0.44866	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000428680;ENST00000315544	T;T;T;T;T;T	0.45276	0.9;0.9;0.93;0.93;0.91;0.91	6.17	6.17	0.99709	.	0.044381	0.85682	D	0.000000	T	0.28699	0.0711	N	0.19112	0.55	0.53688	D	0.999973	B;B;B;P;P;P	0.35872	0.001;0.001;0.39;0.525;0.525;0.525	B;B;B;B;B;B	0.35353	0.001;0.001;0.099;0.201;0.156;0.156	T	0.09818	-1.0657	10	0.10902	T	0.67	-15.4612	16.0034	0.80327	0.0:0.0:0.0:1.0	.	460;463;463;460;463;460	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	S	463;460;463;463;460;460;463	ENSP00000445508:N463S;ENSP00000388491:N460S;ENSP00000406777:N463S;ENSP00000354673:N460S;ENSP00000399108:N460S;ENSP00000326731:N463S	ENSP00000262563:N463S	N	-	2	0	CNOT4	134729449	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.510000	0.60455	2.371000	0.80710	0.533000	0.62120	AAT		0.502	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		28	70	0	0	0	1	0	28	70				
JARID2	3720	broad.mit.edu	37	6	15374364	15374364	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr6:15374364T>G	ENST00000341776.2	+	2	306	c.62T>G	c.(61-63)aTt>aGt	p.I21S	JARID2_ENST00000397311.3_De_novo_Start_InFrame	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	21					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGTGATGGGATTCCGTGGTCA	0.413																																						ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(61-63)aTt>aGt		jumonji, AT rich interactive domain 2							217.0	208.0	211.0					6																	15374364		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15374364T>G	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.62T>G	6.37:g.15374364T>G	ENSP00000341280:p.Ile21Ser					JARID2_ENST00000397311.3_De_novo_Start_InFrame	p.I21S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			2	306	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	21					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.62T>G	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.302380	0.81136	.	.	ENSG00000008083	ENST00000341776	T	0.53206	0.63	5.14	5.14	0.70334	.	0.052610	0.85682	D	0.000000	T	0.38108	0.1028	L	0.53249	1.67	0.80722	D	1	P	0.47762	0.9	P	0.44811	0.461	T	0.45527	-0.9255	10	0.87932	D	0	-7.3088	14.9919	0.71396	0.0:0.0:0.0:1.0	.	21	Q92833	JARD2_HUMAN	S	21	ENSP00000341280:I21S	ENSP00000341280:I21S	I	+	2	0	JARID2	15482343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	1.938000	0.56188	0.533000	0.62120	ATT		0.413	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		78	168	0	0	0	1	0	78	168				
SLC35F1	222553	broad.mit.edu	37	6	118606389	118606389	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr6:118606389A>G	ENST00000360388.4	+	7	1091	c.890A>G	c.(889-891)tAc>tGc	p.Y297C		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	297					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTTGGTCTCTACAGCTTTATG	0.507											OREG0017635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(889-891)tAc>tGc		solute carrier family 35, member F1							279.0	267.0	271.0					6																	118606389		2203	4300	6503	SO:0001583	missense	222553				transport	integral to membrane		g.chr6:118606389A>G	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.890A>G	6.37:g.118606389A>G	ENSP00000353557:p.Tyr297Cys		OREG0017635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1489		p.Y297C	NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	7	1091	+			297					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	c.890A>G	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.367832	0.82463	.	.	ENSG00000196376	ENST00000360388	.	.	.	4.82	4.82	0.62117	.	0.135690	0.51477	D	0.000096	T	0.76969	0.4062	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81355	-0.0970	9	0.66056	D	0.02	.	14.8419	0.70233	1.0:0.0:0.0:0.0	.	297	Q5T1Q4	S35F1_HUMAN	C	297	.	ENSP00000353557:Y297C	Y	+	2	0	SLC35F1	118713082	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.087000	0.94110	2.154000	0.67381	0.533000	0.62120	TAC		0.507	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		75	176	0	0	0	1	0	75	176				
GSN	2934	broad.mit.edu	37	9	124080948	124080948	+	Silent	SNP	G	G	A	rs145170518		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr9:124080948G>A	ENST00000373818.4	+	9	1203	c.1134G>A	c.(1132-1134)tcG>tcA	p.S378S	GSN_ENST00000373807.1_Silent_p.S109S|GSN_ENST00000436847.1_Silent_p.S338S|GSN_ENST00000373808.2_Silent_p.S327S|GSN_ENST00000449733.1_Silent_p.S327S|GSN_ENST00000412819.1_Silent_p.S327S|GSN_ENST00000341272.2_Silent_p.S327S|GSN_ENST00000545652.1_Silent_p.S335S|GSN_ENST00000373823.3_Silent_p.S327S|GSN_ENST00000394353.2_Silent_p.S338S	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	378					actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CCCAGGTCTCGGTCCTTCCTG	0.632																																						ENST00000373823.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.(979-981)tcG>tcA		gelsolin							34.0	37.0	36.0					9																	124080948		2203	4300	6503	SO:0001819	synonymous_variant	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124080948G>A	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.1134G>A	9.37:g.124080948G>A						GSN_ENST00000341272.2_Silent_p.S327S|GSN_ENST00000394353.2_Silent_p.S338S|GSN_ENST00000412819.1_Silent_p.S327S|GSN_ENST00000545652.1_Silent_p.S335S|GSN_ENST00000436847.1_Silent_p.S338S|GSN_ENST00000373807.1_Silent_p.S109S|GSN_ENST00000373818.4_Silent_p.S378S|GSN_ENST00000373808.2_Silent_p.S327S|GSN_ENST00000449733.1_Silent_p.S327S	p.S327S			P06396	GELS_HUMAN			17	1886	+			378					A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Silent	SNP	ENST00000373818.4	37	c.981G>A	CCDS6828.1																																																																																				0.632	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		7	33	0	0	0	1	0	7	33				
HHAT	55733	broad.mit.edu	37	1	210796935	210796935	+	Silent	SNP	G	G	A			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr1:210796935G>A	ENST00000367010.1	+	11	1538	c.1311G>A	c.(1309-1311)tcG>tcA	p.S437S	HHAT_ENST00000545781.1_Silent_p.S374S|HHAT_ENST00000413764.2_Silent_p.S437S|HHAT_ENST00000541565.1_Silent_p.S300S|HHAT_ENST00000308852.6_Silent_p.S392S|HHAT_ENST00000391905.3_Silent_p.S437S|HHAT_ENST00000537898.1_Silent_p.S372S|HHAT_ENST00000261458.3_Silent_p.S437S|HHAT_ENST00000367009.1_Silent_p.S127S|HHAT_ENST00000545154.1_Silent_p.S438S	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	437					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTTCCACCTCGATGCTGATCC	0.502																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(1309-1311)tcG>tcA		hedgehog acyltransferase							305.0	281.0	289.0					1																	210796935		2203	4300	6503	SO:0001819	synonymous_variant	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210796935G>A	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1311G>A	1.37:g.210796935G>A						HHAT_ENST00000261458.3_Silent_p.S437S|HHAT_ENST00000367009.1_Silent_p.S127S|HHAT_ENST00000308852.6_Silent_p.S392S|HHAT_ENST00000545781.1_Silent_p.S374S|HHAT_ENST00000541565.1_Silent_p.S300S|HHAT_ENST00000545154.1_Silent_p.S438S|HHAT_ENST00000537898.1_Silent_p.S372S|HHAT_ENST00000413764.2_Silent_p.S437S|HHAT_ENST00000391905.3_Silent_p.S437S	p.S437S	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	11	1538	+			437					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Silent	SNP	ENST00000367010.1	37	c.1311G>A	CCDS1495.1																																																																																				0.502	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		108	231	0	0	0	1	0	108	231				
SIGLEC12	89858	broad.mit.edu	37	19	51995064	51995064	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr19:51995064G>A	ENST00000291707.3	-	8	1674	c.1619C>T	c.(1618-1620)cCg>cTg	p.P540L	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.P422L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	540					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GTCATCTGCCGGGGATTCAAT	0.622																																						ENST00000291707.3																			0				NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61						c.(1618-1620)cCg>cTg		sialic acid binding Ig-like lectin 12 (gene/pseudogene)							39.0	40.0	40.0					19																	51995064		2203	4300	6503	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:51995064G>A	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1619C>T	19.37:g.51995064G>A	ENSP00000291707:p.Pro540Leu					SIGLEC12_ENST00000598614.1_Missense_Mutation_p.P422L	p.P540L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	8	1674	-		all_neural(266;0.0199)	540					Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.1619C>T	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	0.161	-1.080946	0.01888	.	.	ENSG00000254521	ENST00000291707	T	0.41758	0.99	2.79	-5.58	0.02512	.	.	.	.	.	T	0.15089	0.0364	N	0.19112	0.55	0.09310	N	1	B;P	0.35780	0.119;0.52	B;B	0.23716	0.012;0.048	T	0.12066	-1.0562	9	0.20046	T	0.44	.	0.7265	0.00949	0.3673:0.2132:0.262:0.1575	.	540;422	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	L	540	ENSP00000291707:P540L	ENSP00000291707:P540L	P	-	2	0	SIGLEC12	56686876	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.793000	0.01755	-2.512000	0.00503	-0.403000	0.06358	CCG		0.622	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		11	11	0	0	0	1	0	11	11				
FERMT3	83706	broad.mit.edu	37	11	63988554	63988554	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr11:63988554C>T	ENST00000279227.5	+	13	1719	c.1624C>T	c.(1624-1626)Cgc>Tgc	p.R542C	FERMT3_ENST00000345728.5_Missense_Mutation_p.R538C	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	542	FERM.				integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)	p.R538C(1)|p.R542C(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GGCCCAGCTGCGCTTCATCCA	0.662																																						ENST00000279227.5																			2	Substitution - Missense(2)	p.R538C(1)|p.R542C(1)	ovary(2)	breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(1624-1626)Cgc>Tgc		fermitin family member 3							100.0	86.0	91.0					11																	63988554		2201	4297	6498	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63988554C>T	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1624C>T	11.37:g.63988554C>T	ENSP00000279227:p.Arg542Cys					FERMT3_ENST00000345728.5_Missense_Mutation_p.R538C	p.R542C	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN			13	1719	+			542			FERM.		Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.1624C>T	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819062	0.71028	.	.	ENSG00000149781	ENST00000345728;ENST00000279227	T;T	0.79454	-1.27;-1.27	4.29	4.29	0.51040	Band 4.1 domain (1);FERM central domain (2);	0.068219	0.56097	D	0.000029	D	0.82944	0.5147	L	0.52905	1.665	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	P;D	0.65773	0.855;0.938	D	0.83431	0.0038	10	0.54805	T	0.06	-26.3612	11.8234	0.52252	0.176:0.824:0.0:0.0	.	538;542	Q86UX7-2;Q86UX7	.;URP2_HUMAN	C	538;542	ENSP00000339950:R538C;ENSP00000279227:R542C	ENSP00000279227:R542C	R	+	1	0	FERMT3	63745130	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.471000	0.35365	2.386000	0.81285	0.462000	0.41574	CGC		0.662	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		42	65	0	0	0	1	0	42	65				
PIK3CA	5290	broad.mit.edu	37	3	178921551	178921551	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr3:178921551A>T	ENST00000263967.3	+	5	1190	c.1033A>T	c.(1033-1035)Aat>Tat	p.N345Y		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AACCTACGTGAATGTAAATAT	0.303		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1033-1035)Aat>Tat		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							67.0	66.0	66.0					3																	178921551		1806	4074	5880	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178921551A>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1033A>T	3.37:g.178921551A>T	ENSP00000263967:p.Asn345Tyr	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.N345Y	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		5	1190	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		345					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1033A>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.374510	0.82573	.	.	ENSG00000121879	ENST00000263967	T	0.70749	-0.51	5.41	5.41	0.78517	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.85309	0.5667	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86489	0.1796	10	0.46703	T	0.11	-21.0442	15.721	0.77710	1.0:0.0:0.0:0.0	.	345	P42336	PK3CA_HUMAN	Y	345	ENSP00000263967:N345Y	ENSP00000263967:N345Y	N	+	1	0	PIK3CA	180404245	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.851000	0.92205	2.166000	0.68216	0.402000	0.26972	AAT		0.303	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			24	59	0	0	0	1	0	24	59				
PPM1H	57460	broad.mit.edu	37	12	63195840	63195840	+	Missense_Mutation	SNP	G	G	A	rs201631911	byFrequency	TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr12:63195840G>A	ENST00000228705.6	-	3	812	c.512C>T	c.(511-513)aCg>aTg	p.T171M		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	171	PP2C-like.						phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CAGCTGCTCCGTGATGTGGTG	0.667																																						ENST00000228705.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18						c.(511-513)aCg>aTg		protein phosphatase, Mg2+/Mn2+ dependent, 1H							36.0	41.0	39.0					12																	63195840		2138	4230	6368	SO:0001583	missense	57460						phosphoprotein phosphatase activity	g.chr12:63195840G>A	AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	18583	protein-coding gene	gene with protein product	"""neurite extension-related protein phosphatase related to PP2C"""		"""ras homolog gene family, member C like 1"", ""protein phosphatase 1H (PP2C domain containing)"""	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.512C>T	12.37:g.63195840G>A	ENSP00000228705:p.Thr171Met						p.T171M	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)	3	812	-			171			PP2C-like.		B1Q2A9|B2RXG4|Q6PI86	Missense_Mutation	SNP	ENST00000228705.6	37	c.512C>T	CCDS44934.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779633	0.31502	.	.	ENSG00000111110	ENST00000228705	T	0.09350	2.99	4.46	2.1	0.27182	Protein phosphatase 2C-like (3);	0.411149	0.26757	N	0.022642	T	0.04815	0.0130	N	0.13272	0.32	0.28151	N	0.929393	B	0.06786	0.001	B	0.09377	0.004	T	0.34179	-0.9839	9	.	.	.	4.2767	4.2465	0.10674	0.2037:0.2426:0.5536:0.0	.	171	Q9ULR3	PPM1H_HUMAN	M	171	ENSP00000228705:T171M	.	T	-	2	0	PPM1H	61482107	0.492000	0.26027	0.697000	0.30258	0.905000	0.53344	3.797000	0.55514	0.970000	0.38263	0.462000	0.41574	ACG		0.667	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2	NM_020700		16	42	0	0	0	1	0	16	42				
MAD1L1	8379	broad.mit.edu	37	7	2255588	2255588	+	Silent	SNP	G	G	A			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr7:2255588G>A	ENST00000406869.1	-	9	1413	c.856C>T	c.(856-858)Ctg>Ttg	p.L286L	MAD1L1_ENST00000399654.2_Silent_p.L286L|MAD1L1_ENST00000265854.7_Silent_p.L286L|MAD1L1_ENST00000486340.1_5'Flank|MAD1L1_ENST00000402746.1_Silent_p.L194L			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	286					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TTCCTCTGCAGCCCTTCCAGC	0.607																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(856-858)Ctg>Ttg		MAD1 mitotic arrest deficient-like 1 (yeast)							128.0	154.0	145.0					7																	2255588		2151	4243	6394	SO:0001819	synonymous_variant	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2255588G>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.856C>T	7.37:g.2255588G>A						MAD1L1_ENST00000402746.1_Silent_p.L194L|MAD1L1_ENST00000399654.2_Silent_p.L286L|MAD1L1_ENST00000265854.7_Silent_p.L286L	p.L286L			Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	9	1413	-		Ovarian(82;0.0272)	286					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.856C>T	CCDS43539.1																																																																																				0.607	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		51	101	0	0	0	1	0	51	101				
OR51B5	282763	broad.mit.edu	37	11	5364396	5364396	+	Missense_Mutation	SNP	C	C	T	rs369290068	byFrequency	TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr11:5364396C>T	ENST00000300773.2	-	1	413	c.359G>A	c.(358-360)cGt>cAt	p.R120H	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	120					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAATAAAACGGTCATAGGC	0.473													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		20852	0.0		0.0	False		,,,				2504	0.0					ENST00000300773.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28						c.(358-360)cGt>cAt		olfactory receptor, family 51, subfamily B, member 5		C	HIS/ARG	5,4397	9.9+/-24.2	0,5,2196	51.0	52.0	51.0		359	3.9	0.2	11		51	1,8593	1.2+/-3.3	0,1,4296	no	missense	OR51B5	NM_001005567.2	29	0,6,6492	TT,TC,CC		0.0116,0.1136,0.0462	probably-damaging	120/313	5364396	6,12990	2201	4297	6498	SO:0001583	missense	282763				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5364396C>T	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.359G>A	11.37:g.5364396C>T	ENSP00000300773:p.Arg120His					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	p.R120H	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	413	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	120					B2RN59	Missense_Mutation	SNP	ENST00000300773.2	37	c.359G>A	CCDS31378.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211671	0.58452	0.001136	1.16E-4	ENSG00000242180	ENST00000300773	T	0.77489	-1.1	4.76	3.86	0.44501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000875	T	0.81014	0.4735	M	0.93808	3.46	0.36033	D	0.83952	P	0.35684	0.515	B	0.30572	0.117	D	0.86525	0.1818	10	0.72032	D	0.01	.	11.866	0.52493	0.0:0.9145:0.0:0.0855	.	120	Q9H339	O51B5_HUMAN	H	120	ENSP00000300773:R120H	ENSP00000300773:R120H	R	-	2	0	OR51B5	5320972	0.003000	0.15002	0.229000	0.23960	0.961000	0.63080	1.870000	0.39529	1.255000	0.44051	0.650000	0.86243	CGT		0.473	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		35	39	0	0	0	1	0	35	39				
MAP3K13	9175	broad.mit.edu	37	3	185190929	185190929	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr3:185190929G>A	ENST00000265026.3	+	11	2144	c.1810G>A	c.(1810-1812)Gca>Aca	p.A604T	MAP3K13_ENST00000446828.1_Missense_Mutation_p.A397T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.A604T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A460T	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGACTTTGCCGCAATCTTGAA	0.507																																						ENST00000265026.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1810-1812)Gca>Aca		mitogen-activated protein kinase kinase kinase 13							267.0	290.0	282.0					3																	185190929		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185190929G>A	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1810G>A	3.37:g.185190929G>A	ENSP00000265026:p.Ala604Thr					MAP3K13_ENST00000446828.1_Missense_Mutation_p.A397T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.A604T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.A460T	p.A604T	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		11	2144	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		604						Missense_Mutation	SNP	ENST00000265026.3	37	c.1810G>A	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628329	0.28978	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.47	3.66	0.41972	Protein kinase-like domain (1);	0.272838	0.34156	N	0.004210	T	0.33585	0.0868	N	0.14661	0.345	0.20074	N	0.999937	B;B;B	0.20671	0.047;0.047;0.01	B;B;B	0.17433	0.018;0.018;0.008	T	0.20672	-1.0268	10	0.37606	T	0.19	.	10.9504	0.47325	0.0684:0.0:0.8033:0.1283	.	460;397;604	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	T	397;604;460;460;604	ENSP00000411483:A397T;ENSP00000399910:A604T;ENSP00000409325:A460T;ENSP00000439257:A460T;ENSP00000265026:A604T	ENSP00000265026:A604T	A	+	1	0	MAP3K13	186673623	1.000000	0.71417	0.015000	0.15790	0.037000	0.13140	5.110000	0.64622	1.291000	0.44653	-0.268000	0.10319	GCA		0.507	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		5	392	0	0	0	1	0	5	392				
THSD4	79875	broad.mit.edu	37	15	72020942	72020942	+	Missense_Mutation	SNP	G	G	T	rs562013393		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr15:72020942G>T	ENST00000355327.3	+	9	1546	c.1412G>T	c.(1411-1413)cGa>cTa	p.R471L	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.R471L|THSD4_ENST00000357769.4_Missense_Mutation_p.R111L			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	471					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCAATTGATCGACCAGGAAAA	0.527																																						ENST00000355327.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1411-1413)cGa>cTa		thrombospondin, type I, domain containing 4							158.0	148.0	151.0					15																	72020942		1929	4120	6049	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72020942G>T	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1412G>T	15.37:g.72020942G>T	ENSP00000347484:p.Arg471Leu					THSD4_ENST00000357769.4_Missense_Mutation_p.R111L|THSD4_ENST00000261862.6_Missense_Mutation_p.R471L|THSD4_ENST00000567838.1_3'UTR	p.R471L			Q6ZMP0	THSD4_HUMAN			9	1546	+			471					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.1412G>T	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619085	0.66787	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.49432	0.78;0.78;0.78	5.17	5.17	0.71159	ADAM-TS Spacer 1 (1);	0.185873	0.47093	D	0.000242	T	0.28699	0.0711	N	0.04787	-0.16	0.43628	D	0.996015	P;P;B;P	0.52170	0.751;0.69;0.345;0.951	B;B;B;B	0.43728	0.308;0.188;0.146;0.429	T	0.10706	-1.0618	10	0.11182	T	0.66	.	16.1685	0.81786	0.0:0.0:1.0:0.0	.	111;111;471;471	B4E1J6;B4DR13;Q6ZMP0-2;Q6ZMP0	.;.;.;THSD4_HUMAN	L	471;471;111	ENSP00000347484:R471L;ENSP00000261862:R471L;ENSP00000350413:R111L	ENSP00000261862:R471L	R	+	2	0	THSD4	69807996	1.000000	0.71417	0.996000	0.52242	0.854000	0.48673	7.692000	0.84203	2.404000	0.81709	0.462000	0.41574	CGA		0.527	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		14	118	1	0	4.93089e-13	1	5.25247e-13	14	118				
AHI1	54806	broad.mit.edu	37	6	135754276	135754276	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr6:135754276C>T	ENST00000367800.4	-	14	2371	c.2155G>A	c.(2155-2157)Gat>Aat	p.D719N	AHI1_ENST00000417892.2_Missense_Mutation_p.D73N|AHI1_ENST00000327035.6_Missense_Mutation_p.D719N|AHI1_ENST00000457866.2_Missense_Mutation_p.D719N	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	719					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		ATCATGGAATCATAGCATCCT	0.363																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(2155-2157)Gat>Aat		Abelson helper integration site 1							132.0	126.0	128.0					6																	135754276		1858	4113	5971	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135754276C>T	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.2155G>A	6.37:g.135754276C>T	ENSP00000356774:p.Asp719Asn					AHI1_ENST00000417892.2_Missense_Mutation_p.D73N|AHI1_ENST00000457866.2_Missense_Mutation_p.D719N|AHI1_ENST00000327035.6_Missense_Mutation_p.D719N	p.D719N	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	14	2371	-	Breast(56;0.239)|Colorectal(23;0.24)		719					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.2155G>A	CCDS47483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.394014|5.394014	0.96009|0.96009	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000417892;ENST00000265602;ENST00000327035;ENST00000367801|ENST00000367799	D;D;D;D;D|.	0.88975|.	-2.45;-2.45;-2.45;-2.45;-2.45|.	5.74|5.74	5.74|5.74	0.90152|0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86431|0.86431	0.5931|0.5931	H|H	0.94542|0.94542	3.55|3.55	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.998;0.999;1.0|.	D;D;D|.	0.91635|.	0.933;0.96;0.999|.	D|D	0.89389|0.89389	0.3687|0.3687	10|5	0.87932|.	D|.	0|.	-23.818|-23.818	19.91|19.91	0.97023|0.97023	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	719;719;719|.	Q8N157-2;Q8N157;Q4FD35|.	.;AHI1_HUMAN;.|.	N|I	719;719;73;719;719;719|218	ENSP00000356774:D719N;ENSP00000388650:D719N;ENSP00000416867:D73N;ENSP00000265602:D719N;ENSP00000322478:D719N|.	ENSP00000265602:D719N|.	D|M	-|-	1|3	0|0	AHI1|AHI1	135795969|135795969	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.294000|7.294000	0.78760|0.78760	2.702000|2.702000	0.92279|0.92279	0.655000|0.655000	0.94253|0.94253	GAT|ATG		0.363	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		25	67	0	0	0	1	0	25	67				
PCDHGA6	56109	broad.mit.edu	37	5	140754997	140754997	+	Silent	SNP	G	G	A			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr5:140754997G>A	ENST00000517434.1	+	1	1347	c.1347G>A	c.(1345-1347)ccG>ccA	p.P449P	PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	449	Cadherin 4. {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)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAACCCGCCCACCTTCC	0.512																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(1345-1347)ccG>ccA									139.0	153.0	148.0					5																	140754997		2108	4241	6349	SO:0001819	synonymous_variant	0							g.chr5:140754997G>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1347G>A	5.37:g.140754997G>A						PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.P449P	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1347	+								A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	37	c.1347G>A	CCDS54926.1																																																																																				0.512	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		6	179	0	0	0	1	0	6	179				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		5	74	0	0	0	1	0	5	74				
RASSF1	11186	broad.mit.edu	37	3	50368774	50368774	+	Silent	SNP	C	C	T			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr3:50368774C>T	ENST00000357043.2	-	5	914	c.879G>A	c.(877-879)ggG>ggA	p.G293G	RASSF1_ENST00000327761.3_Silent_p.G219G|RASSF1_ENST00000395126.3_Silent_p.G138G|RASSF1_ENST00000359365.4_Silent_p.G289G					Ras association (RalGDS/AF-6) domain family member 1											lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CGTTCACCTCCCCAGAGTCAT	0.542																																						ENST00000359365.4																			0				lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5						c.(865-867)ggG>ggA		Ras association (RalGDS/AF-6) domain family member 1							65.0	64.0	64.0					3																	50368774		2203	4300	6503	SO:0001819	synonymous_variant	11186				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding	g.chr3:50368774C>T	AF132675	CCDS2820.1, CCDS2821.1, CCDS2822.1, CCDS43096.1	3p21.3	2008-02-22	2008-02-22		ENSG00000068028	ENSG00000068028			9882	protein-coding gene	gene with protein product		605082					Standard	NM_170713		Approved	NORE2A, REH3P21, RDA32, 123F2	uc003dad.1	Q9NS23	OTTHUMG00000149958	ENST00000357043.2:c.879G>A	3.37:g.50368774C>T						RASSF1_ENST00000395126.3_Silent_p.G138G|RASSF1_ENST00000357043.2_Silent_p.G293G|RASSF1_ENST00000327761.3_Silent_p.G219G	p.G289G	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	5	973	-			293			Ras-associating.			Silent	SNP	ENST00000357043.2	37	c.867G>A	CCDS2820.1																																																																																				0.542	RASSF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314304.1			13	29	0	0	0	1	0	13	29				
BCORL1	63035	broad.mit.edu	37	X	129149824	129149824	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chrX:129149824G>T	ENST00000218147.7	+	4	3273	c.3076G>T	c.(3076-3078)Gtt>Ttt	p.V1026F	BCORL1_ENST00000540052.1_Missense_Mutation_p.V1026F|BCORL1_ENST00000359304.2_Missense_Mutation_p.V1026F|BCORL1_ENST00000303743.5_Missense_Mutation_p.V1026F			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1026					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ATTGGACGTGGTTCCGAGCAG	0.592																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(3076-3078)Gtt>Ttt		BCL6 corepressor-like 1							78.0	71.0	73.0					X																	129149824		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129149824G>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3076G>T	X.37:g.129149824G>T	ENSP00000218147:p.Val1026Phe					BCORL1_ENST00000303743.5_Missense_Mutation_p.V1026F|BCORL1_ENST00000359304.2_Missense_Mutation_p.V1026F|BCORL1_ENST00000218147.7_Missense_Mutation_p.V1026F	p.V1026F	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	3120	+			1026					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.3076G>T	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.22|12.22	1.872271|1.872271	0.33069|0.33069	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000441294|ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	.|T;T;T;T;T	.|0.45276	.|0.91;1.28;0.9;0.91;1.36	5.17|5.17	3.22|3.22	0.36961|0.36961	.|.	.|0.000000	.|0.33346	.|N	.|0.005019	T|T	0.39436|0.39436	0.1078|0.1078	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|D;D	.|0.71674	.|0.998;0.99	.|P;P	.|0.59703	.|0.862;0.643	T|T	0.10567|0.10567	-1.0624|-1.0624	5|10	.|0.66056	.|D	.|0.02	-8.0409|-8.0409	5.7387|5.7387	0.18081|0.18081	0.0804:0.1326:0.6484:0.1386|0.0804:0.1326:0.6484:0.1386	.|.	.|1026;1026	.|Q5H9F3-2;Q5H9F3	.|.;BCORL_HUMAN	V|F	461|1026;1026;1026;1026;626	.|ENSP00000218147:V1026F;ENSP00000307541:V1026F;ENSP00000352253:V1026F;ENSP00000437775:V1026F;ENSP00000399483:V626F	.|ENSP00000218147:V1026F	G|V	+|+	2|1	0|0	BCORL1|BCORL1	128977505|128977505	0.997000|0.997000	0.39634|0.39634	0.984000|0.984000	0.44739|0.44739	0.605000|0.605000	0.37080|0.37080	1.361000|1.361000	0.34136|0.34136	2.147000|2.147000	0.66899|0.66899	0.529000|0.529000	0.55759|0.55759	GGT|GTT		0.592	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		27	22	1	0	2.79863e-10	1	2.91772e-10	27	22				
C9orf69	90120	broad.mit.edu	37	9	139008643	139008643	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr9:139008643C>T	ENST00000418388.1	-	2	606	c.104G>A	c.(103-105)cGc>cAc	p.R35H	C9orf69_ENST00000561457.1_Missense_Mutation_p.A60T			H0YL14	CI069_HUMAN	chromosome 9 open reading frame 69	35					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of viral process (GO:0048524)|viral process (GO:0016032)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)			endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GTACTTGGTGCGGGCCAGGTG	0.657																																						ENST00000561457.1																			0				endometrium(1)	1						c.(178-180)Gca>Aca		chromosome 9 open reading frame 69							52.0	62.0	58.0					9																	139008643		2010	4149	6159	SO:0001583	missense	90120							g.chr9:139008643C>T		CCDS59155.1	9q34.3	2012-11-26	2012-07-05	2012-07-05	ENSG00000238227	ENSG00000238227			31009	protein-coding gene	gene with protein product						21667337	Standard	NM_152833		Approved	bA83N9.1	uc004cgx.5	H0YL14	OTTHUMG00000020922	ENST00000418388.1:c.104G>A	9.37:g.139008643C>T	ENSP00000453019:p.Arg35His					C9orf69_ENST00000418388.1_Missense_Mutation_p.R35H	p.A60T	NM_152833.2	NP_690046.3				OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)	2	628	-		Myeloproliferative disorder(178;0.0511)							Missense_Mutation	SNP	ENST00000418388.1	37	c.178G>A	CCDS59155.1																																																																																				0.657	C9orf69-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055043.3	NM_152833		3	46	0	0	0	1	0	3	46				
MIR940	100126328	broad.mit.edu	37	16	2321813	2321813	+	lincRNA	SNP	G	G	A			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr16:2321813G>A	ENST00000401276.1	+	0	66				MIR4717_ENST00000584656.1_RNA|MIR3677_ENST00000578964.1_RNA	NR_030636.1				microRNA 940																		AAGGAAGGCAGGGCCCCCGCT	0.701																																						ENST00000401276.1																			0																				16.0	20.0	19.0					16																	2321813		1556	3576	5132			0							g.chr16:2321813G>A			16p13.3	2011-09-12		2008-12-18	ENSG00000216095			"""ncRNAs / Micro RNAs"""	33683	non-coding RNA	RNA, micro				MIRN940			Standard	NR_030636		Approved	hsa-mir-940	uc021tat.1				16.37:g.2321813G>A								NR_030636.1						0	66	+									RNA	SNP	ENST00000401276.1	37																																																																																						0.701	MIR940-201	KNOWN	basic	miRNA	lincRNA		NR_030636		9	13	0	0	0	1	0	9	13				
PPIEL	728448	broad.mit.edu	37	1	40011509	40011509	+	RNA	DEL	T	T	-			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr1:40011509delT	ENST00000440190.1	-	0	350				RP11-69E11.4_ENST00000417869.1_RNA																							TGACTAGGCCTTTTTTAGCAG	0.537																																						ENST00000440190.1																			0																																																			0							g.chr1:40011509delT																													1.37:g.40011509delT														0	350	-									RNA	DEL	ENST00000440190.1	37																																																																																						0.537	RP11-69E11.4-003	KNOWN	basic	antisense	antisense	OTTHUMT00000025214.1			2	4						2	4	---	---	---	---
SGIP1	84251	broad.mit.edu	37	1	67109265	67109267	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr1:67109265_67109267delGAA	ENST00000371037.4	+	7	399_401	c.322_324delGAA	c.(322-324)gaadel	p.E112del	SGIP1_ENST00000237247.6_In_Frame_Del_p.E116del|SGIP1_ENST00000371036.3_In_Frame_Del_p.E87del|SGIP1_ENST00000371035.3_In_Frame_Del_p.E69del|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371039.1_In_Frame_Del_p.E88del	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	112	Poly-Glu.		E -> Q (in dbSNP:rs17490057).		endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AAGTGAATCGGAAGAAGAAGAAG	0.345																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(322-324)del		SH3-domain GRB2-like (endophilin) interacting protein 1				3,4263		0,3,2130						-10.6	0.2			81	12,8242		5,2,4120	no	coding	SGIP1	NM_032291.2		5,5,6250	A1A1,A1R,RR		0.1454,0.0703,0.1198				15,12505				SO:0001651	inframe_deletion	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67109265_67109267delGAA	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.322_324delGAA	1.37:g.67109274_67109276delGAA	ENSP00000360076:p.Glu112del					SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371035.3_In_Frame_Del_p.E69del|SGIP1_ENST00000371036.3_In_Frame_Del_p.E87del|SGIP1_ENST00000237247.6_In_Frame_Del_p.E116del|SGIP1_ENST00000371039.1_In_Frame_Del_p.E88del	p.E112del	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			7	399_401	+			112		E -> Q (in dbSNP:rs17490057).	Poly-Glu.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	In_Frame_Del	DEL	ENST00000371037.4	37	c.322_324delGAA	CCDS30744.1																																																																																				0.345	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		17	33						17	33	---	---	---	---
DCTN1	1639	broad.mit.edu	37	2	74598294	74598296	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr2:74598294_74598296delCCT	ENST00000361874.3	-	9	970_972	c.653_655delAGG	c.(652-657)gaggga>gga	p.E218del	DCTN1_ENST00000407639.2_In_Frame_Del_p.E84del|DCTN1_ENST00000409240.1_In_Frame_Del_p.E181del|DCTN1_ENST00000409868.1_In_Frame_Del_p.E201del|DCTN1_ENST00000394003.3_In_Frame_Del_p.E211del|DCTN1_ENST00000409567.3_In_Frame_Del_p.E198del|DCTN1_ENST00000409438.1_In_Frame_Del_p.E84del	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	218					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GCCCTTAGTCCCTCCTCCTCCTG	0.542																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(652-657)gga>g		dynactin 1																																				SO:0001651	inframe_deletion	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74598294_74598296delCCT		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.653_655delAGG	2.37:g.74598303_74598305delCCT	ENSP00000354791:p.Glu218del					DCTN1_ENST00000409240.1_In_Frame_Del_p.EG181del|DCTN1_ENST00000409868.1_In_Frame_Del_p.EG201del|DCTN1_ENST00000409567.3_In_Frame_Del_p.EG198del|DCTN1_ENST00000409438.1_In_Frame_Del_p.EG84del|DCTN1_ENST00000407639.2_In_Frame_Del_p.EG84del|DCTN1_ENST00000394003.3_In_Frame_Del_p.EG211del	p.EG218del	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			9	970_972	-			218					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	In_Frame_Del	DEL	ENST00000361874.3	37	c.653_655delAGG	CCDS1939.1																																																																																				0.542	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		11	347						11	347	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr3:178916938_178916940delGAA	ENST00000263967.3	+	2	482_484	c.325_327delGAA	c.(325-327)gaadel	p.E110del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	110					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E109del(3)|p.G106_R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGGCAACCGTGAAGAAAAGATCC	0.34		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		4	Deletion - In frame(4)	p.E109del(3)|p.G106_R108del(1)	endometrium(2)|large_intestine(1)|lung(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(325-327)del		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha																																				SO:0001651	inframe_deletion	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916938_178916940delGAA		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.325_327delGAA	3.37:g.178916941_178916943delGAA	ENSP00000263967:p.Glu110del	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E110del	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	482_484	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		110					Q14CW1|Q99762	In_Frame_Del	DEL	ENST00000263967.3	37	c.325_327delGAA	CCDS43171.1																																																																																				0.340	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			41	80						41	80	---	---	---	---
TPD52	7163	broad.mit.edu	37	8	80976789	80976791	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr8:80976789_80976791delTCT	ENST00000379097.3	-	2	539_541	c.177_179delAGA	c.(175-180)gaagat>gat	p.E59del	TPD52_ENST00000518937.1_In_Frame_Del_p.E19del|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000520527.1_In_Frame_Del_p.E59del|TPD52_ENST00000517427.1_In_Frame_Del_p.E59del|TPD52_ENST00000448733.2_In_Frame_Del_p.E59del|TPD52_ENST00000537855.1_In_Frame_Del_p.E59del|TPD52_ENST00000379096.5_In_Frame_Del_p.E19del	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52	59					anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			GGCAGCAACATCTTCTCCTTCCT	0.448																																						ENST00000379096.5																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8						c.(55-60)gat>ga		tumor protein D52																																				SO:0001651	inframe_deletion	7163				anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr8:80976789_80976791delTCT	U18914	CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1	8q21.13	2014-06-24			ENSG00000076554	ENSG00000076554			12005	protein-coding gene	gene with protein product		604068				7796418	Standard	NM_001287144		Approved	D52, hD52, N8L	uc003ybr.1	P55327	OTTHUMG00000164565	ENST00000379097.3:c.177_179delAGA	8.37:g.80976792_80976794delTCT	ENSP00000368391:p.Glu59del					TPD52_ENST00000518937.1_In_Frame_Del_p.ED19del|TPD52_ENST00000448733.2_In_Frame_Del_p.ED59del|TPD52_ENST00000517427.1_In_Frame_Del_p.ED59del|TPD52_ENST00000520527.1_In_Frame_Del_p.ED59del|TPD52_ENST00000537855.1_In_Frame_Del_p.ED59del|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000379097.3_In_Frame_Del_p.ED59del	p.ED19del	NM_005079.2	NP_005070.1	P55327	TPD52_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)		2	171_173	-	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	59					B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	In_Frame_Del	DEL	ENST00000379097.3	37	c.57_59delAGA	CCDS34912.1																																																																																				0.448	TPD52-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379539.2	NM_005079		39	93						39	93	---	---	---	---
ABHD17B	51104	broad.mit.edu	37	9	74489817	74489819	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr9:74489817_74489819delAGA	ENST00000333421.6	-	2	289_291	c.178_180delTCT	c.(178-180)tctdel	p.S60del	ABHD17B_ENST00000377041.2_In_Frame_Del_p.S60del	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	60						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										CTTTTTCTCTAGAAGAATACTGC	0.419																																						ENST00000333421.6																			0											c.(178-180)del		abhydrolase domain containing 17B																																				SO:0001651	inframe_deletion	51104							g.chr9:74489817_74489819delAGA	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"""Abhydrolase domain containing"""	24278	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 77"", ""family with sequence similarity 108, member B1"""	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.178_180delTCT	9.37:g.74489820_74489822delAGA	ENSP00000330222:p.Ser60del					ABHD17B_ENST00000377041.2_In_Frame_Del_p.S60del	p.S60del	NM_001025780.1	NP_001020951.1					2	289_291	-								A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	In_Frame_Del	DEL	ENST00000333421.6	37	c.178_180delTCT	CCDS35043.1																																																																																				0.419	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		18	145						18	145	---	---	---	---
PRDM12	59335	broad.mit.edu	37	9	133543701	133543702	+	Splice_Site	DEL	GT	GT	-	rs138789124		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr9:133543701_133543702delGT	ENST00000253008.2	+	3	630		c.e3+1			NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12						neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GGCCATTGAGGTGTGTGTGTGT	0.594																																						ENST00000253008.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.e3+1		PR domain containing 12																																				SO:0001630	splice_region_variant	59335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:133543701_133543702delGT	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"""Zinc fingers, C2H2-type"""	13997	protein-coding gene	gene with protein product	"""PR-domain containing protein 12"", ""PR-domain zinc finger protein 12"""					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.570+1GT>-	9.37:g.133543711_133543712delGT								NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	3	630	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)						A3KFK9	Splice_Site	DEL	ENST00000253008.2	37		CCDS6934.1																																																																																				0.594	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619	Intron	9	88						9	88	---	---	---	---
SURF4	6836	broad.mit.edu	37	9	136230378	136230380	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr9:136230378_136230380delCTT	ENST00000371989.3	-	6	928_930	c.799_801delAAG	c.(799-801)aagdel	p.K267del	SURF4_ENST00000485435.2_Intron|SURF4_ENST00000467910.1_5'Flank|SURF4_ENST00000545297.1_3'UTR	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	267					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		GTTACCACTCCTTCTTCTTCTCA	0.547																																						ENST00000371989.3																			0				kidney(1)|large_intestine(2)|lung(5)	8						c.(799-801)del		surfeit 4				1,4263		0,1,2131						5.4	1.0			83	1,8253		0,1,4126	no	coding	SURF4	NM_033161.2		0,2,6257	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12516				SO:0001651	inframe_deletion	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136230378_136230380delCTT		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"""surfeit locus protein 4"", ""surface 4 integral membrane protein"""	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.799_801delAAG	9.37:g.136230384_136230386delCTT	ENSP00000361057:p.Lys267del					SURF4_ENST00000485435.2_Intron|SURF4_ENST00000545297.1_3'UTR	p.K267del	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	6	928_930	-			267					B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	In_Frame_Del	DEL	ENST00000371989.3	37	c.799_801delAAG	CCDS6968.1																																																																																				0.547	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		8	50						8	50	---	---	---	---
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs371843007|rs77846840|rs540699806|rs267607656	byFrequency	TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tatggctccggaggtagcagctac>tac	p.552_559YGSGGSSY>Y		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688																																						ENST00000252244.3																			3	Deletion - In frame(3)	p.S557_G563delSSYGSGG(3)	prostate(2)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(1654-1677)tac>ta		keratin 1				1239,2109		396,447,831				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		-4.4	0.0		dbSNP_129	4	2732,4060		826,1080,1490	no	coding	KRT1	NM_006121.3		1222,1527,2321	A1A1,A1R,RR		40.2238,37.0072,39.1617				3971,6169				SO:0001651	inframe_deletion	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	12.37:g.53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENSP00000252244:p.Tyr552_Ser558del						p.YGSGGSSY552del	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			9	1714_1734	-			552			Gly/Ser-rich.|Tail.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	In_Frame_Del	DEL	ENST00000252244.3	37	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	CCDS8836.1																																																																																				0.688	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		4	3						4	3	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112605213	112605215	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr12:112605213_112605215delAGA	ENST00000430131.2	-	71	12319_12321	c.11174_11176delTCT	c.(11173-11178)ttctgg>tgg	p.F3725del	HECTD4_ENST00000550722.1_In_Frame_Del_p.F4001del|HECTD4_ENST00000377560.5_In_Frame_Del_p.F3975del			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3725	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AGCGTCTTCCAGAAGGAGGGCAG	0.606																																						ENST00000550722.1																			0											c.(12001-12006)tgg>t		HECT domain containing E3 ubiquitin protein ligase 4																																				SO:0001651	inframe_deletion	283450							g.chr12:112605213_112605215delAGA	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11174_11176delTCT	12.37:g.112605213_112605215delAGA	ENSP00000404379:p.Phe3725del					HECTD4_ENST00000430131.2_In_Frame_Del_p.FW3725del|HECTD4_ENST00000377560.5_In_Frame_Del_p.FW3975del	p.FW4001del	NM_001109662.3	NP_001103132.3					72	12397_12399	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	In_Frame_Del	DEL	ENST00000430131.2	37	c.12002_12004delTCT																																																																																					0.606	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		10	64						10	64	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G	rs199996275	byFrequency	TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933									DNM1 pseudogene 47																		AACCTGTACTCGCGTCGGAACC	0.589													|||unknown(NO_COVERAGE)	758	0.151358	0.2511	0.1167	5008	,	,		74102	0.0595		0.163	False		,,,				2504	0.1237					ENST00000561463.1																			0																																																			0							g.chr15:102299886_102299887insG	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299887_102299887dupG														0	7932_7933	+									RNA	INS	ENST00000561463.1	37																																																																																						0.589	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	9						4	9	---	---	---	---
MYH10	4628	broad.mit.edu	37	17	8526520	8526521	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr17:8526520_8526521delAA	ENST00000269243.4	-	2	182_183	c.44_45delTT	c.(43-45)tttfs	p.F15fs	MYH10_ENST00000396239.1_Frame_Shift_Del_p.F15fs|MYH10_ENST00000379980.4_Frame_Shift_Del_p.F15fs|MYH10_ENST00000360416.3_Frame_Shift_Del_p.F15fs	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	15					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CCCTGTCCACAAAGAGATACCT	0.48																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(43-45)tfs		myosin, heavy chain 10, non-muscle																																				SO:0001589	frameshift_variant	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8526520_8526521delAA	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.44_45delTT	17.37:g.8526520_8526521delAA	ENSP00000269243:p.Phe15fs					MYH10_ENST00000379980.4_Frame_Shift_Del_p.F15fs|MYH10_ENST00000396239.1_Frame_Shift_Del_p.F15fs|MYH10_ENST00000269243.4_Frame_Shift_Del_p.F15fs	p.F15fs	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			2	182_183	-			15			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Frame_Shift_Del	DEL	ENST00000269243.4	37	c.44_45delTT	CCDS11144.1																																																																																				0.480	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			25	92						25	92	---	---	---	---
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-	rs532006952		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr19:17160706_17160707delGA	ENST00000253669.5	-	11	1399_1400	c.1209_1210delTC	c.(1207-1212)tctcgtfs	p.R404fs	HAUS8_ENST00000593360.1_Frame_Shift_Del_p.R343fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.R403fs|CTD-2528A14.3_ENST00000598893.1_RNA			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	404					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCCCTGAACGAGAGAGAGAGG	0.495																																						ENST00000593360.1																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						c.(1024-1029)tcgtfs		HAUS augmin-like complex, subunit 8																																				SO:0001589	frameshift_variant	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17160706_17160707delGA	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.1209_1210delTC	19.37:g.17160714_17160715delGA	ENSP00000253669:p.Arg404fs					HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs	p.SR342fs			Q9BT25	HAUS8_HUMAN			10	3044_3045	-			403					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Frame_Shift_Del	DEL	ENST00000253669.5	37	c.1026_1027delTC	CCDS32948.1																																																																																				0.495	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		7	300						7	300	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42791390	42791391	+	Frame_Shift_Ins	INS	-	-	G			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr19:42791390_42791391insG	ENST00000575354.2	+	3	490_491	c.450_451insG	c.(451-453)gccfs	p.A151fs	CIC_ENST00000572681.2_Frame_Shift_Ins_p.A1060fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.A151fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCATGATGATGCGTGAGTTCC	0.649			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3175-3180)gaccttfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791390_42791391insG	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.451dupG	19.37:g.42791391_42791391dupG	ENSP00000458663:p.Ala151fs					CIC_ENST00000160740.3_Frame_Shift_Ins_p.DL150fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.DL150fs	p.DL1059fs			Q96RK0	CIC_HUMAN			4	3245_3246	+		Prostate(69;0.00682)	150			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	c.3177_3178insG	CCDS12601.1																																																																																				0.649	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			13	7						13	7	---	---	---	---
PIGU	128869	broad.mit.edu	37	20	33225719	33225719	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr20:33225719delG	ENST00000374820.2	-	4	349	c.329delC	c.(328-330)cctfs	p.P110fs	PIGU_ENST00000452740.2_Frame_Shift_Del_p.P130fs			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	130					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						CATTTCCATAGGGGTCCGGAT	0.423																																						ENST00000374820.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						c.(328-330)ctfs		phosphatidylinositol glycan anchor biosynthesis, class U							106.0	101.0	103.0					20																	33225719		2203	4300	6503	SO:0001589	frameshift_variant	128869				attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane		g.chr20:33225719delG	AL118520	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464		"""Phosphatidylinositol glycan anchor biosynthesis"""	15791	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	608528	"""CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1"", ""CDC91 cell division cycle 91-like 1 (S. cerevisiae)"""	CDC91L1		12802054, 15034568	Standard	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	Q9H490	OTTHUMG00000032304	ENST00000374820.2:c.329delC	20.37:g.33225719delG	ENSP00000363953:p.Pro110fs					PIGU_ENST00000452740.2_Frame_Shift_Del_p.P130fs	p.P110fs			Q9H490	PIGU_HUMAN			4	349	-			130					Q7Z489|Q8N2F2	Frame_Shift_Del	DEL	ENST00000374820.2	37	c.329delC																																																																																					0.423	PIGU-201	KNOWN	basic	protein_coding	protein_coding		NM_080476		37	71						37	71	---	---	---	---
