#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KLHDC7A	127707	broad.mit.edu	37	1	18809302	18809302	+	Silent	SNP	G	G	C			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr1:18809302G>C	ENST00000400664.1	+	1	1879	c.1827G>C	c.(1825-1827)ctG>ctC	p.L609L		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	609						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCCCGCCTGGACCGCTGGG	0.701																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1825-1827)ctG>ctC		kelch domain containing 7A							23.0	24.0	24.0					1																	18809302		2202	4295	6497	SO:0001819	synonymous_variant	127707					integral to membrane		g.chr1:18809302G>C	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1827G>C	1.37:g.18809302G>C							p.L609L	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	1879	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	609					Q8N8W6	Silent	SNP	ENST00000400664.1	37	c.1827G>C	CCDS185.2																																																																																				0.701	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		5	11	5	11	---	---	---	---
MOB3C	148932	broad.mit.edu	37	1	47075780	47075780	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr1:47075780C>T	ENST00000319928.3	-	3	745	c.515G>A	c.(514-516)aGc>aAc	p.S172N	MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000271139.8_Missense_Mutation_p.S224N|MOB3C_ENST00000371940.1_Missense_Mutation_p.S195N|MKNK1_ENST00000545730.1_Intron	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	172							metal ion binding (GO:0046872)										GCTGAGGATGCTATCGAAGTG	0.557																																						ENST00000371940.1																			0											c.(583-585)aGc>aAc		MOB kinase activator 3C							136.0	127.0	130.0					1																	47075780		2203	4300	6503	SO:0001583	missense	148932						metal ion binding	g.chr1:47075780C>T	AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"""MOB kinase activators"""	29800	protein-coding gene	gene with protein product			"""MOB1, Mps One Binder kinase activator-like 2C (yeast)"""	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.515G>A	1.37:g.47075780C>T	ENSP00000315113:p.Ser172Asn					MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000271139.8_Missense_Mutation_p.S224N|MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000319928.3_Missense_Mutation_p.S172N	p.S195N			Q70IA8	MOL2C_HUMAN			2	3658	-			172					D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	ENST00000319928.3	37	c.584G>A	CCDS540.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516237	0.64634	.	.	ENSG00000142961	ENST00000319928;ENST00000271139;ENST00000371940	.	.	.	5.19	5.19	0.71726	.	0.217239	0.56097	D	0.000034	T	0.42131	0.1189	N	0.19112	0.55	0.47621	D	0.999473	B	0.02656	0.0	B	0.11329	0.006	T	0.23833	-1.0177	9	0.25106	T	0.35	-37.89	13.7558	0.62935	0.0:0.8461:0.1539:0.0	.	172	Q70IA8	MOB3C_HUMAN	N	172;224;195	.	ENSP00000271139:S224N	S	-	2	0	MOBKL2C	46848367	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.733000	0.62036	2.571000	0.86741	0.561000	0.74099	AGC		0.557	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145279		4	95	4	95	---	---	---	---
KCNC4	3749	broad.mit.edu	37	1	110774894	110774894	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr1:110774894G>T	ENST00000369787.3	+	4	1898	c.1871G>T	c.(1870-1872)tGc>tTc	p.C624F	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Intron|KCNC4_ENST00000413138.3_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	624					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGGCTGCATGCCCTCCAACT	0.547																																						ENST00000369787.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(1870-1872)tGc>tTc		potassium voltage-gated channel, Shaw-related subfamily, member 4							92.0	68.0	76.0					1																	110774894		2203	4300	6503	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110774894G>T	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1871G>T	1.37:g.110774894G>T	ENSP00000358802:p.Cys624Phe					KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Intron|KCNC4_ENST00000438661.2_Intron	p.C624F	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	4	1898	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	624					Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.1871G>T	CCDS821.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292140	0.40594	.	.	ENSG00000116396	ENST00000369787	D	0.97688	-4.49	2.21	-0.923	0.10465	.	7739.210000	0.00166	N	0.000000	D	0.85767	0.5773	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	D	0.83929	0.0305	10	0.41790	T	0.15	.	5.019	0.14352	0.5194:0.0:0.4806:0.0	.	624	Q03721	KCNC4_HUMAN	F	624	ENSP00000358802:C624F	ENSP00000358802:C624F	C	+	2	0	KCNC4	110576417	0.000000	0.05858	0.000000	0.03702	0.991000	0.79684	0.290000	0.18975	-0.246000	0.09611	0.655000	0.94253	TGC		0.547	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		3	11	3	11	---	---	---	---
CD1E	913	broad.mit.edu	37	1	158325904	158325904	+	Intron	SNP	C	C	A			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr1:158325904C>A	ENST00000368167.3	+	4	1143				CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.Q303K	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule						antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGGTGAGAAACAGCTGAGGCT	0.532																																						ENST00000434258.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(907-909)Cag>Aag		CD1e molecule							38.0	43.0	41.0					1																	158325904		2203	4300	6503	SO:0001627	intron_variant	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325904C>A	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.904+9C>A	1.37:g.158325904C>A						CD1E_ENST00000368155.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368167.3_Intron	p.Q303K			P15812	CD1E_HUMAN			4	918	+	all_hematologic(112;0.0378)		0					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.907C>A	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	C	1.625	-0.520582	0.04171	.	.	ENSG00000158488	ENST00000434258	T	0.01629	4.72	3.55	-6.36	0.01969	.	.	.	.	.	T	0.00300	0.0009	.	.	.	0.09310	N	1	B;B;B	0.12630	0.002;0.001;0.006	B;B;B	0.12837	0.005;0.0;0.008	T	0.47195	-0.9136	7	.	.	.	.	0.7109	0.00924	0.1919:0.2543:0.175:0.3788	.	116;206;303	B4E057;B4E042;E7ET31	.;.;.	K	303	ENSP00000401957:Q303K	.	Q	+	1	0	CD1E	156592528	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.140000	0.03210	-1.124000	0.02936	-1.036000	0.02392	CAG		0.532	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		7	38	7	38	---	---	---	---
PGAP1	80055	broad.mit.edu	37	2	197791205	197791205	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr2:197791205G>C	ENST00000354764.4	-	1	250	c.136C>G	c.(136-138)Ccg>Gcg	p.P46A	PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron|PGAP1_ENST00000409475.1_Missense_Mutation_p.P46A	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	46					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TGATACTCCGGGTACTCAAAC	0.542																																						ENST00000354764.4																			0				breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						c.(136-138)Ccg>Gcg		post-GPI attachment to proteins 1							194.0	213.0	207.0					2																	197791205		2203	4300	6503	SO:0001583	missense	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197791205G>C		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.136C>G	2.37:g.197791205G>C	ENSP00000346809:p.Pro46Ala					PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron|PGAP1_ENST00000409475.1_Missense_Mutation_p.P46A	p.P46A	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN			1	250	-								Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	c.136C>G	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404371	0.62288	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475;ENST00000374738	.	.	.	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.75759	0.3893	M	0.69358	2.11	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.911;0.991	T	0.78969	-0.1994	9	0.87932	D	0	-6.2175	13.2964	0.60298	0.0:0.0:1.0:0.0	.	46;46	Q75T13-3;Q75T13	.;PGAP1_HUMAN	A	46	.	ENSP00000346809:P46A	P	-	1	0	PGAP1	197499450	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.894000	0.87336	2.158000	0.67659	0.313000	0.20887	CCG		0.542	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		7	212	7	212	---	---	---	---
AOX1	316	broad.mit.edu	37	2	201499584	201499584	+	Silent	SNP	A	A	G			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr2:201499584A>G	ENST00000374700.2	+	21	2533	c.2292A>G	c.(2290-2292)ggA>ggG	p.G764G	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	764					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTCCCAAGGGAGAGGATCAAG	0.413																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(2290-2292)ggA>ggG		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						120.0	117.0	118.0					2																	201499584		2203	4300	6503	SO:0001819	synonymous_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201499584A>G	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2292A>G	2.37:g.201499584A>G						AOX1_ENST00000485106.1_3'UTR	p.G764G	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			21	2533	+			764					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.2292A>G	CCDS33360.1																																																																																				0.413	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		3	51	3	51	---	---	---	---
CFLAR	8837	broad.mit.edu	37	2	202025331	202025331	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr2:202025331G>A	ENST00000309955.3	+	9	1485	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	CFLAR_ENST00000423241.2_Missense_Mutation_p.V324M|CFLAR_ENST00000479953.2_Missense_Mutation_p.V228M|CFLAR_ENST00000443227.1_Missense_Mutation_p.V228M|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000457277.1_Missense_Mutation_p.V324M|CFLAR_ENST00000340870.5_Missense_Mutation_p.V324M|CFLAR_ENST00000341582.6_Missense_Mutation_p.V289M|CFLAR-AS1_ENST00000415011.2_RNA	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	324	Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						TGTGTATGGTGTGGATCAGAC	0.522																																					Pancreas(16;548 657 22190 32864 42338)	ENST00000309955.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						c.(970-972)Gtg>Atg		CASP8 and FADD-like apoptosis regulator							147.0	130.0	136.0					2																	202025331		2203	4300	6503	SO:0001583	missense	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:202025331G>A	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.970G>A	2.37:g.202025331G>A	ENSP00000312455:p.Val324Met					CFLAR_ENST00000457277.1_Missense_Mutation_p.V324M|CFLAR_ENST00000341582.6_Missense_Mutation_p.V289M|CFLAR_ENST00000443227.1_Missense_Mutation_p.V228M|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000423241.2_Missense_Mutation_p.V324M|CFLAR_ENST00000340870.5_Missense_Mutation_p.V324M|CFLAR_ENST00000479953.2_Missense_Mutation_p.V228M	p.V324M	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN			9	1485	+						Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	37	c.970G>A	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588551	0.28357	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000423241;ENST00000457277	T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04	5.62	1.66	0.24008	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.603736	0.17573	N	0.169415	T	0.38639	0.1048	M	0.79475	2.455	0.09310	N	1	D;D;D;D	0.69078	0.961;0.997;0.967;0.994	D;D;P;D	0.67900	0.929;0.954;0.859;0.954	T	0.12344	-1.0551	10	0.56958	D	0.05	-3.1191	4.7893	0.13241	0.3955:0.0:0.4648:0.1397	.	228;324;289;324	O15519-3;O15519-11;O15519-8;O15519	.;.;.;CFLAR_HUMAN	M	324;228;324;210;289;324;324	ENSP00000312455:V324M;ENSP00000413270:V228M;ENSP00000339326:V324M;ENSP00000345807:V289M;ENSP00000399420:V324M;ENSP00000411535:V324M	ENSP00000312455:V324M	V	+	1	0	CFLAR	201733576	0.006000	0.16342	0.065000	0.19835	0.006000	0.05464	0.619000	0.24388	0.287000	0.22375	-0.324000	0.08512	GTG		0.522	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		14	75	14	75	---	---	---	---
PFKFB4	5210	broad.mit.edu	37	3	48573816	48573816	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr3:48573816A>G	ENST00000232375.3	-	8	825	c.713T>C	c.(712-714)aTc>aCc	p.I238T	PFKFB4_ENST00000416568.1_Missense_Mutation_p.I238T|PFKFB4_ENST00000383734.2_Missense_Mutation_p.I238T|PFKFB4_ENST00000541519.1_Missense_Mutation_p.I204T|PFKFB4_ENST00000536104.1_Missense_Mutation_p.I227T|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000490115.1_5'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	238	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTAATATACGATGCGGCTCTG	0.577																																						ENST00000232375.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(712-714)aTc>aCc		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4							155.0	150.0	152.0					3																	48573816		2203	4300	6503	SO:0001583	missense	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48573816A>G	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.713T>C	3.37:g.48573816A>G	ENSP00000232375:p.Ile238Thr					PFKFB4_ENST00000536104.1_Missense_Mutation_p.I227T|PFKFB4_ENST00000416568.1_Missense_Mutation_p.I238T|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.I204T|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000383734.2_Missense_Mutation_p.I238T	p.I238T	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	8	825	-			238			6-phosphofructo-2-kinase.		Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP	ENST00000232375.3	37	c.713T>C	CCDS2771.1	.	.	.	.	.	.	.	.	.	.	A	19.59	3.855849	0.71834	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000383734;ENST00000541519;ENST00000452531	.	.	.	4.43	4.43	0.53597	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	T	0.70168	0.3193	M	0.61703	1.905	0.80722	D	1	P;D;D;P	0.76494	0.918;0.997;0.999;0.497	D;D;D;B	0.91635	0.915;0.996;0.999;0.398	T	0.68179	-0.5477	9	0.31617	T	0.26	-25.7242	11.9766	0.53096	1.0:0.0:0.0:0.0	.	227;238;238;238	B7Z5C3;Q5XLC2;Q66S35;Q16877	.;.;.;F264_HUMAN	T	238;227;238;238;204;227	.	ENSP00000232375:I238T	I	-	2	0	PFKFB4	48548820	1.000000	0.71417	0.889000	0.34880	0.934000	0.57294	5.112000	0.64634	1.999000	0.58509	0.459000	0.35465	ATC		0.577	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567		24	98	24	98	---	---	---	---
POLR2B	5431	broad.mit.edu	37	4	57856954	57856954	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr4:57856954G>T	ENST00000381227.1	+	4	546	c.133G>T	c.(133-135)Gat>Tat	p.D45Y	POLR2B_ENST00000441246.2_Missense_Mutation_p.D38Y|POLR2B_ENST00000314595.5_Missense_Mutation_p.D45Y|POLR2B_ENST00000431623.2_Intron			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	45					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ACAACAGCTGGATTCTTTTGA	0.408																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(133-135)Gat>Tat		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							135.0	136.0	136.0					4																	57856954		2203	4300	6503	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57856954G>T		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.133G>T	4.37:g.57856954G>T	ENSP00000370625:p.Asp45Tyr					POLR2B_ENST00000431623.2_Intron|POLR2B_ENST00000314595.5_Missense_Mutation_p.D45Y|POLR2B_ENST00000441246.2_Missense_Mutation_p.D38Y	p.D45Y			P30876	RPB2_HUMAN			4	546	+	Glioma(25;0.08)|all_neural(26;0.181)		45					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.133G>T	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061513	0.93846	.	.	ENSG00000047315	ENST00000450656;ENST00000381227;ENST00000441246;ENST00000433463;ENST00000314595	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.9	5.9	0.94986	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.92625	0.7657	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.93451	0.6802	10	0.87932	D	0	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	45	P30876	RPB2_HUMAN	Y	45;45;38;38;45	ENSP00000408638:D45Y;ENSP00000370625:D45Y;ENSP00000391452:D38Y;ENSP00000407728:D38Y;ENSP00000312735:D45Y	ENSP00000312735:D45Y	D	+	1	0	POLR2B	57551711	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.859000	0.99545	2.806000	0.96561	0.655000	0.94253	GAT		0.408	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		30	96	30	96	---	---	---	---
UGT2B15	7366	broad.mit.edu	37	4	69535901	69535901	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr4:69535901A>T	ENST00000338206.5	-	1	445	c.436T>A	c.(436-438)Ttt>Att	p.F146I		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	146					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	ATGACATCAAACTTTGACTCT	0.373																																						ENST00000338206.5																			0											c.(436-438)Ttt>Att		UDP glucuronosyltransferase 2 family, polypeptide B15							206.0	213.0	211.0					4																	69535901		2203	4296	6499	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69535901A>T	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.436T>A	4.37:g.69535901A>T	ENSP00000341045:p.Phe146Ile						p.F146I	NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN			1	445	-			146					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.436T>A	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	a	13.78	2.339991	0.41398	.	.	ENSG00000196620	ENST00000338206	T	0.63580	-0.05	2.79	2.79	0.32731	.	0.277522	0.29616	U	0.011645	T	0.81088	0.4750	M	0.93720	3.45	0.27031	N	0.964248	D	0.76494	0.999	D	0.74023	0.982	T	0.72896	-0.4153	10	0.87932	D	0	.	8.9997	0.36074	1.0:0.0:0.0:0.0	.	146	P54855	UDB15_HUMAN	I	146	ENSP00000341045:F146I	ENSP00000341045:F146I	F	-	1	0	UGT2B15	69218496	1.000000	0.71417	0.259000	0.24435	0.075000	0.17131	7.976000	0.88070	1.259000	0.44117	0.363000	0.22086	TTT		0.373	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		12	307	12	307	---	---	---	---
NPY2R	4887	broad.mit.edu	37	4	156135918	156135918	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr4:156135918T>A	ENST00000329476.3	+	2	1316	c.827T>A	c.(826-828)gTg>gAg	p.V276E	NPY2R_ENST00000506608.1_Missense_Mutation_p.V276E	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	276					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	GTGGTGGTGGTGTTTGCGGTC	0.512																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.(826-828)gTg>gAg		neuropeptide Y receptor Y2							108.0	100.0	103.0					4																	156135918		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135918T>A	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.827T>A	4.37:g.156135918T>A	ENSP00000332591:p.Val276Glu					NPY2R_ENST00000506608.1_Missense_Mutation_p.V276E	p.V276E	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN			2	1316	+	all_hematologic(180;0.24)	Renal(120;0.0854)	276					Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.827T>A	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.040868	0.75732	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.58506	0.33;0.33	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.80722	0.4677	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84807	0.0788	10	0.87932	D	0	.	15.5947	0.76569	0.0:0.0:0.0:1.0	.	276	P49146	NPY2R_HUMAN	E	276	ENSP00000332591:V276E;ENSP00000426366:V276E	ENSP00000332591:V276E	V	+	2	0	NPY2R	156355368	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.289000	0.72696	2.274000	0.75844	0.523000	0.50628	GTG		0.512	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		7	33	7	33	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38877389	38877389	+	Silent	SNP	G	G	T			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr6:38877389G>T	ENST00000359357.3	+	63	9212	c.8958G>T	c.(8956-8958)ctG>ctT	p.L2986L	DNAH8_ENST00000441566.1_Silent_p.L2950L|DNAH8_ENST00000449981.2_Silent_p.L3203L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2986	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGGAGGCTCTGATTGCTGTGG	0.453																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(8956-8958)ctG>ctT		dynein, axonemal, heavy chain 8							135.0	126.0	129.0					6																	38877389		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38877389G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.8958G>T	6.37:g.38877389G>T						DNAH8_ENST00000449981.2_Silent_p.L3203L|DNAH8_ENST00000441566.1_Silent_p.L2950L	p.L2986L							63	9212	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.8958G>T																																																																																					0.453	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		5	74	5	74	---	---	---	---
SMC2	10592	broad.mit.edu	37	9	106858474	106858474	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr9:106858474G>C	ENST00000286398.7	+	3	502	c.214G>C	c.(214-216)Gct>Cct	p.A72P	SMC2_ENST00000374787.3_Missense_Mutation_p.A72P|SMC2_ENST00000303219.8_Missense_Mutation_p.A72P|SMC2_ENST00000374793.3_Missense_Mutation_p.A72P	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	72					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AAATGGGCAGGCTGGTATTAC	0.343																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(214-216)Gct>Cct		structural maintenance of chromosomes 2							97.0	103.0	101.0					9																	106858474		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106858474G>C	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.214G>C	9.37:g.106858474G>C	ENSP00000286398:p.Ala72Pro					SMC2_ENST00000374787.3_Missense_Mutation_p.A72P|SMC2_ENST00000303219.8_Missense_Mutation_p.A72P|SMC2_ENST00000374793.3_Missense_Mutation_p.A72P	p.A72P	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			3	502	+			72					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.214G>C	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681901	0.88542	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000536893;ENST00000374787	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.43	4.48	0.54585	RecF/RecN/SMC (1);	0.049725	0.85682	D	0.000000	T	0.78886	0.4354	M	0.67700	2.07	0.58432	D	0.999998	P;D	0.71674	0.604;0.998	P;D	0.74674	0.524;0.984	T	0.81037	-0.1114	10	0.87932	D	0	-11.9491	13.7096	0.62661	0.0:0.0:0.8452:0.1548	.	72;72	O95347;Q2KQ72	SMC2_HUMAN;.	P	72	ENSP00000286398:A72P;ENSP00000363925:A72P;ENSP00000306152:A72P;ENSP00000363919:A72P	ENSP00000286398:A72P	A	+	1	0	SMC2	105898295	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.850000	0.86915	2.543000	0.85770	0.655000	0.94253	GCT		0.343	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			22	77	22	77	---	---	---	---
APBB1IP	54518	broad.mit.edu	37	10	26785235	26785235	+	Silent	SNP	T	T	C			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr10:26785235T>C	ENST00000376236.4	+	4	530	c.75T>C	c.(73-75)agT>agC	p.S25S	APBB1IP_ENST00000356785.4_Silent_p.S25S	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	25					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TTTCACAGAGTTTAGGAGTTG	0.378																																						ENST00000376236.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(73-75)agT>agC		amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein							91.0	90.0	91.0					10																	26785235		2203	4300	6503	SO:0001819	synonymous_variant	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26785235T>C	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.75T>C	10.37:g.26785235T>C						APBB1IP_ENST00000356785.4_Silent_p.S25S	p.S25S	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN			4	530	+			25					Q8IWS8|Q8IYL7|Q8IZZ7	Silent	SNP	ENST00000376236.4	37	c.75T>C	CCDS31167.1																																																																																				0.378	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		4	61	4	61	---	---	---	---
PPIF	10105	broad.mit.edu	37	10	81113578	81113578	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr10:81113578G>A	ENST00000225174.3	+	6	675	c.604G>A	c.(604-606)Gac>Aac	p.D202N	PPIF_ENST00000394579.3_3'UTR	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	peptidylprolyl isomerase F	202	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic mitochondrial changes (GO:0008637)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ATPase activity (GO:0032780)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein folding (GO:0006457)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of necrotic cell death (GO:0010939)|regulation of proton-transporting ATPase activity, rotational mechanism (GO:0010849)|response to ischemia (GO:0002931)	membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Cyclosporine(DB00091)|L-Proline(DB00172)	TGTCATCACAGACTGTGGCCA	0.537																																						ENST00000225174.3																			0				endometrium(2)|lung(2)|skin(2)	6						c.(604-606)Gac>Aac		peptidylprolyl isomerase F	Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)						114.0	94.0	100.0					10																	81113578		2203	4300	6503	SO:0001583	missense	10105				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity	g.chr10:81113578G>A	M80254	CCDS7358.1	10q22-q23	2008-10-24	2008-10-24		ENSG00000108179	ENSG00000108179	5.2.1.8		9259	protein-coding gene	gene with protein product	"""cyclophilin D"""	604486	"""peptidylprolyl isomerase F (cyclophilin F)"""			1744118	Standard	NM_005729		Approved	hCyP3, Cyp-D	uc001kai.3	P30405	OTTHUMG00000018562	ENST00000225174.3:c.604G>A	10.37:g.81113578G>A	ENSP00000225174:p.Asp202Asn					PPIF_ENST00000394579.3_3'UTR	p.D202N	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		6	675	+	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		202			PPIase cyclophilin-type.		Q2YDB7|Q5W131	Missense_Mutation	SNP	ENST00000225174.3	37	c.604G>A	CCDS7358.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652721	0.88056	.	.	ENSG00000108179	ENST00000225174	T	0.43688	0.94	5.65	5.65	0.86999	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.045464	0.85682	D	0.000000	T	0.52224	0.1721	N	0.25286	0.73	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.50759	-0.8790	10	0.42905	T	0.14	-51.3002	19.3509	0.94384	0.0:0.0:1.0:0.0	.	202	P30405	PPIF_HUMAN	N	202	ENSP00000225174:D202N	ENSP00000225174:D202N	D	+	1	0	PPIF	80783584	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.570000	0.82390	2.655000	0.90218	0.655000	0.94253	GAC		0.537	PPIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048949.1	NM_005729		6	40	6	40	---	---	---	---
GDPD4	220032	broad.mit.edu	37	11	76980034	76980034	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr11:76980034A>C	ENST00000376217.2	-	8	809	c.559T>G	c.(559-561)Tgc>Ggc	p.C187G	GDPD4_ENST00000527489.1_5'Flank|GDPD4_ENST00000315938.4_Missense_Mutation_p.C187G			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	187					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TCCTGAATGCAGGGAGAATAA	0.438																																						ENST00000315938.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						c.(559-561)Tgc>Ggc		glycerophosphodiester phosphodiesterase domain containing 4							114.0	110.0	112.0					11																	76980034		2200	4292	6492	SO:0001583	missense	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76980034A>C	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.559T>G	11.37:g.76980034A>C	ENSP00000365390:p.Cys187Gly					GDPD4_ENST00000376217.2_Missense_Mutation_p.C187G	p.C187G	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN			8	809	-			187					Q7Z5B0	Missense_Mutation	SNP	ENST00000376217.2	37	c.559T>G		.	.	.	.	.	.	.	.	.	.	A	18.80	3.701994	0.68501	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.18016	2.24;2.31	5.07	5.07	0.68467	.	0.048437	0.85682	D	0.000000	T	0.44244	0.1284	M	0.82193	2.58	0.39621	D	0.970035	D	0.89917	1.0	D	0.87578	0.998	T	0.51395	-0.8711	10	0.72032	D	0.01	-20.3193	12.4733	0.55799	1.0:0.0:0.0:0.0	.	187	Q6W3E5-2	.	G	187	ENSP00000365390:C187G;ENSP00000320815:C187G	ENSP00000320815:C187G	C	-	1	0	GDPD4	76657682	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.346000	0.72999	2.136000	0.66102	0.533000	0.62120	TGC		0.438	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833		53	94	53	94	---	---	---	---
IGFBP6	3489	broad.mit.edu	37	12	53494618	53494618	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr12:53494618G>A	ENST00000301464.3	+	2	730	c.457G>A	c.(457-459)Gcg>Acg	p.A153T	SOAT2_ENST00000301466.3_5'Flank|IGFBP6_ENST00000548547.1_Missense_Mutation_p.A151T|IGFBP6_ENST00000549628.1_3'UTR	NM_002178.2	NP_002169.1	P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	153					cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						GCCCAATTCTGCGGGTGTCCA	0.602																																					Esophageal Squamous(83;1656 1718 30141 34380)	ENST00000548547.1																			0				large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						c.(451-453)Gcg>Acg		insulin-like growth factor binding protein 6							91.0	90.0	90.0					12																	53494618		2203	4300	6503	SO:0001583	missense	3489				negative regulation of cell proliferation|regulation of cell growth|signal transduction			g.chr12:53494618G>A		CCDS8846.1	12q13	2008-07-28				ENSG00000167779			5475	protein-coding gene	gene with protein product		146735				1850258, 10087296	Standard	NM_002178		Approved		uc001sbu.1	P24592	OTTHUMG00000169773	ENST00000301464.3:c.457G>A	12.37:g.53494618G>A	ENSP00000301464:p.Ala153Thr					IGFBP6_ENST00000301464.3_Missense_Mutation_p.A153T|IGFBP6_ENST00000549628.1_3'UTR	p.A151T			P24592	IBP6_HUMAN			2	733	+			153					Q14492	Missense_Mutation	SNP	ENST00000301464.3	37	c.451G>A	CCDS8846.1	.	.	.	.	.	.	.	.	.	.	G	9.469	1.095087	0.20471	.	.	ENSG00000167779	ENST00000548547;ENST00000301464	T;T	0.61859	0.07;0.07	4.6	4.6	0.57074	Thyroglobulin type-1 (1);	1.769110	0.03092	N	0.159991	T	0.44222	0.1283	N	0.14661	0.345	0.09310	N	1	B	0.33073	0.396	B	0.32211	0.142	T	0.28038	-1.0056	10	0.13470	T	0.59	-7.7634	13.1109	0.59273	0.0:0.0:1.0:0.0	.	153	P24592	IBP6_HUMAN	T	151;153	ENSP00000448953:A151T;ENSP00000301464:A153T	ENSP00000301464:A153T	A	+	1	0	IGFBP6	51780885	0.856000	0.29760	0.079000	0.20413	0.045000	0.14185	4.321000	0.59209	2.564000	0.86499	0.655000	0.94253	GCG		0.602	IGFBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405813.1			14	66	14	66	---	---	---	---
MYO1E	4643	broad.mit.edu	37	15	59500983	59500983	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr15:59500983C>T	ENST00000288235.4	-	14	1826	c.1427G>A	c.(1426-1428)gGg>gAg	p.G476E		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	476	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CTGATCTGCCCCCTCACCCAC	0.537																																						ENST00000288235.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(1426-1428)gGg>gAg		myosin IE							160.0	134.0	142.0					15																	59500983		2191	4290	6481	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59500983C>T	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1427G>A	15.37:g.59500983C>T	ENSP00000288235:p.Gly476Glu						p.G476E	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	14	1826	-			476			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.1427G>A	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408774	0.96072	.	.	ENSG00000157483	ENST00000288235	D	0.87491	-2.26	5.37	5.37	0.77165	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.95345	0.8489	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95994	0.8988	10	0.87932	D	0	.	19.4857	0.95027	0.0:1.0:0.0:0.0	.	476	Q12965	MYO1E_HUMAN	E	476	ENSP00000288235:G476E	ENSP00000288235:G476E	G	-	2	0	MYO1E	57288275	1.000000	0.71417	0.982000	0.44146	0.937000	0.57800	7.750000	0.85110	2.677000	0.91161	0.561000	0.74099	GGG		0.537	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		13	54	13	54	---	---	---	---
CIRH1A	84916	broad.mit.edu	37	16	69194341	69194341	+	Missense_Mutation	SNP	T	T	A	rs200233638		TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr16:69194341T>A	ENST00000314423.7	+	13	1704	c.1527T>A	c.(1525-1527)caT>caA	p.H509Q	CIRH1A_ENST00000352319.4_Missense_Mutation_p.H394Q|CIRH1A_ENST00000563094.1_Missense_Mutation_p.H509Q			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	509					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CTGGAGTCCATGTCTACAACG	0.478																																					Melanoma(69;1156 1278 4951 8715 52012)	ENST00000563094.1																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(1525-1527)caT>caA		cirrhosis, autosomal recessive 1A (cirhin)							249.0	216.0	227.0					16																	69194341		2198	4300	6498	SO:0001583	missense	84916					nucleolus	protein binding	g.chr16:69194341T>A	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1527T>A	16.37:g.69194341T>A	ENSP00000327179:p.His509Gln					CIRH1A_ENST00000352319.4_Missense_Mutation_p.H394Q|CIRH1A_ENST00000314423.7_Missense_Mutation_p.H509Q	p.H509Q			Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	13	1561	+			509					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	c.1527T>A	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	T	8.459	0.854882	0.17106	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.30182	1.54;2.29	5.89	-6.67	0.01783	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.354015	0.34411	N	0.003989	T	0.22044	0.0531	L	0.39898	1.24	0.19300	N	0.999971	B;B	0.06786	0.0;0.001	B;B	0.10450	0.005;0.003	T	0.02109	-1.1212	10	0.27785	T	0.31	.	18.3362	0.90288	0.0:0.6459:0.0:0.3541	.	509;509	Q969X6;Q969X6-3	CIR1A_HUMAN;.	Q	509;394	ENSP00000327179:H509Q;ENSP00000339164:H394Q	ENSP00000327179:H509Q	H	+	3	2	CIRH1A	67751842	0.382000	0.25148	0.264000	0.24511	0.877000	0.50540	-0.359000	0.07632	-1.753000	0.01323	-0.417000	0.06048	CAT		0.478	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		4	82	4	82	---	---	---	---
CDH13	1012	broad.mit.edu	37	16	83636156	83636156	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr16:83636156T>A	ENST00000566620.1	+	8	1348	c.1058T>A	c.(1057-1059)aTc>aAc	p.I353N	CDH13_ENST00000268613.10_Missense_Mutation_p.I400N|CDH13_ENST00000428848.3_Missense_Mutation_p.I314N	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	353	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ACGATCATGATCGATGACAAA	0.453																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(1057-1059)aTc>aAc		cadherin 13							186.0	183.0	184.0					16																	83636156		1951	4173	6124	SO:0001583	missense	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83636156T>A	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1058T>A	16.37:g.83636156T>A	ENSP00000454435:p.Ile353Asn					CDH13_ENST00000428848.3_Missense_Mutation_p.I314N|CDH13_ENST00000268613.10_Missense_Mutation_p.I400N	p.I353N	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	8	1348	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	353			Cadherin 2.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.1058T>A	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.592403	0.86953	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000540531	T	0.59083	0.29	6.02	6.02	0.97574	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.81202	0.4773	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.994;0.997;1.0	D	0.85418	0.1141	9	0.87932	D	0	.	15.3796	0.74645	0.0:0.0:0.0:1.0	.	314;400;353	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	N	400;353;314;55;43	ENSP00000268613:I400N	ENSP00000268613:I400N	I	+	2	0	CDH13	82193657	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	6.225000	0.72271	2.311000	0.77944	0.533000	0.62120	ATC		0.453	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		34	115	34	115	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49434822	49434822	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr12:49434822delA	ENST00000301067.7	-	31	6730	c.6731delT	c.(6730-6732)ttcfs	p.F2244fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2244	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGGTTTGAGGAATGGGTCAGG	0.662																																						ENST00000301067.7																			0											c.(6730-6732)ttcfs		lysine (K)-specific methyltransferase 2D							46.0	52.0	50.0					12																	49434822		1932	4130	6062	SO:0001589	frameshift_variant	8085							g.chr12:49434822delA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6731delT	12.37:g.49434822delA	ENSP00000301067:p.Phe2244fs						p.F2244fs	NM_003482.3	NP_003473.3					31	6730	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.6731delT	CCDS44873.1																																																																																				0.662	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			11	41	11	41	---	---	---	---
SLC1A6	6511	broad.mit.edu	37	19	15083615	15083616	+	Frame_Shift_Del	DEL	GC	GC	-	rs372266621		TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr19:15083615_15083616delGC	ENST00000221742.3	-	1	114_115	c.107_108delGC	c.(106-108)cgcfs	p.R36fs	SLC1A6_ENST00000600144.1_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000598504.1_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000430939.2_Frame_Shift_Del_p.H41fs|SLC1A6_ENST00000544886.2_Frame_Shift_Del_p.R36fs	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	36					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GCAGGCGCGTGCGCAGTGCTCT	0.678																																						ENST00000598504.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(106-108)cgcfs		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15083615_15083616delGC		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.107_108delGC	19.37:g.15083617_15083618delGC	ENSP00000221742:p.Arg36fs					SLC1A6_ENST00000221742.3_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000600144.1_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000544886.2_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000430939.2_Frame_Shift_Del_p.H41fs	p.R36fs	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN			4	1466_1467	-			36					Q8N753	Frame_Shift_Del	DEL	ENST00000221742.3	37	c.107_108delGC	CCDS12321.1																																																																																				0.678	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		9	22	9	22	---	---	---	---
ERF	2077	broad.mit.edu	37	19	42754713	42754713	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr19:42754713delA	ENST00000222329.4	-	2	184	c.27delT	c.(25-27)tttfs	p.F9fs	ERF_ENST00000440177.2_5'UTR|ERF_ENST00000595941.1_5'UTR|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	9					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CCGGGAAGGCAAACCCTGGGG	0.637																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(25-27)tttfs		Ets2 repressor factor							32.0	28.0	29.0					19																	42754713		2203	4300	6503	SO:0001589	frameshift_variant	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42754713delA	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.27delT	19.37:g.42754713delA	ENSP00000222329:p.Phe9fs					ERF_ENST00000440177.2_5'UTR|ERF_ENST00000595941.1_5'UTR|AC006486.9_ENST00000594664.1_Intron	p.F9fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			2	184	-		Prostate(69;0.00682)	9					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Frame_Shift_Del	DEL	ENST00000222329.4	37	c.27delT	CCDS12600.1																																																																																				0.637	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		10	13	10	13	---	---	---	---
SDCBP2	27111	broad.mit.edu	37	20	1293985	1293985	+	Splice_Site	DEL	T	T	-			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr20:1293985delT	ENST00000360779.3	-	5	556	c.383delA	c.(382-384)cag>cg	p.Q128fs	SDCBP2_ENST00000381812.1_Splice_Site_p.Q128fs|SDCBP2_ENST00000381808.3_Splice_Site_p.Q43fs|SDCBP2_ENST00000467129.1_5'Flank|SDCBP2_ENST00000339987.3_Splice_Site_p.Q128fs	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	128	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						GCGCCCTACCTGGTCGACCTT	0.697																																						ENST00000360779.3																			0				endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						c.(382-384)cag>cg		syndecan binding protein (syntenin) 2							24.0	22.0	23.0					20																	1293985		2202	4296	6498	SO:0001630	splice_region_variant	27111				intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity	g.chr20:1293985delT	AF131809	CCDS13013.1, CCDS42848.1	20p13	2008-07-02			ENSG00000125775	ENSG00000125775			15756	protein-coding gene	gene with protein product						11152476	Standard	NM_080489		Approved	ST-2, SITAC18	uc021vzn.1	Q9H190	OTTHUMG00000031661	ENST00000360779.3:c.384+1A>-	20.37:g.1293985delT						SDCBP2_ENST00000381812.1_Splice_Site_p.Q128fs|SDCBP2_ENST00000339987.3_Splice_Site_p.Q128fs|SDCBP2_ENST00000381808.3_Splice_Site_p.Q43fs	p.Q128fs	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN			5	556	-			128			PDZ 1.		O95892|Q5W0X1|Q9BZ42|Q9H567|Q9NRY8	Splice_Site	DEL	ENST00000360779.3	37	c.383delA	CCDS42848.1																																																																																				0.697	SDCBP2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077513.2	NM_080489	Frame_Shift_Del	2	4	2	4	---	---	---	---
