#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
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					protein targeting to Golgi (GO:0000042)			p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373																																						ENST00000409886.3																			4	Substitution - coding silent(4)	p.A772A(4)	kidney(2)|endometrium(2)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2314-2316)gcG>gcA		RANBP2-like and GRIP domain containing 3							81.0	68.0	72.0					2																	107049631		692	1590	2282	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107049631C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2316G>A	2.37:g.107049631C>T						RGPD3_ENST00000304514.7_Silent_p.A772A	p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2403	-			772					B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.2316G>A	CCDS46379.1																																																																																				0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		7	327	0	0	0	1	0	7	327				
MED30	90390	broad.mit.edu	37	8	118533268	118533268	+	Silent	SNP	C	C	A			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr8:118533268C>A	ENST00000297347.3	+	1	317	c.153C>A	c.(151-153)atC>atA	p.I51I	MED30_ENST00000522839.1_Silent_p.I51I	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	51					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			CCATGGAGATCTTCCAGCTCC	0.657																																					Melanoma(81;817 1341 9674 26244 29255)	ENST00000297347.3																			0				kidney(1)|lung(3)|prostate(3)	7						c.(151-153)atC>atA		mediator complex subunit 30							37.0	34.0	35.0					8																	118533268		2203	4299	6502	SO:0001819	synonymous_variant	90390				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr8:118533268C>A	AY083305	CCDS6323.1, CCDS64959.1	8q24.11	2007-07-30	2007-07-30	2007-07-30	ENSG00000164758	ENSG00000164758			23032	protein-coding gene	gene with protein product		610237	"""thyroid hormone receptor associated protein 6"""	THRAP6			Standard	NM_080651		Approved	TRAP25	uc003yoj.3	Q96HR3	OTTHUMG00000164920	ENST00000297347.3:c.153C>A	8.37:g.118533268C>A						MED30_ENST00000522839.1_Silent_p.I51I	p.I51I	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	STAD - Stomach adenocarcinoma(47;0.0266)		1	317	+	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		51					C6GKU9	Silent	SNP	ENST00000297347.3	37	c.153C>A	CCDS6323.1																																																																																				0.657	MED30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380923.1	NM_080651		28	19	1	0	1.74807e-11	1	1.90141e-11	28	19				
TXNDC2	84203	broad.mit.edu	37	18	9887095	9887095	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr18:9887095G>A	ENST00000306084.6	+	2	818	c.619G>A	c.(619-621)Ggt>Agt	p.G207S	TXNDC2_ENST00000357775.5_Missense_Mutation_p.G140S|TXNDC2_ENST00000536353.2_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	207	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GCCCAAAGAGGGTGACATCCC	0.567																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(619-621)Ggt>Agt		thioredoxin domain containing 2 (spermatozoa)							154.0	156.0	156.0					18																	9887095		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887095G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.619G>A	18.37:g.9887095G>A	ENSP00000304908:p.Gly207Ser					TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.G140S	p.G207S	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	818	+			207			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.619G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	g	11.35	1.613876	0.28712	.	.	ENSG00000168454	ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.32023	1.47;1.47	3.48	2.6	0.31112	.	2.625390	0.01765	N	0.030819	T	0.38295	0.1035	N	0.15975	0.35	0.20926	N	0.999829	D	0.69078	0.997	D	0.65773	0.938	T	0.42292	-0.9460	9	.	.	.	0.6616	8.8589	0.35245	0.1164:0.0:0.8836:0.0	.	207	Q86VQ3	TXND2_HUMAN	S	140;207;207	ENSP00000350419:G140S;ENSP00000304908:G207S	.	G	+	1	0	TXNDC2	9877095	0.004000	0.15560	0.001000	0.08648	0.003000	0.03518	1.373000	0.34272	0.850000	0.35239	0.545000	0.68477	GGT		0.567	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			4	125	0	0	0	1	0	4	125				
PPP1R1A	5502	broad.mit.edu	37	12	54974737	54974737	+	Silent	SNP	T	T	C			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr12:54974737T>C	ENST00000257905.8	-	6	671	c.501A>G	c.(499-501)ggA>ggG	p.G167G	PPP1R1A_ENST00000547431.1_Missense_Mutation_p.E94G	NM_006741.3	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	167	Interaction with PPP1R15A.				glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			lung(2)	2						CCGAGTTGGCTCCCTTGGAAT	0.498																																						ENST00000547431.1																			0				lung(2)	2						c.(280-282)gAg>gGg		protein phosphatase 1, regulatory (inhibitor) subunit 1A							228.0	221.0	223.0					12																	54974737		1863	4101	5964	SO:0001819	synonymous_variant	5502				glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity	g.chr12:54974737T>C	U48707	CCDS44912.1	12q13.2	2012-04-17			ENSG00000135447	ENSG00000135447	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9286	protein-coding gene	gene with protein product		613246				8611507	Standard	NM_006741		Approved		uc001sgg.2	Q13522	OTTHUMG00000169934	ENST00000257905.8:c.501A>G	12.37:g.54974737T>C						PPP1R1A_ENST00000257905.8_Silent_p.G167G	p.E94G			Q13522	PPR1A_HUMAN			4	308	-			95					Q6IB01|Q8TBJ2|Q8WWV2	Missense_Mutation	SNP	ENST00000257905.8	37	c.281A>G	CCDS44912.1	.	.	.	.	.	.	.	.	.	.	T	3.318	-0.139332	0.06669	.	.	ENSG00000135447	ENST00000379690;ENST00000553113	.	.	.	4.81	0.61	0.17580	.	.	.	.	.	T	0.51839	0.1698	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39921	-0.9590	4	.	.	.	.	6.1658	0.20390	0.0:0.4499:0.0:0.5501	.	.	.	.	G	94;86	.	.	E	-	2	0	PPP1R1A	53261004	0.996000	0.38824	0.987000	0.45799	0.232000	0.25224	-0.006000	0.12833	0.265000	0.21872	-0.366000	0.07423	GAG		0.498	PPP1R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406604.1	NM_006741		71	114	0	0	0	1	0	71	114				
GLS2	27165	broad.mit.edu	37	12	56868873	56868873	+	Silent	SNP	T	T	C	rs376381453		TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr12:56868873T>C	ENST00000311966.4	-	10	1229	c.951A>G	c.(949-951)acA>acG	p.T317T	GLS2_ENST00000476991.1_5'UTR	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	317					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	TCCGATCCCCTGTTTCCTTCT	0.473													T|||	1	0.000199681	0.0	0.0	5008	,	,		2279	0.0		0.0	False		,,,				2504	0.001					ENST00000311966.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(949-951)acA>acG		glutaminase 2 (liver, mitochondrial)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	T		0,4406		0,0,2203	149.0	158.0	155.0		951	-9.4	0.9	12		155	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GLS2	NM_013267.2		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		317/603	56868873	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27165				cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	g.chr12:56868873T>C		CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.951A>G	12.37:g.56868873T>C						GLS2_ENST00000476991.1_5'UTR	p.T317T	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN			10	1229	-			317					B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Silent	SNP	ENST00000311966.4	37	c.951A>G	CCDS8921.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.135197	0.37728	0.0	1.16E-4	ENSG00000135423	ENST00000461077	.	.	.	5.03	-9.4	0.00616	.	.	.	.	.	T	0.32346	0.0826	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41875	-0.9484	5	0.25106	T	0.35	-11.8738	1.6931	0.02856	0.2832:0.331:0.0954:0.2904	.	.	.	.	R	173	.	ENSP00000417244:Q173R	Q	-	2	0	GLS2	55155140	0.000000	0.05858	0.925000	0.36789	0.999000	0.98932	-3.060000	0.00624	-1.326000	0.02266	0.533000	0.62120	CAG		0.473	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267		32	98	0	0	0	1	0	32	98				
LIPI	149998	broad.mit.edu	37	21	15561724	15561724	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr21:15561724G>T	ENST00000536861.1	-	2	62	c.63C>A	c.(61-63)tgC>tgA	p.C21*	LIPI_ENST00000344577.2_Nonsense_Mutation_p.C42*			Q6XZB0	LIPI_HUMAN	lipase, member I	21					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AGAATTCAAGGCATGGTCTTT	0.338																																						ENST00000344577.2																			0				endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54						c.(124-126)tgC>tgA		lipase, member I							76.0	81.0	79.0					21																	15561724		2201	4298	6499	SO:0001587	stop_gained	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15561724G>T	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.63C>A	21.37:g.15561724G>T	ENSP00000440381:p.Cys21*					LIPI_ENST00000536861.1_Nonsense_Mutation_p.C21*	p.C42*	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	2	151	-			21					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Nonsense_Mutation	SNP	ENST00000536861.1	37	c.126C>A		.	.	.	.	.	.	.	.	.	.	G	23.8	4.463008	0.84425	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	.	.	.	5.3	2.28	0.28536	.	430.513000	0.01749	U	0.029834	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4916	0.33104	0.3641:0.0:0.6359:0.0	.	.	.	.	X	42;21	.	ENSP00000343331:C42X	C	-	3	2	LIPI	14483595	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	0.810000	0.27183	0.631000	0.30412	0.655000	0.94253	TGC		0.338	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		16	50	1	0	4.96729e-08	1	5.21986e-08	16	50				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	6	0	0	0	1	0	4	6				
PCDHA10	56139	broad.mit.edu	37	5	140235918	140235918	+	Silent	SNP	C	C	T			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr5:140235918C>T	ENST00000307360.5	+	1	285	c.285C>T	c.(283-285)tgC>tgT	p.C95C	PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.C95C|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	95	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGCTGTGCGGGCGGAGCG	0.557																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(283-285)tgC>tgT									124.0	132.0	129.0					5																	140235918		2198	4277	6475	SO:0001819	synonymous_variant	0							g.chr5:140235918C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.285C>T	5.37:g.140235918C>T						PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.C95C|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	p.C95C	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	285	+								A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.285C>T	CCDS54921.1																																																																																				0.557	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		4	203	0	0	0	1	0	4	203				
SLC6A6	6533	broad.mit.edu	37	3	14509388	14509388	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr3:14509388T>C	ENST00000454876.2	+	8	1224	c.895T>C	c.(895-897)Ttc>Ctc	p.F299L	SLC6A6_ENST00000360861.3_Missense_Mutation_p.F299L			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	299					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GACTCAGATATTCTTCTCTTA	0.577											OREG0015421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000454876.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(895-897)Ttc>Ctc		solute carrier family 6 (neurotransmitter transporter), member 6							58.0	54.0	56.0					3																	14509388		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14509388T>C		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.895T>C	3.37:g.14509388T>C	ENSP00000398063:p.Phe299Leu		OREG0015421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	695	SLC6A6_ENST00000360861.3_Missense_Mutation_p.F299L	p.F299L			P31641	SC6A6_HUMAN			8	1224	+			299					B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.895T>C	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.403228	0.62288	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.79845	-1.31;-1.31	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.85410	0.5690	M	0.89030	3	0.80722	D	1	B	0.32507	0.373	B	0.37550	0.253	D	0.86708	0.1934	10	0.66056	D	0.02	.	15.332	0.74219	0.0:0.0:0.0:1.0	.	299	P31641	SC6A6_HUMAN	L	299	ENSP00000398063:F299L;ENSP00000354107:F299L	ENSP00000354107:F299L	F	+	1	0	SLC6A6	14484392	1.000000	0.71417	0.985000	0.45067	0.316000	0.28119	8.013000	0.88655	2.021000	0.59480	0.383000	0.25322	TTC		0.577	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		13	25	0	0	0	1	0	13	25				
DST	667	broad.mit.edu	37	6	56341013	56341013	+	Silent	SNP	A	A	T			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr6:56341013A>T	ENST00000361203.3	-	87	20845	c.20838T>A	c.(20836-20838)acT>acA	p.T6946T	DST_ENST00000370788.2_Silent_p.T4860T|DST_ENST00000244364.6_Silent_p.T4643T|DST_ENST00000446842.2_Silent_p.T6731T|DST_ENST00000312431.6_3'UTR|DST_ENST00000370754.5_Silent_p.T7235T|DST_ENST00000421834.2_Silent_p.T4969T|DST_ENST00000370769.4_Silent_p.T7057T			Q03001	DYST_HUMAN	dystonin	6945					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATCCTTATCAGTAAGTGTAG	0.433																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(21703-21705)acT>acA		dystonin							76.0	74.0	75.0					6																	56341013		1919	4119	6038	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56341013A>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20838T>A	6.37:g.56341013A>T						DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Silent_p.T6731T|DST_ENST00000370769.4_Silent_p.T7057T|DST_ENST00000244364.6_Silent_p.T4643T|DST_ENST00000421834.2_Silent_p.T4969T|DST_ENST00000370788.2_Silent_p.T4860T|DST_ENST00000361203.3_Silent_p.T6946T	p.T7235T			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		92	21704	-	Lung NSC(77;0.103)		7055			EF-hand 2.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.21705T>A																																																																																					0.433	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		12	21	0	0	0	1	0	12	21				
EI24	9538	broad.mit.edu	37	11	125452260	125452260	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr11:125452260C>G	ENST00000278903.6	+	10	1046	c.804C>G	c.(802-804)atC>atG	p.I268M	STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR|EI24_ENST00000343678.4_Missense_Mutation_p.S231C|STT3A-AS1_ENST00000532714.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	268					apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		TTTTCTCTATCCTCTTTCCTT	0.353																																						ENST00000278903.6																			0				large_intestine(1)|lung(9)|ovary(1)	11						c.(802-804)atC>atG		etoposide induced 2.4							26.0	25.0	25.0					11																	125452260		1812	4063	5875	SO:0001583	missense	9538				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		g.chr11:125452260C>G	AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 4 homolog (C. elegans)"""	605170	"""etoposide induced 2.4 mRNA"""			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.804C>G	11.37:g.125452260C>G	ENSP00000278903:p.Ile268Met					STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR|EI24_ENST00000343678.4_Missense_Mutation_p.S231C	p.I268M	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)	10	1046	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	268					A8K7D6|B4DKL6|Q9BUQ1	Missense_Mutation	SNP	ENST00000278903.6	37	c.804C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.39|12.39	1.923508|1.923508	0.33908|0.33908	.|.	.|.	ENSG00000149547|ENSG00000149547	ENST00000278903|ENST00000343678	.|.	.|.	.|.	5.52|5.52	4.61|4.61	0.57282|0.57282	.|.	0.056030|.	0.64402|.	D|.	0.000001|.	T|T	0.53351|0.53351	0.1791|0.1791	L|L	0.39467|0.39467	1.215|1.215	0.44862|0.44862	D|D	0.997873|0.997873	D;D|D	0.59767|0.63046	0.986;0.986|0.992	P;P|P	0.60473|0.54372	0.875;0.875|0.75	T|T	0.52457|0.52457	-0.8573|-0.8573	9|8	0.52906|0.44086	T|T	0.07|0.13	.|.	9.7071|9.7071	0.40222|0.40222	0.0:0.8397:0.0:0.1603|0.0:0.8397:0.0:0.1603	.|.	254;268|231	B4DKL6;O14681|A6NES3	.;EI24_HUMAN|.	M|C	268|231	.|.	ENSP00000278903:I268M|ENSP00000364081:S231C	I|S	+|+	3|2	3|0	EI24|EI24	124957470|124957470	0.956000|0.956000	0.32656|0.32656	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	0.099000|0.099000	0.15210|0.15210	1.336000|1.336000	0.45506|0.45506	0.650000|0.650000	0.86243|0.86243	ATC|TCC		0.353	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004879		3	10	0	0	0	1	0	3	10				
CDC20	991	broad.mit.edu	37	1	43825643	43825643	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr1:43825643A>T	ENST00000372462.1	+	4	634	c.431A>T	c.(430-432)tAt>tTt	p.Y144F	RP1-92O14.3_ENST00000424948.1_RNA|CDC20_ENST00000310955.6_Missense_Mutation_p.Y144F|CDC20_ENST00000478882.1_3'UTR			Q12834	CDC20_HUMAN	cell division cycle 20	144					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCACAGGTTATCAGAACAGA	0.522																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)	ENST00000372462.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(430-432)tAt>tTt		cell division cycle 20							152.0	166.0	161.0					1																	43825643		2203	4300	6503	SO:0001583	missense	991				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding	g.chr1:43825643A>T	U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"""WD repeat domain containing"""	1723	protein-coding gene	gene with protein product		603618	"""CDC20 (cell division cycle 20, S. cerevisiae, homolog)"", ""CDC20 cell division cycle 20 homolog (S. cerevisiae)"", ""cell division cycle 20 homolog (S. cerevisiae)"""			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.431A>T	1.37:g.43825643A>T	ENSP00000361540:p.Tyr144Phe					CDC20_ENST00000478882.1_3'UTR|CDC20_ENST00000310955.6_Missense_Mutation_p.Y144F	p.Y144F			Q12834	CDC20_HUMAN			4	634	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	144					B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	ENST00000372462.1	37	c.431A>T	CCDS484.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781072	0.49891	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.08282	3.11;3.11	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.09818	0.0241	L	0.39397	1.21	0.58432	D	0.999998	B	0.25390	0.125	B	0.25759	0.063	T	0.16689	-1.0394	10	0.30078	T	0.28	-16.6616	16.3721	0.83368	1.0:0.0:0.0:0.0	.	144	Q12834	CDC20_HUMAN	F	120;144;144	ENSP00000308450:Y144F;ENSP00000361540:Y144F	ENSP00000308450:Y144F	Y	+	2	0	CDC20	43598230	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.399000	0.79935	2.257000	0.74773	0.533000	0.62120	TAT		0.522	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		5	158	0	0	0	1	0	5	158				
ZMYND15	84225	broad.mit.edu	37	17	4648068	4648068	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr17:4648068T>C	ENST00000433935.1	+	11	1889	c.1832T>C	c.(1831-1833)gTt>gCt	p.V611A	ZMYND15_ENST00000573751.2_Missense_Mutation_p.V611A|ZMYND15_ENST00000592813.1_Missense_Mutation_p.V572A|ZMYND15_ENST00000269289.6_Missense_Mutation_p.V572A	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	611					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CCTGACCTGGTTATTGGTAAA	0.602																																						ENST00000433935.1																			0				endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						c.(1831-1833)gTt>gCt		zinc finger, MYND-type containing 15							59.0	63.0	61.0					17																	4648068		2203	4300	6503	SO:0001583	missense	84225						zinc ion binding	g.chr17:4648068T>C	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.1832T>C	17.37:g.4648068T>C	ENSP00000391742:p.Val611Ala					ZMYND15_ENST00000573751.2_Missense_Mutation_p.V611A|ZMYND15_ENST00000269289.6_Missense_Mutation_p.V572A|ZMYND15_ENST00000592813.1_Missense_Mutation_p.V572A	p.V611A	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN			11	1889	+			572					B4DXY5|I3L296	Missense_Mutation	SNP	ENST00000433935.1	37	c.1832T>C	CCDS45584.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.734992	0.69189	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.60171	0.23;0.21	5.18	4.11	0.48088	.	0.110839	0.38778	N	0.001579	T	0.65375	0.2685	L	0.50333	1.59	0.29520	N	0.853577	D;D	0.69078	0.997;0.983	P;D	0.64877	0.907;0.93	T	0.62300	-0.6883	10	0.51188	T	0.08	-13.4405	9.0099	0.36135	0.0:0.0872:0.0:0.9128	.	611;572	B4DXY5;Q9H091	.;ZMY15_HUMAN	A	611;572	ENSP00000391742:V611A;ENSP00000269289:V572A	ENSP00000269289:V572A	V	+	2	0	ZMYND15	4594817	1.000000	0.71417	0.989000	0.46669	0.974000	0.67602	4.901000	0.63259	0.997000	0.38969	0.460000	0.39030	GTT		0.602	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		16	19	0	0	0	1	0	16	19				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		7	469	0	0	0	1	0	7	469				
TXNDC2	84203	broad.mit.edu	37	18	9887098	9887098	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr18:9887098G>A	ENST00000306084.6	+	2	821	c.622G>A	c.(622-624)Gac>Aac	p.D208N	TXNDC2_ENST00000357775.5_Missense_Mutation_p.D141N|TXNDC2_ENST00000536353.2_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	208	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CAAAGAGGGTGACATCCCCAA	0.557																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(622-624)Gac>Aac		thioredoxin domain containing 2 (spermatozoa)							153.0	155.0	155.0					18																	9887098		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887098G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.622G>A	18.37:g.9887098G>A	ENSP00000304908:p.Asp208Asn					TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.D141N	p.D208N	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	821	+			208			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.622G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	g	10.07	1.250361	0.22880	.	.	ENSG00000168454	ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16597	2.33;2.33	3.48	-2.02	0.07388	.	1.585230	0.03971	N	0.291645	T	0.17959	0.0431	L	0.35644	1.08	0.09310	N	1	P	0.51791	0.948	P	0.49421	0.61	T	0.24693	-1.0153	9	.	.	.	-2.6537	4.7666	0.13135	0.3069:0.2422:0.4509:0.0	.	208	Q86VQ3	TXND2_HUMAN	N	141;208;208	ENSP00000350419:D141N;ENSP00000304908:D208N	.	D	+	1	0	TXNDC2	9877098	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.576000	0.02129	-0.114000	0.11936	-0.428000	0.05917	GAC		0.557	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			4	121	0	0	0	1	0	4	121				
LOC81691	81691	broad.mit.edu	37	16	20856421	20856421	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr16:20856421C>T	ENST00000261377.6	+	18	2191	c.1982C>T	c.(1981-1983)aCa>aTa	p.T661I	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.T630I|AC004381.6_ENST00000564274.1_Missense_Mutation_p.T661I	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					AACATTCTCACAGGCAAGGAC	0.532																																						ENST00000261377.6																			0											c.(1981-1983)aCa>aTa									72.0	68.0	69.0					16																	20856421		2201	4300	6501	SO:0001583	missense	0							g.chr16:20856421C>T																												ENST00000261377.6:c.1982C>T	16.37:g.20856421C>T	ENSP00000261377:p.Thr661Ile					AC004381.6_ENST00000564274.1_Missense_Mutation_p.T661I|AC004381.6_ENST00000348433.6_Missense_Mutation_p.T630I|ERI2_ENST00000564349.1_Intron	p.T661I	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2					18	2191	+									Missense_Mutation	SNP	ENST00000261377.6	37	c.1982C>T	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239518	0.58995	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.43688	0.94;3.34	5.53	-8.73	0.00841	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.837922	0.11144	N	0.594968	T	0.44953	0.1318	L	0.54323	1.7	0.09310	N	1	P;P	0.47962	0.903;0.716	P;B	0.53861	0.736;0.3	T	0.57183	-0.7855	10	0.72032	D	0.01	0.0103	12.669	0.56857	0.6312:0.1207:0.2482:0.0	.	630;661	Q96IC2-2;Q96IC2	.;REXON_HUMAN	I	630;661	ENSP00000261378:T630I;ENSP00000261377:T661I	ENSP00000261377:T661I	T	+	2	0	AC004381.6	20763922	0.000000	0.05858	0.012000	0.15200	0.944000	0.59088	-1.277000	0.02812	-1.577000	0.01650	0.561000	0.74099	ACA		0.532	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			20	29	0	0	0	1	0	20	29				
CSDC2	27254	broad.mit.edu	37	22	41970869	41970869	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr22:41970869G>C	ENST00000306149.7	+	4	976	c.432G>C	c.(430-432)gaG>gaC	p.E144D		NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN	cold shock domain containing C2, RNA binding	144					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			prostate(2)|upper_aerodigestive_tract(1)	3						CTCCCCACGAGACGTGGTCTG	0.652																																					NSCLC(181;294 2110 12667 14717 31090)	ENST00000306149.7																			0				prostate(2)|upper_aerodigestive_tract(1)	3						c.(430-432)gaG>gaC		cold shock domain containing C2, RNA binding							55.0	41.0	46.0					22																	41970869		2201	4298	6499	SO:0001583	missense	27254				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|RNA binding	g.chr22:41970869G>C	AL834417	CCDS14019.1	22q13.2	2006-02-24			ENSG00000172346	ENSG00000172346			30359	protein-coding gene	gene with protein product						8573167, 12767259	Standard	NM_014460		Approved	PIPPin	uc003bak.1	Q9Y534	OTTHUMG00000150967	ENST00000306149.7:c.432G>C	22.37:g.41970869G>C	ENSP00000302485:p.Glu144Asp						p.E144D	NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN			4	976	+			144					Q8ND37	Missense_Mutation	SNP	ENST00000306149.7	37	c.432G>C	CCDS14019.1	.	.	.	.	.	.	.	.	.	.	g	29.2	4.986549	0.93106	.	.	ENSG00000172346	ENST00000306149	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.77412	0.4126	M	0.87456	2.885	0.80722	D	1	P	0.41188	0.741	P	0.53809	0.735	T	0.80701	-0.1265	9	0.72032	D	0.01	.	12.9045	0.58143	0.0776:0.0:0.9224:0.0	.	144	Q9Y534	CSDC2_HUMAN	D	144	.	ENSP00000302485:E144D	E	+	3	2	CSDC2	40300815	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.564000	0.82326	2.604000	0.88044	0.651000	0.88453	GAG		0.652	CSDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320689.1	NM_014460		5	10	0	0	0	1	0	5	10				
ROBO2	6092	broad.mit.edu	37	3	77651486	77651486	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr3:77651486G>A	ENST00000461745.1	+	20	3880	c.2980G>A	c.(2980-2982)Gct>Act	p.A994T	ROBO2_ENST00000332191.8_Missense_Mutation_p.A994T|ROBO2_ENST00000487694.3_Missense_Mutation_p.A1010T	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	994					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AATAACACAGGCTACCCCATA	0.438																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(2980-2982)Gct>Act		roundabout, axon guidance receptor, homolog 2 (Drosophila)							111.0	106.0	108.0					3																	77651486		2017	4178	6195	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77651486G>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2980G>A	3.37:g.77651486G>A	ENSP00000417164:p.Ala994Thr					ROBO2_ENST00000332191.8_Missense_Mutation_p.A994T|ROBO2_ENST00000487694.3_Missense_Mutation_p.A1010T	p.A994T	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	20	3880	+			994					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.2980G>A	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.09|15.09	2.730411|2.730411	0.48939|0.48939	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191|ENST00000398467;ENST00000471893	T;T;T|.	0.61158|.	0.13;0.17;0.13|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.000000|.	0.45606|.	D|.	0.000349|.	T|T	0.28001|0.28001	0.0690|0.0690	N|N	0.03608|0.03608	-0.345|-0.345	0.31297|.	N|.	0.688752|.	B;B;B|.	0.06786|.	0.001;0.001;0.0|.	B;B;B|.	0.09377|.	0.003;0.004;0.003|.	T|T	0.39418|0.39418	-0.9615|-0.9615	9|5	0.36615|0.15066	T|T	0.2|0.55	.|.	13.3588|13.3588	0.60644|0.60644	0.0719:0.0:0.9281:0.0|0.0719:0.0:0.9281:0.0	.|.	1010;994;994|.	Q19AB5;F8W703;Q9HCK4|.	.;.;ROBO2_HUMAN|.	T|D	1010;1010;1014;994;994|555;68	ENSP00000417335:A1010T;ENSP00000417164:A994T;ENSP00000327536:A994T|.	ENSP00000327536:A994T|ENSP00000381485:G555D	A|G	+|+	1|2	0|0	ROBO2|ROBO2	77734176|77734176	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.690000|7.690000	0.84178|0.84178	2.769000|2.769000	0.95229|0.95229	0.561000|0.561000	0.74099|0.74099	GCT|GGC		0.438	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		21	25	0	0	0	1	0	21	25				
LAMA1	284217	broad.mit.edu	37	18	7049115	7049115	+	Missense_Mutation	SNP	G	G	A	rs200626690		TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr18:7049115G>A	ENST00000389658.3	-	5	823	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	244	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TTAGGTTCCCGGTGGCTAAGG	0.428																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(730-732)Cgg>Tgg		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	TRP/ARG	0,4406		0,0,2203	123.0	105.0	111.0		730	5.0	1.0	18		111	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LAMA1	NM_005559.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	244/3076	7049115	1,13005	2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7049115G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.730C>T	18.37:g.7049115G>A	ENSP00000374309:p.Arg244Trp						p.R244W	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			5	823	-		Colorectal(10;0.172)	244			Laminin N-terminal.			Missense_Mutation	SNP	ENST00000389658.3	37	c.730C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685069	0.88639	0.0	1.16E-4	ENSG00000101680	ENST00000389658	T	0.20332	2.08	5.86	4.98	0.66077	Laminin, N-terminal (3);	0.150236	0.44097	D	0.000500	T	0.47746	0.1462	M	0.77486	2.375	0.44660	D	0.997646	D	0.89917	1.0	D	0.70716	0.97	T	0.53830	-0.8383	10	0.87932	D	0	.	15.2937	0.73885	0.0:0.0:0.7455:0.2545	.	244	P25391	LAMA1_HUMAN	W	244	ENSP00000374309:R244W	ENSP00000374309:R244W	R	-	1	2	LAMA1	7039115	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	3.069000	0.50026	1.457000	0.47850	0.563000	0.77884	CGG		0.428	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		30	57	0	0	0	1	0	30	57				
IGF1R	3480	broad.mit.edu	37	15	99251295	99251295	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr15:99251295A>G	ENST00000268035.6	+	2	1210	c.599A>G	c.(598-600)gAg>gGg	p.E200G	IGF1R_ENST00000558762.1_Missense_Mutation_p.E200G	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	200					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	ATCAACAATGAGTACAACTAC	0.517																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(598-600)gAg>gGg		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						116.0	104.0	108.0					15																	99251295		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99251295A>G	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.599A>G	15.37:g.99251295A>G	ENSP00000268035:p.Glu200Gly					IGF1R_ENST00000558762.1_Missense_Mutation_p.E200G	p.E200G	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		2	1210	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		200					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.599A>G	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.603956	0.46423	.	.	ENSG00000140443	ENST00000268035	D	0.97232	-4.3	5.01	5.01	0.66863	Furin-like cysteine-rich domain (1);	0.000000	0.51477	U	0.000086	D	0.94768	0.8311	L	0.45581	1.43	0.58432	D	0.999992	P;B	0.39940	0.696;0.003	B;B	0.37422	0.249;0.006	D	0.94955	0.8103	10	0.59425	D	0.04	.	14.1871	0.65612	1.0:0.0:0.0:0.0	.	200;200	C9J5X1;P08069	.;IGF1R_HUMAN	G	200	ENSP00000268035:E200G	ENSP00000268035:E200G	E	+	2	0	IGF1R	97068818	1.000000	0.71417	0.995000	0.50966	0.825000	0.46686	7.359000	0.79477	2.002000	0.58637	0.455000	0.32223	GAG		0.517	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		25	42	0	0	0	1	0	25	42				
ZIM3	114026	broad.mit.edu	37	19	57646680	57646680	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr19:57646680T>A	ENST00000269834.1	-	5	1410	c.1025A>T	c.(1024-1026)aAg>aTg	p.K342M	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAAAAGGCCTTCTCACATAT	0.408																																						ENST00000269834.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52						c.(1024-1026)aAg>aTg		zinc finger, imprinted 3							175.0	169.0	171.0					19																	57646680		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646680T>A	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1025A>T	19.37:g.57646680T>A	ENSP00000269834:p.Lys342Met						p.K342M	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1410	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	342					Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.1025A>T	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	T	13.02	2.111079	0.37242	.	.	ENSG00000141946	ENST00000269834	T	0.08193	3.12	2.71	2.71	0.32032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28499	0.0705	M	0.82193	2.58	0.23943	N	0.996392	D	0.89917	1.0	D	0.91635	0.999	T	0.02553	-1.1142	9	0.87932	D	0	.	8.871	0.35316	0.0:0.0:0.0:1.0	.	342	Q96PE6	ZIM3_HUMAN	M	342	ENSP00000269834:K342M	ENSP00000269834:K342M	K	-	2	0	ZIM3	62338492	0.918000	0.31147	0.951000	0.38953	0.579000	0.36224	2.020000	0.41010	1.237000	0.43756	0.260000	0.18958	AAG		0.408	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			59	88	0	0	0	1	0	59	88				
ALG1L2	644974	broad.mit.edu	37	3	129817063	129817063	+	RNA	SNP	C	C	T	rs201760303		TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr3:129817063C>T	ENST00000507643.1	+	0	647				AC083906.2_ENST00000578837.1_RNA			C9J202	AG1L2_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2								transferase activity, transferring glycosyl groups (GO:0016757)										CTCTGCTCTTCAGTATTTTGC	0.552																																						ENST00000507643.1																			0																																																			0				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129817063C>T	BC127756		3q22.1	2013-02-22	2013-02-22		ENSG00000251287	ENSG00000251287		"""Glycosyltransferase group 1 domain containing"""	37258	other	unknown			"""asparagine-linked glycosylation 1-like 2"""				Standard	NM_001136152		Approved		uc011bld.2	C9J202	OTTHUMG00000159782		3.37:g.129817063C>T										C9J202	AG1L2_HUMAN			0	647	+									RNA	SNP	ENST00000507643.1	37																																																																																						0.552	ALG1L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357289.1	NM_001136152		3	34	0	0	0	1	0	3	34				
OXCT1	5019	broad.mit.edu	37	5	41807484	41807484	+	Silent	SNP	C	C	T			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr5:41807484C>T	ENST00000196371.5	-	8	949	c.789G>A	c.(787-789)caG>caA	p.Q263Q	OXCT1_ENST00000509987.1_Silent_p.Q77Q	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	263					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	GTACATAAATCTGAGGAATAT	0.348																																						ENST00000196371.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28						c.(787-789)caG>caA		3-oxoacid CoA transferase 1	Succinic acid(DB00139)						124.0	122.0	123.0					5																	41807484		2203	4300	6503	SO:0001819	synonymous_variant	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41807484C>T	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.789G>A	5.37:g.41807484C>T						OXCT1_ENST00000509987.1_Silent_p.Q77Q	p.Q263Q	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN			8	949	-			263					B2R5V2|B7Z528	Silent	SNP	ENST00000196371.5	37	c.789G>A	CCDS3937.1																																																																																				0.348	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		27	98	0	0	0	1	0	27	98				
CHAT	1103	broad.mit.edu	37	10	50870746	50870746	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr10:50870746G>A	ENST00000337653.2	+	14	2048	c.1895G>A	c.(1894-1896)cGg>cAg	p.R632Q	CHAT_ENST00000351556.3_Missense_Mutation_p.R514Q|CHAT_ENST00000395562.2_Missense_Mutation_p.R550Q|CHAT_ENST00000395559.2_Missense_Mutation_p.R514Q|CHAT_ENST00000455728.2_Missense_Mutation_p.R514Q|CHAT_ENST00000339797.1_Missense_Mutation_p.R514Q	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	632					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GAGCTGGCCCGGGCCATGTGC	0.587																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(1648-1650)cGg>cAg		choline O-acetyltransferase	Choline(DB00122)						133.0	128.0	130.0					10																	50870746		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50870746G>A	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1895G>A	10.37:g.50870746G>A	ENSP00000337103:p.Arg632Gln					CHAT_ENST00000337653.2_Missense_Mutation_p.R632Q|CHAT_ENST00000395559.2_Missense_Mutation_p.R514Q|CHAT_ENST00000339797.1_Missense_Mutation_p.R514Q|CHAT_ENST00000351556.3_Missense_Mutation_p.R514Q|CHAT_ENST00000455728.2_Missense_Mutation_p.R514Q	p.R550Q	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	15	2118	+		all_neural(218;0.107)	632					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1649G>A	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	G	6.316	0.426417	0.11987	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.56	2.72	0.32119	.	0.258490	0.40385	N	0.001108	T	0.75324	0.3834	N	0.16790	0.44	0.42692	D	0.993587	B;B	0.27932	0.194;0.187	B;B	0.16289	0.008;0.015	T	0.63571	-0.6607	10	0.17369	T	0.5	-12.2358	8.5172	0.33253	0.2922:0.0:0.7078:0.0	.	514;632	F8W8I2;P28329	.;CLAT_HUMAN	Q	514;514;514;632;550;514	ENSP00000343486:R514Q;ENSP00000345878:R514Q;ENSP00000378926:R514Q;ENSP00000337103:R632Q;ENSP00000378929:R550Q;ENSP00000390521:R514Q	ENSP00000337103:R632Q	R	+	2	0	CHAT	50540752	0.999000	0.42202	0.438000	0.26821	0.310000	0.27922	2.933000	0.48948	0.322000	0.23283	0.655000	0.94253	CGG		0.587	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		41	63	0	0	0	1	0	41	63				
RYR1	6261	broad.mit.edu	37	19	39019295	39019295	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr19:39019295A>G	ENST00000359596.3	+	75	10994	c.10994A>G	c.(10993-10995)gAa>gGa	p.E3665G	RYR1_ENST00000360985.3_Missense_Mutation_p.E3665G|RYR1_ENST00000355481.4_Missense_Mutation_p.E3660G|AC067969.1_ENST00000597015.1_RNA			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3665					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ATCCTGACTGAAGACCACAGT	0.627																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(10978-10980)gAa>gGa		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						125.0	103.0	111.0					19																	39019295		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39019295A>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10994A>G	19.37:g.39019295A>G	ENSP00000352608:p.Glu3665Gly					RYR1_ENST00000360985.3_Missense_Mutation_p.E3665G|RYR1_ENST00000359596.3_Missense_Mutation_p.E3665G	p.E3660G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		74	11110	+	all_cancers(60;7.91e-06)		3665					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.10979A>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.461532	0.43736	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.98221	-4.78;-4.8;-4.78	5.43	4.42	0.53409	.	0.000000	0.64402	U	0.000002	D	0.98629	0.9541	M	0.86651	2.83	0.50171	D	0.999851	D;D;D	0.63880	0.993;0.986;0.976	D;P;P	0.63033	0.91;0.797;0.631	D	0.98686	1.0694	10	0.51188	T	0.08	.	9.8473	0.41034	0.918:0.0:0.082:0.0	.	3665;3660;3665	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	G	3665;3660;3665;585	ENSP00000352608:E3665G;ENSP00000347667:E3660G;ENSP00000354254:E3665G	ENSP00000347667:E3660G	E	+	2	0	RYR1	43711135	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	6.038000	0.70964	2.074000	0.62210	0.459000	0.35465	GAA		0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			25	41	0	0	0	1	0	25	41				
CCDC62	84660	broad.mit.edu	37	12	123286202	123286202	+	Silent	SNP	C	C	A			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr12:123286202C>A	ENST00000253079.6	+	9	1853	c.1509C>A	c.(1507-1509)gcC>gcA	p.A503A	CCDC62_ENST00000392441.4_Silent_p.A503A|CCDC62_ENST00000392440.2_Silent_p.A264A|CCDC62_ENST00000537566.1_Silent_p.A264A	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	503					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AAAATGAAGCCTGTCTGGGCG	0.478																																						ENST00000253079.6																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(1507-1509)gcC>gcA		coiled-coil domain containing 62							76.0	75.0	75.0					12																	123286202		2203	4300	6503	SO:0001819	synonymous_variant	84660					cytoplasm|nucleus		g.chr12:123286202C>A		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.1509C>A	12.37:g.123286202C>A						CCDC62_ENST00000537566.1_Silent_p.A264A|CCDC62_ENST00000392440.2_Silent_p.A264A|CCDC62_ENST00000392441.4_Silent_p.A503A	p.A503A	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	9	1853	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		503					A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Silent	SNP	ENST00000253079.6	37	c.1509C>A	CCDS9238.1																																																																																				0.478	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		3	50	1	0	1	1	1	3	50				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	46	0	0	0	1	0	4	46				
MARK4	57787	broad.mit.edu	37	19	45805762	45805762	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr19:45805762C>T	ENST00000262891.4	+	17	2384	c.2053C>T	c.(2053-2055)Cgc>Tgc	p.R685C	MARK4_ENST00000300843.4_3'UTR	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	685					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGCAGCCGCCCGCTGCCGCTG	0.731																																						ENST00000262891.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2053-2055)Cgc>Tgc		MAP/microtubule affinity-regulating kinase 4							6.0	9.0	8.0					19																	45805762		684	1583	2267	SO:0001583	missense	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45805762C>T	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.2053C>T	19.37:g.45805762C>T	ENSP00000262891:p.Arg685Cys					MARK4_ENST00000300843.4_3'UTR	p.R685C	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	17	2384	+		all_neural(266;0.224)|Ovarian(192;0.231)	685					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	c.2053C>T	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635867	0.29068	.	.	ENSG00000007047	ENST00000262891;ENST00000538583	T	0.46819	0.86	5.4	5.4	0.78164	Kinase-associated KA1 (2);	0.072542	0.56097	D	0.000028	T	0.33498	0.0865	N	0.22421	0.69	0.80722	D	1	D	0.56287	0.975	B	0.40534	0.332	T	0.27706	-1.0066	10	0.87932	D	0	.	11.7242	0.51700	0.1763:0.8237:0.0:0.0	.	685	Q96L34	MARK4_HUMAN	C	685;12	ENSP00000262891:R685C	ENSP00000262891:R685C	R	+	1	0	MARK4	50497602	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	2.126000	0.42026	2.539000	0.85634	0.563000	0.77884	CGC		0.731	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		15	28	0	0	0	1	0	15	28				
OXCT1	5019	broad.mit.edu	37	5	41807440	41807440	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr5:41807440C>A	ENST00000196371.5	-	8	993	c.833G>T	c.(832-834)aGa>aTa	p.R278I	OXCT1_ENST00000509987.1_Missense_Mutation_p.R92I	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	278					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TACCTCAATTCTTTTCTCATA	0.403																																						ENST00000196371.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28						c.(832-834)aGa>aTa		3-oxoacid CoA transferase 1	Succinic acid(DB00139)						137.0	130.0	132.0					5																	41807440		2203	4300	6503	SO:0001583	missense	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41807440C>A	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.833G>T	5.37:g.41807440C>A	ENSP00000196371:p.Arg278Ile					OXCT1_ENST00000509987.1_Missense_Mutation_p.R92I	p.R278I	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN			8	993	-			278					B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	c.833G>T	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983579	0.74474	.	.	ENSG00000083720	ENST00000196371;ENST00000509987	T;T	0.78481	-1.18;-1.18	6.07	6.07	0.98685	.	0.048843	0.85682	D	0.000000	D	0.89536	0.6743	H	0.95917	3.74	0.80722	D	1	D	0.69078	0.997	P	0.56612	0.802	D	0.91877	0.5512	10	0.87932	D	0	-26.4781	12.7183	0.57127	0.0:0.9243:0.0:0.0757	.	278	P55809	SCOT1_HUMAN	I	278;92	ENSP00000196371:R278I;ENSP00000425348:R92I	ENSP00000196371:R278I	R	-	2	0	OXCT1	41843197	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.421000	0.66447	2.885000	0.99019	0.655000	0.94253	AGA		0.403	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		13	61	1	0	3.27435e-08	1	3.50017e-08	13	61				
RFC3	5983	broad.mit.edu	37	13	34399991	34399991	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr13:34399991A>C	ENST00000380071.3	+	4	489	c.359A>C	c.(358-360)cAa>cCa	p.Q120P	RFC3_ENST00000434425.1_Missense_Mutation_p.Q120P	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	120					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		CAATCACAACAACTTGAAACA	0.358																																						ENST00000380071.3																			0				lung(2)|skin(1)	3						c.(358-360)cAa>cCa		replication factor C (activator 1) 3, 38kDa							136.0	125.0	129.0					13																	34399991		2203	4300	6503	SO:0001583	missense	5983				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr13:34399991A>C		CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"""ATPases / AAA-type"""	9971	protein-coding gene	gene with protein product	"""RFC, 38 kD subunit"", ""A1 38 kDa subunit"""	600405	"""replication factor C (activator 1) 3 (38kD)"""			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.359A>C	13.37:g.34399991A>C	ENSP00000369411:p.Gln120Pro					RFC3_ENST00000434425.1_Missense_Mutation_p.Q120P	p.Q120P	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)	4	489	+		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)	120					C9JU95|O15252|Q5W0E8	Missense_Mutation	SNP	ENST00000380071.3	37	c.359A>C	CCDS9352.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.471531	0.43942	.	.	ENSG00000133119	ENST00000380071;ENST00000434425	T;T	0.48522	0.83;0.81	5.15	5.15	0.70609	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.57140	0.2033	L	0.41492	1.28	0.80722	D	1	D;B;B	0.61697	0.99;0.008;0.008	D;B;B	0.67231	0.95;0.029;0.029	T	0.52830	-0.8523	10	0.29301	T	0.29	-18.7949	14.439	0.67303	1.0:0.0:0.0:0.0	.	120;120;120	B4DKE6;C9JU95;P40938	.;.;RFC3_HUMAN	P	120	ENSP00000369411:Q120P;ENSP00000401001:Q120P	ENSP00000369411:Q120P	Q	+	2	0	RFC3	33297991	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.001000	0.93568	2.074000	0.62210	0.460000	0.39030	CAA		0.358	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044450.2	NM_002915		12	34	0	0	0	1	0	12	34				
ZNF679	168417	broad.mit.edu	37	7	63721245	63721245	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr7:63721245G>A	ENST00000421025.1	+	4	469	c.200G>A	c.(199-201)tGt>tAt	p.C67Y	ZNF679_ENST00000255746.4_Missense_Mutation_p.C67Y	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	67	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TTGATCACCTGTCTGGAGCAA	0.363																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(199-201)tGt>tAt		zinc finger protein 679							115.0	100.0	105.0					7																	63721245		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63721245G>A	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.200G>A	7.37:g.63721245G>A	ENSP00000416809:p.Cys67Tyr					ZNF679_ENST00000255746.4_Missense_Mutation_p.C67Y	p.C67Y	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			4	469	+			67			KRAB.			Missense_Mutation	SNP	ENST00000421025.1	37	c.200G>A	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	G	0.410	-0.913643	0.02415	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.00760	5.73;5.73	0.235	0.235	0.15431	Krueppel-associated box (3);	.	.	.	.	T	0.00754	0.0025	L	0.35723	1.085	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43814	-0.9368	8	0.30078	T	0.28	.	.	.	.	.	67	Q8IYX0	ZN679_HUMAN	Y	67	ENSP00000416809:C67Y;ENSP00000255746:C67Y	ENSP00000255746:C67Y	C	+	2	0	ZNF679	63358680	0.014000	0.17966	0.097000	0.21041	0.100000	0.18952	-0.237000	0.08990	0.308000	0.22923	0.313000	0.20887	TGT		0.363	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		22	24	0	0	0	1	0	22	24				
BAZ1A	11177	broad.mit.edu	37	14	35222776	35222776	+	Missense_Mutation	SNP	C	C	T	rs544376472		TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr14:35222776C>T	ENST00000382422.2	-	26	4936	c.4609G>A	c.(4609-4611)Gtc>Atc	p.V1537I	BAZ1A_ENST00000360310.1_Missense_Mutation_p.V1537I|BAZ1A_ENST00000358716.4_Missense_Mutation_p.V1505I			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1537					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.V1537I(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CTGGGTGTGACGTGGAGTCCA	0.418													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17139	0.0		0.0	False		,,,				2504	0.0					ENST00000360310.1																			1	Substitution - Missense(1)	p.V1537I(1)	endometrium(1)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(4609-4611)Gtc>Atc		bromodomain adjacent to zinc finger domain, 1A							129.0	114.0	119.0					14																	35222776		2203	4300	6503	SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35222776C>T	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.4609G>A	14.37:g.35222776C>T	ENSP00000371859:p.Val1537Ile					BAZ1A_ENST00000358716.4_Missense_Mutation_p.V1505I|BAZ1A_ENST00000382422.2_Missense_Mutation_p.V1537I	p.V1537I	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	27	5176	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		1537					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.4609G>A	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	c	7.666	0.685871	0.14973	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310	T;T;T	0.71461	-0.57;-0.57;-0.57	5.26	3.43	0.39272	.	0.252963	0.32836	N	0.005586	T	0.53498	0.1800	N	0.17082	0.46	0.19775	N	0.99996	B;B	0.12630	0.006;0.003	B;B	0.06405	0.002;0.001	T	0.37220	-0.9715	10	0.35671	T	0.21	.	12.6081	0.56535	0.0:0.78:0.0:0.22	.	1505;1537	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	I	1505;1537;1537	ENSP00000351555:V1505I;ENSP00000371859:V1537I;ENSP00000353458:V1537I	ENSP00000351555:V1505I	V	-	1	0	BAZ1A	34292527	0.040000	0.19996	0.116000	0.21606	0.230000	0.25150	0.191000	0.17076	0.238000	0.21222	-1.128000	0.01989	GTC		0.418	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			23	38	0	0	0	1	0	23	38				
ZNF521	25925	broad.mit.edu	37	18	22804358	22804358	+	Missense_Mutation	SNP	G	G	A	rs190029761		TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr18:22804358G>A	ENST00000361524.3	-	4	3672	c.3524C>T	c.(3523-3525)aCg>aTg	p.T1175M	ZNF521_ENST00000584787.1_Missense_Mutation_p.T955M|ZNF521_ENST00000538137.2_Missense_Mutation_p.T1175M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1175					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.T1175M(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TACTTGGGGCGTTTTCAACTG	0.483			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)	p.T1175M(1)	large_intestine(1)	NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(3523-3525)aCg>aTg		zinc finger protein 521		G	MET/THR	0,4406		0,0,2203	154.0	146.0	149.0		3524	6.0	1.0	18		149	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF521	NM_015461.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1175/1312	22804358	1,13005	2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804358G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3524C>T	18.37:g.22804358G>A	ENSP00000354794:p.Thr1175Met					ZNF521_ENST00000538137.2_Missense_Mutation_p.T1175M|ZNF521_ENST00000584787.1_Missense_Mutation_p.T955M	p.T1175M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	3672	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1175					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.3524C>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.338239	0.24253	0.0	1.16E-4	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09255	3.0;3.03	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	N	0.14661	0.345	0.39008	D	0.959485	D	0.63880	0.993	P	0.50708	0.648	T	0.06445	-1.0826	10	0.49607	T	0.09	-22.7784	13.6254	0.62161	0.0702:0.0:0.9297:0.0	.	1175	Q96K83	ZN521_HUMAN	M	1175;1209;1175	ENSP00000354794:T1175M;ENSP00000382352:T1175M	ENSP00000354794:T1175M	T	-	2	0	ZNF521	21058356	1.000000	0.71417	0.975000	0.42487	0.932000	0.56968	7.605000	0.82844	2.835000	0.97688	0.650000	0.86243	ACG		0.483	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		33	54	0	0	0	1	0	33	54				
FNTB	2342	broad.mit.edu	37	14	65471020	65471020	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr14:65471020C>G	ENST00000246166.2	+	2	432	c.198C>G	c.(196-198)caC>caG	p.H66Q	CHURC1-FNTB_ENST00000549987.1_Missense_Mutation_p.H101Q|FNTB_ENST00000447296.2_Missense_Mutation_p.H100Q|FNTB_ENST00000542227.1_Missense_Mutation_p.H20Q|RP11-840I19.5_ENST00000606934.1_RNA|FNTB_ENST00000555742.1_3'UTR	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	66					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGTTCAACCACCTTGTACCAA	0.453																																						ENST00000246166.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(196-198)caC>caG		farnesyltransferase, CAAX box, beta							197.0	188.0	191.0					14																	65471020		2203	4300	6503	SO:0001583	missense	2342							g.chr14:65471020C>G		CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.198C>G	14.37:g.65471020C>G	ENSP00000246166:p.His66Gln					CHURC1-FNTB_ENST00000542227.1_Missense_Mutation_p.H20Q|FNTB_ENST00000555742.1_3'UTR|CHURC1-FNTB_ENST00000447296.2_Missense_Mutation_p.H100Q	p.H66Q	NM_002028.3	NP_002019.1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)	2	432	+								B2RDX6|B4E1A0	Missense_Mutation	SNP	ENST00000246166.2	37	c.198C>G	CCDS9769.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.72|12.72	2.021128|2.021128	0.35701|0.35701	.|.	.|.	ENSG00000125954;ENSG00000125954;ENSG00000125954;ENSG00000257365;ENSG00000257365|ENSG00000125954	ENST00000542227;ENST00000549987;ENST00000447296;ENST00000246166;ENST00000555372|ENST00000553743	T;T;T;T|.	0.41065|.	1.01;1.01;1.01;1.01|.	5.61|5.61	4.7|4.7	0.59300|0.59300	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);|.	0.044630|.	0.85682|.	D|.	0.000000|.	T|T	0.55784|0.55784	0.1942|0.1942	L|L	0.42686|0.42686	1.345|1.345	0.37389|0.37389	D|D	0.912383|0.912383	B;B;B|.	0.13594|.	0.002;0.008;0.001|.	B;B;B|.	0.04013|.	0.0;0.001;0.001|.	T|T	0.56353|0.56353	-0.7993|-0.7993	10|5	0.16896|.	T|.	0.51|.	-29.9888|-29.9888	9.316|9.316	0.37934|0.37934	0.0:0.8515:0.0:0.1485|0.0:0.8515:0.0:0.1485	.|.	20;100;66|.	B4E1A0;B4DL54;P49356|.	.;.;FNTB_HUMAN|.	Q|A	20;101;100;66;66|49	ENSP00000443140:H20Q;ENSP00000447121:H101Q;ENSP00000406393:H100Q;ENSP00000246166:H66Q|.	ENSP00000246166:H66Q|.	H|P	+|+	3|1	2|0	FNTB;AL139022.1|FNTB	64540773|64540773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	1.502000|1.502000	0.35704|0.35704	2.791000|2.791000	0.96007|0.96007	0.650000|0.650000	0.86243|0.86243	CAC|CCT		0.453	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1	NM_002028		40	86	0	0	0	1	0	40	86				
GRK7	131890	broad.mit.edu	37	3	141497196	141497196	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr3:141497196G>A	ENST00000264952.2	+	1	207	c.70G>A	c.(70-72)Gac>Aac	p.D24N		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	24					protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GAAGCCCTCGGACTGCGACAG	0.692																																						ENST00000264952.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(70-72)Gac>Aac		G protein-coupled receptor kinase 7							33.0	41.0	38.0					3																	141497196		2201	4297	6498	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141497196G>A		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.70G>A	3.37:g.141497196G>A	ENSP00000264952:p.Asp24Asn						p.D24N	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			1	207	+			24						Missense_Mutation	SNP	ENST00000264952.2	37	c.70G>A	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	G	9.724	1.160564	0.21454	.	.	ENSG00000114124	ENST00000264952	T	0.61627	0.09	4.5	4.5	0.54988	.	0.237775	0.42821	D	0.000660	T	0.50394	0.1613	L	0.52126	1.63	0.27374	N	0.955605	B	0.32245	0.361	B	0.26969	0.075	T	0.44345	-0.9334	10	0.25106	T	0.35	-4.7678	17.2258	0.86970	0.0:0.0:1.0:0.0	.	24	Q8WTQ7	GRK7_HUMAN	N	24	ENSP00000264952:D24N	ENSP00000264952:D24N	D	+	1	0	GRK7	142979886	1.000000	0.71417	0.057000	0.19452	0.132000	0.20833	6.984000	0.76186	2.033000	0.60031	0.655000	0.94253	GAC		0.692	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		20	37	0	0	0	1	0	20	37				
PTCHD3	374308	broad.mit.edu	37	10	27702556	27702556	+	Silent	SNP	G	G	A			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr10:27702556G>A	ENST00000438700.3	-	1	741	c.624C>T	c.(622-624)ttC>ttT	p.F208F		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	208					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.F208F(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GAAGCGAGACGAAATTGGCTT	0.632																																						ENST00000438700.3																			1	Substitution - coding silent(1)	p.F208F(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(622-624)ttC>ttT		patched domain containing 3							52.0	55.0	54.0					10																	27702556		2203	4300	6503	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702556G>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.624C>T	10.37:g.27702556G>A							p.F208F	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			1	741	-			208					I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.624C>T	CCDS31173.1																																																																																				0.632	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		16	36	0	0	0	1	0	16	36				
OXCT1	5019	broad.mit.edu	37	5	41807525	41807525	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr5:41807525C>T	ENST00000196371.5	-	8	908	c.748G>A	c.(748-750)Gat>Aat	p.D250N	OXCT1_ENST00000509987.1_Missense_Mutation_p.D64N	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	250					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	GCTCCAATATCCACAATTTCT	0.303																																						ENST00000196371.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28						c.(748-750)Gat>Aat		3-oxoacid CoA transferase 1	Succinic acid(DB00139)						83.0	84.0	84.0					5																	41807525		2203	4300	6503	SO:0001583	missense	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41807525C>T	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.748G>A	5.37:g.41807525C>T	ENSP00000196371:p.Asp250Asn					OXCT1_ENST00000509987.1_Missense_Mutation_p.D64N	p.D250N	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN			8	908	-			250					B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	c.748G>A	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638074	0.67130	.	.	ENSG00000083720	ENST00000196371;ENST00000509987	T;T	0.79940	-1.32;-1.32	5.98	5.98	0.97165	3-oxoacid CoA-transferase, subunit A (1);	0.365688	0.31199	N	0.008068	D	0.86527	0.5954	M	0.77103	2.36	0.52501	D	0.999958	B	0.32939	0.391	B	0.43575	0.424	D	0.85871	0.1416	10	0.72032	D	0.01	-10.5771	19.2235	0.93808	0.0:1.0:0.0:0.0	.	250	P55809	SCOT1_HUMAN	N	250;64	ENSP00000196371:D250N;ENSP00000425348:D64N	ENSP00000196371:D250N	D	-	1	0	OXCT1	41843282	1.000000	0.71417	0.970000	0.41538	0.651000	0.38670	7.105000	0.77031	2.838000	0.97847	0.591000	0.81541	GAT		0.303	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		27	83	0	0	0	1	0	27	83				
CALCR	799	broad.mit.edu	37	7	93108738	93108738	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr7:93108738G>A	ENST00000394441.1	-	3	448	c.133C>T	c.(133-135)Cga>Tga	p.R45*	CALCR_ENST00000421592.1_Nonsense_Mutation_p.R45*|CALCR_ENST00000426151.1_Nonsense_Mutation_p.R45*|CALCR_ENST00000360249.4_Nonsense_Mutation_p.R45*|CALCR_ENST00000359558.2_Nonsense_Mutation_p.R63*	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	63					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.R45*(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	ATCTTCTTTCGTCCTACGACG	0.398																																						ENST00000359558.2																			1	Substitution - Nonsense(1)	p.R45*(1)	ovary(1)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(187-189)Cga>Tga		calcitonin receptor	Salmon Calcitonin(DB00017)						242.0	224.0	230.0					7																	93108738		2203	4300	6503	SO:0001587	stop_gained	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93108738G>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.133C>T	7.37:g.93108738G>A	ENSP00000377959:p.Arg45*					CALCR_ENST00000360249.4_Nonsense_Mutation_p.R45*|CALCR_ENST00000394441.1_Nonsense_Mutation_p.R45*|CALCR_ENST00000426151.1_Nonsense_Mutation_p.R45*|CALCR_ENST00000421592.1_Nonsense_Mutation_p.R45*	p.R63*	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		5	486	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		45					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Nonsense_Mutation	SNP	ENST00000394441.1	37	c.187C>T	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	36	5.639469	0.96693	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	.	.	.	5.21	2.28	0.28536	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2636	0.54665	0.0:0.0:0.5273:0.4726	.	.	.	.	X	63;45;45;45;45;45	.	ENSP00000352561:R63X	R	-	1	2	CALCR	92946674	0.013000	0.17824	0.003000	0.11579	0.036000	0.12997	1.233000	0.32648	0.384000	0.24942	0.650000	0.86243	CGA		0.398	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		52	73	0	0	0	1	0	52	73				
TRAV26-2	28656	broad.mit.edu	37	14	22670501	22670501	+	RNA	SNP	G	G	T			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr14:22670501G>T	ENST00000390460.1	+	0	25									T cell receptor alpha variable 26-2																		AAGCATTACTGTACTCCTATC	0.448																																						ENST00000390460.1																			0																				100.0	106.0	104.0					14																	22670501		1976	4160	6136			0							g.chr14:22670501G>T	AE000660		14q11.2	2012-02-07			ENSG00000211812	ENSG00000211812		"""T cell receptors / TRA locus"""	12124	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TRAV262, TCRAV4S1, TCRAV26S2			OTTHUMG00000170663		14.37:g.22670501G>T														0	25	+									RNA	SNP	ENST00000390460.1	37																																																																																						0.448	TRAV26-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409911.1	NG_001332		6	41	1	0	0.0293803	1	0.0303597	6	41				
ZCCHC8	55596	broad.mit.edu	37	12	122958560	122958560	+	Silent	SNP	G	G	A			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr12:122958560G>A	ENST00000336229.4	-	14	1738	c.1608C>T	c.(1606-1608)agC>agT	p.S536S	ZCCHC8_ENST00000538116.1_Silent_p.S147S|ZCCHC8_ENST00000543897.1_Silent_p.S298S|ZCCHC8_ENST00000536306.1_Silent_p.S298S	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	536					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		CGCTGTTTACGCTCTCGGCCT	0.552																																						ENST00000543897.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(892-894)agC>agT		zinc finger, CCHC domain containing 8							155.0	163.0	160.0					12																	122958560		2167	4268	6435	SO:0001819	synonymous_variant	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122958560G>A	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1608C>T	12.37:g.122958560G>A						ZCCHC8_ENST00000538116.1_Silent_p.S147S|ZCCHC8_ENST00000536306.1_Silent_p.S298S|ZCCHC8_ENST00000336229.4_Silent_p.S536S	p.S298S			Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	12	3249	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		536					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Silent	SNP	ENST00000336229.4	37	c.894C>T																																																																																					0.552	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		62	100	0	0	0	1	0	62	100				
KIF2B	84643	broad.mit.edu	37	17	51900492	51900492	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr17:51900492C>T	ENST00000268919.4	+	1	254	c.98C>T	c.(97-99)gCg>gTg	p.A33V		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	33					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATCTACGTGGCGATCCAGCGC	0.552																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(97-99)gCg>gTg		kinesin family member 2B							127.0	105.0	112.0					17																	51900492		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900492C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.98C>T	17.37:g.51900492C>T	ENSP00000268919:p.Ala33Val						p.A33V	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	254	+			33					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.98C>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	5.396	0.258268	0.10239	.	.	ENSG00000141200	ENST00000268919	T	0.74002	-0.8	4.96	-0.795	0.10915	.	0.501568	0.16531	N	0.210347	T	0.50599	0.1625	L	0.39898	1.24	0.25215	N	0.98994	P	0.44044	0.825	B	0.34489	0.184	T	0.44877	-0.9299	10	0.25751	T	0.34	.	0.765	0.01013	0.2039:0.3953:0.1365:0.2643	.	33	Q8N4N8	KIF2B_HUMAN	V	33	ENSP00000268919:A33V	ENSP00000268919:A33V	A	+	2	0	KIF2B	49255491	0.988000	0.35896	0.021000	0.16686	0.016000	0.09150	2.721000	0.47260	0.091000	0.17302	-0.137000	0.14449	GCG		0.552	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		11	13	0	0	0	1	0	11	13				
ADCY7	113	broad.mit.edu	37	16	50341044	50341044	+	Silent	SNP	C	C	T			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr16:50341044C>T	ENST00000394697.2	+	15	2176	c.1836C>T	c.(1834-1836)gtC>gtT	p.V612V	ADCY7_ENST00000538642.1_Silent_p.V612V|ADCY7_ENST00000254235.3_Silent_p.V612V|ADCY7_ENST00000566433.2_Silent_p.V612V|ADCY7_ENST00000537579.1_3'UTR			P51828	ADCY7_HUMAN	adenylate cyclase 7	612					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)|cellular response to ethanol (GO:0071361)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		TCGTCCATGTCCTGCTCATGC	0.647																																						ENST00000394697.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35						c.(1834-1836)gtC>gtT		adenylate cyclase 7	Bromocriptine(DB01200)						52.0	45.0	48.0					16																	50341044		2198	4300	6498	SO:0001819	synonymous_variant	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50341044C>T	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1836C>T	16.37:g.50341044C>T						ADCY7_ENST00000566433.2_Silent_p.V612V|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000538642.1_Silent_p.V612V|ADCY7_ENST00000254235.3_Silent_p.V612V	p.V612V			P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	15	2176	+		all_cancers(37;0.0127)	612					A0AVA6	Silent	SNP	ENST00000394697.2	37	c.1836C>T	CCDS10741.1																																																																																				0.647	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			3	12	0	0	0	1	0	3	12				
SACS	26278	broad.mit.edu	37	13	23912044	23912044	+	Missense_Mutation	SNP	C	C	T	rs191995849	byFrequency	TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr13:23912044C>T	ENST00000382292.3	-	9	6244	c.5971G>A	c.(5971-5973)Gta>Ata	p.V1991I	SACS_ENST00000382298.3_Missense_Mutation_p.V1991I|SACS_ENST00000402364.1_Missense_Mutation_p.V1241I			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1991					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGAAATCTTACGTTCTTCATG	0.368													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18567	0.0		0.0	False		,,,				2504	0.0					ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(5971-5973)Gta>Ata		spastic ataxia of Charlevoix-Saguenay (sacsin)							49.0	50.0	50.0					13																	23912044		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23912044C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5971G>A	13.37:g.23912044C>T	ENSP00000371729:p.Val1991Ile					SACS_ENST00000402364.1_Missense_Mutation_p.V1241I|SACS_ENST00000382292.3_Missense_Mutation_p.V1991I	p.V1991I	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	6559	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1991					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.5971G>A	CCDS9300.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.28	3.797145	0.70567	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88586	-2.21;-2.4;-2.21	5.79	5.79	0.91817	.	0.064020	0.64402	D	0.000008	D	0.86087	0.5849	L	0.59436	1.845	0.50813	D	0.999895	P	0.48162	0.906	B	0.33690	0.168	D	0.86841	0.2017	10	0.44086	T	0.13	.	20.0368	0.97565	0.0:1.0:0.0:0.0	.	1991	Q9NZJ4	SACS_HUMAN	I	1991;1241;1991	ENSP00000371729:V1991I;ENSP00000385844:V1241I;ENSP00000371735:V1991I	ENSP00000371729:V1991I	V	-	1	0	SACS	22810044	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	5.763000	0.68818	2.727000	0.93392	0.591000	0.81541	GTA		0.368	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		24	53	0	0	0	1	0	24	53				
CUL3	8452	broad.mit.edu	37	2	225371708	225371708	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr2:225371708A>C	ENST00000264414.4	-	7	1234	c.896T>G	c.(895-897)aTg>aGg	p.M299R	CUL3_ENST00000409777.1_Missense_Mutation_p.M275R|CUL3_ENST00000344951.4_Missense_Mutation_p.M233R|CUL3_ENST00000409096.1_Missense_Mutation_p.M275R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	299					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.M299R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TAACTTGTACATGCAACCAAG	0.358																																						ENST00000264414.4																			1	Substitution - Missense(1)	p.M299R(1)	prostate(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.(895-897)aTg>aGg		cullin 3							81.0	71.0	74.0					2																	225371708		2203	4300	6503	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225371708A>C	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.896T>G	2.37:g.225371708A>C	ENSP00000264414:p.Met299Arg					CUL3_ENST00000344951.4_Missense_Mutation_p.M233R|CUL3_ENST00000409096.1_Missense_Mutation_p.M275R|CUL3_ENST00000409777.1_Missense_Mutation_p.M275R	p.M299R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	7	1234	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	299					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.896T>G	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.685114	0.88639	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	5.62	5.62	0.85841	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91978	0.7459	H	0.95645	3.7	0.80722	D	1	D;D;D	0.56968	0.973;0.978;0.978	P;P;P	0.61397	0.822;0.888;0.888	D	0.94256	0.7498	10	0.87932	D	0	.	15.8227	0.78673	1.0:0.0:0.0:0.0	.	233;277;299	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	R	299;233;275;275	ENSP00000264414:M299R;ENSP00000343601:M233R;ENSP00000387200:M275R;ENSP00000386525:M275R	ENSP00000264414:M299R	M	-	2	0	CUL3	225079952	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.932000	0.92897	2.155000	0.67459	0.482000	0.46254	ATG		0.358	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			14	23	0	0	0	1	0	14	23				
ZNF709	163051	broad.mit.edu	37	19	12575380	12575380	+	Silent	SNP	C	C	T			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr19:12575380C>T	ENST00000397732.3	-	4	1527	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACACTGTTTACATT	0.403																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1354-1356)caG>caA		zinc finger protein 709							102.0	108.0	106.0					19																	12575380		2203	4296	6499	SO:0001819	synonymous_variant	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575380C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1356G>A	19.37:g.12575380C>T						ZNF709_ENST00000428311.1_Silent_p.Q452Q|CTD-3105H18.18_ENST00000598753.1_Intron	p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1527	-			452					A8K4E6	Silent	SNP	ENST00000397732.3	37	c.1356G>A	CCDS42504.1																																																																																				0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		4	197	0	0	0	1	0	4	197				
ATP10A	57194	broad.mit.edu	37	15	25958882	25958882	+	Silent	SNP	G	G	A			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr15:25958882G>A	ENST00000356865.6	-	10	2394	c.2283C>T	c.(2281-2283)atC>atT	p.I761I		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	761					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGTAGACGTTGATCTCATCGG	0.622																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2281-2283)atC>atT		ATPase, class V, type 10A							68.0	64.0	65.0					15																	25958882		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25958882G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2283C>T	15.37:g.25958882G>A							p.I761I	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	2394	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	761					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.2283C>T	CCDS32178.1																																																																																				0.622	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		11	24	0	0	0	1	0	11	24				
ALG1L2	644974	broad.mit.edu	37	3	129817105	129817105	+	RNA	SNP	A	A	G			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr3:129817105A>G	ENST00000507643.1	+	0	687				AC083906.2_ENST00000578837.1_RNA			C9J202	AG1L2_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2								transferase activity, transferring glycosyl groups (GO:0016757)										CTGATCCTGAAGGCAAGCTAA	0.527																																						ENST00000507643.1																			0																																																			0				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129817105A>G	BC127756		3q22.1	2013-02-22	2013-02-22		ENSG00000251287	ENSG00000251287		"""Glycosyltransferase group 1 domain containing"""	37258	other	unknown			"""asparagine-linked glycosylation 1-like 2"""				Standard	NM_001136152		Approved		uc011bld.2	C9J202	OTTHUMG00000159782		3.37:g.129817105A>G										C9J202	AG1L2_HUMAN			0	687	+									RNA	SNP	ENST00000507643.1	37																																																																																						0.527	ALG1L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357289.1	NM_001136152		5	37	0	0	0	1	0	5	37				
NCSTN	23385	broad.mit.edu	37	1	160314581	160314581	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr1:160314581G>A	ENST00000294785.5	+	2	280	c.155G>A	c.(154-156)cGc>cAc	p.R52H	COPA_ENST00000241704.7_5'Flank|NCSTN_ENST00000535857.1_Missense_Mutation_p.R52H|NCSTN_ENST00000392212.4_Missense_Mutation_p.R32H|NCSTN_ENST00000368063.1_Missense_Mutation_p.R32H|COPA_ENST00000368069.3_5'Flank	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	52					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCTGTGTTCGCCTGCTCAAC	0.423																																						ENST00000368063.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34						c.(94-96)cGc>cAc		nicastrin							93.0	80.0	84.0					1																	160314581		2203	4300	6503	SO:0001583	missense	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160314581G>A	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.155G>A	1.37:g.160314581G>A	ENSP00000294785:p.Arg52His					NCSTN_ENST00000392212.4_Missense_Mutation_p.R32H|NCSTN_ENST00000294785.5_Missense_Mutation_p.R52H|NCSTN_ENST00000535857.1_Missense_Mutation_p.R52H	p.R32H			Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	375	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		52					Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.95G>A	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901365	0.92035	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000437169;ENST00000421914;ENST00000535857;ENST00000438008;ENST00000392212	D;D;T;T;D;T;D	0.88664	-2.41;-2.31;-0.98;-1.33;-1.52;-1.06;-2.31	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.94321	0.8175	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.996	D	0.94999	0.8141	10	0.72032	D	0.01	-9.4485	14.2472	0.65995	0.0:0.0:1.0:0.0	.	52;32;52	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	H	52;32;52;52;52;85;32	ENSP00000294785:R52H;ENSP00000357042:R32H;ENSP00000415442:R52H;ENSP00000390409:R52H;ENSP00000442605:R52H;ENSP00000389370:R85H;ENSP00000376047:R32H	ENSP00000294785:R52H	R	+	2	0	NCSTN	158581205	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	8.442000	0.90317	2.366000	0.80165	0.557000	0.71058	CGC		0.423	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		34	17	0	0	0	1	0	34	17				
RELN	5649	broad.mit.edu	37	7	103234815	103234815	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr7:103234815C>T	ENST00000428762.1	-	26	3823	c.3664G>A	c.(3664-3666)Gag>Aag	p.E1222K	RELN_ENST00000424685.2_Missense_Mutation_p.E1222K|RELN_ENST00000343529.5_Missense_Mutation_p.E1222K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1222					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCTGCTTCTCGGACAGAATG	0.488																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(3664-3666)Gag>Aag		reelin							282.0	272.0	276.0					7																	103234815		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103234815C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3664G>A	7.37:g.103234815C>T	ENSP00000392423:p.Glu1222Lys					RELN_ENST00000343529.5_Missense_Mutation_p.E1222K|RELN_ENST00000424685.2_Missense_Mutation_p.E1222K	p.E1222K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	26	3823	-			1222					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.3664G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661947	0.88251	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24151	1.87;1.87;1.87	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.46386	0.1390	L	0.51422	1.61	0.58432	D	0.999999	D;D	0.76494	0.999;0.997	D;D	0.68039	0.953;0.955	T	0.26224	-1.0109	10	0.46703	T	0.11	.	19.2511	0.93926	0.0:1.0:0.0:0.0	.	1222;1222	P78509-2;P78509	.;RELN_HUMAN	K	1222	ENSP00000392423:E1222K;ENSP00000345694:E1222K;ENSP00000388446:E1222K	ENSP00000345694:E1222K	E	-	1	0	RELN	103022051	1.000000	0.71417	0.949000	0.38748	0.816000	0.46133	5.502000	0.66956	2.534000	0.85438	0.591000	0.81541	GAG		0.488	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		104	137	0	0	0	1	0	104	137				
DNM2	1785	broad.mit.edu	37	19	10897283	10897283	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr19:10897283G>A	ENST00000355667.6	+	7	973	c.893G>A	c.(892-894)aGc>aAc	p.S298N	DNM2_ENST00000408974.4_Missense_Mutation_p.S298N|DNM2_ENST00000389253.4_Missense_Mutation_p.S298N|DNM2_ENST00000359692.6_Missense_Mutation_p.S298N|DNM2_ENST00000585892.1_Missense_Mutation_p.S298N|DNM2_ENST00000314646.5_Missense_Mutation_p.S298N	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	298					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GCCCTACGTAGCAAACTACAG	0.597			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(892-894)aGc>aAc		dynamin 2							113.0	99.0	104.0					19																	10897283		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10897283G>A		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.893G>A	19.37:g.10897283G>A	ENSP00000347890:p.Ser298Asn					DNM2_ENST00000359692.6_Missense_Mutation_p.S298N|DNM2_ENST00000389253.4_Missense_Mutation_p.S298N|DNM2_ENST00000408974.4_Missense_Mutation_p.S298N|DNM2_ENST00000585892.1_Missense_Mutation_p.S298N|DNM2_ENST00000355667.6_Missense_Mutation_p.S298N	p.S298N			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		7	1057	+			298					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.893G>A	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	6.172	0.399929	0.11696	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71	5.03	5.03	0.67393	Dynamin central domain (1);	0.040918	0.85682	D	0.000000	T	0.51787	0.1695	N	0.17764	0.52	0.49687	D	0.999813	B;B;B;B;B	0.16802	0.006;0.002;0.004;0.002;0.019	B;B;B;B;B	0.19148	0.006;0.006;0.024;0.009;0.023	T	0.46541	-0.9184	10	0.11794	T	0.64	-1.0442	10.7539	0.46225	0.0886:0.0:0.9114:0.0	.	31;298;298;298;298	B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;DYN2_HUMAN;.	N	287;298;298;298;298;298	ENSP00000386192:S298N;ENSP00000347890:S298N;ENSP00000352721:S298N;ENSP00000373905:S298N;ENSP00000313164:S298N	ENSP00000313164:S298N	S	+	2	0	DNM2	10758283	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	3.786000	0.55431	2.325000	0.78763	0.655000	0.94253	AGC		0.597	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		12	17	0	0	0	1	0	12	17				
PROM1	8842	broad.mit.edu	37	4	16026833	16026833	+	Silent	SNP	G	G	A			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr4:16026833G>A	ENST00000510224.1	-	6	860	c.612C>T	c.(610-612)ctC>ctT	p.L204L	PROM1_ENST00000540805.1_Silent_p.L204L|PROM1_ENST00000508167.1_Silent_p.L195L|PROM1_ENST00000447510.2_Silent_p.L204L|PROM1_ENST00000505450.1_Silent_p.L195L|PROM1_ENST00000539194.1_Silent_p.L204L|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000543373.1_Silent_p.L195L			O43490	PROM1_HUMAN	prominin 1	204					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TTTCATTCAAGAGAGTTCGCA	0.403																																						ENST00000505450.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						c.(583-585)ctC>ctT		prominin 1							172.0	163.0	166.0					4																	16026833		1872	4090	5962	SO:0001819	synonymous_variant	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:16026833G>A	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.612C>T	4.37:g.16026833G>A						PROM1_ENST00000508167.1_Silent_p.L195L|PROM1_ENST00000539194.1_Silent_p.L204L|PROM1_ENST00000543373.1_Silent_p.L195L|PROM1_ENST00000540805.1_Silent_p.L204L|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000510224.1_Silent_p.L204L|PROM1_ENST00000447510.2_Silent_p.L204L	p.L195L	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN			5	1197	-			204					Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Silent	SNP	ENST00000510224.1	37	c.585C>T	CCDS47029.1																																																																																				0.403	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		45	89	0	0	0	1	0	45	89				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			0							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		4	119	0	0	0	1	0	4	119				
SDHAP1	255812	broad.mit.edu	37	3	195690149	195690149	+	RNA	SNP	A	A	G			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr3:195690149A>G	ENST00000427841.1	-	0	2325					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TGACACATGCATGAGCTATTA	0.498																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195690149A>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195690149A>G								NR_003264.2						0	2325	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.498	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	7	0	0	0	1	0	3	7				
ZNF507	22847	broad.mit.edu	37	19	32851518	32851518	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr19:32851518C>T	ENST00000311921.4	+	4	2546	c.2354C>T	c.(2353-2355)cCg>cTg	p.P785L	ZNF507_ENST00000355898.5_Missense_Mutation_p.P785L|ZNF507_ENST00000544431.1_Missense_Mutation_p.P785L	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	785					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TCTGATAAGCCGTACAGGTAA	0.289																																						ENST00000311921.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(2353-2355)cCg>cTg		zinc finger protein 507							117.0	111.0	113.0					19																	32851518		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32851518C>T	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.2354C>T	19.37:g.32851518C>T	ENSP00000312277:p.Pro785Leu					ZNF507_ENST00000544431.1_Missense_Mutation_p.P785L|ZNF507_ENST00000355898.5_Missense_Mutation_p.P785L	p.P785L	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN			4	2546	+	Esophageal squamous(110;0.162)		785					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.2354C>T	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977761	0.92982	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.33654	1.66;1.66;1.4	5.71	5.71	0.89125	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70761	-0.4784	10	0.66056	D	0.02	.	19.8773	0.96884	0.0:1.0:0.0:0.0	.	785	Q8TCN5	ZN507_HUMAN	L	785	ENSP00000348162:P785L;ENSP00000312277:P785L;ENSP00000441549:P785L	ENSP00000312277:P785L	P	+	2	0	ZNF507	37543358	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	7.383000	0.79741	2.686000	0.91538	0.650000	0.86243	CCG		0.289	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		13	25	0	0	0	1	0	13	25				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000413702.1_Missense_Mutation_p.S173P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						ENST00000413702.1																			3	Substitution - Missense(3)	p.S173P(3)	lung(2)|kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(517-519)Tct>Cct		mucin 7, secreted							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro					MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		4	89	0	0	0	1	0	4	89				
MRVI1	10335	broad.mit.edu	37	11	10624677	10624677	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr11:10624677G>A	ENST00000436272.1	-	13	1862	c.1784C>T	c.(1783-1785)gCc>gTc	p.A595V	MRVI1_ENST00000547195.1_Missense_Mutation_p.A531V|MRVI1_ENST00000421747.1_Missense_Mutation_p.A613V|MRVI1_ENST00000527509.2_Missense_Mutation_p.A531V|MRVI1_ENST00000531107.1_Missense_Mutation_p.A614V|MRVI1_ENST00000423302.2_Missense_Mutation_p.A622V|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000545852.1_Missense_Mutation_p.A307V|MRVI1_ENST00000552103.1_Missense_Mutation_p.A531V|MRVI1_ENST00000534266.2_Missense_Mutation_p.A307V|MRVI1_ENST00000424001.1_Missense_Mutation_p.A307V|MRVI1_ENST00000541483.1_Missense_Mutation_p.A416V|MRVI1_ENST00000558540.1_Missense_Mutation_p.A307V			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	595					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTGGCGGACGGCGCCTACCAC	0.612																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(1591-1593)gCc>gTc		murine retrovirus integration site 1 homolog							17.0	21.0	20.0					11																	10624677		1981	4140	6121	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10624677G>A	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1784C>T	11.37:g.10624677G>A	ENSP00000412229:p.Ala595Val					MRVI1_ENST00000558540.1_Missense_Mutation_p.A307V|MRVI1_ENST00000552103.1_Missense_Mutation_p.A531V|MRVI1_ENST00000423302.2_Missense_Mutation_p.A622V|MRVI1_ENST00000421747.1_Missense_Mutation_p.A613V|MRVI1_ENST00000424001.1_Missense_Mutation_p.A307V|MRVI1_ENST00000534266.2_Missense_Mutation_p.A307V|MRVI1_ENST00000545852.1_Missense_Mutation_p.A307V|MRVI1_ENST00000541483.1_Missense_Mutation_p.A416V|MRVI1_ENST00000436272.1_Missense_Mutation_p.A595V|MRVI1_ENST00000531107.1_Missense_Mutation_p.A614V|MRVI1_ENST00000527509.2_Missense_Mutation_p.A531V|LYVE1_ENST00000531706.1_Intron	p.A531V	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	13	2092	-			595			Interaction with ITPR1 (By similarity).		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.1592C>T		.	.	.	.	.	.	.	.	.	.	G	31	5.086705	0.94100	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.39	5.39	0.77823	.	0.116694	0.56097	D	0.000022	T	0.55513	0.1925	M	0.79123	2.44	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	D;D;D;D	0.83275	0.957;0.996;0.996;0.994	T	0.58929	-0.7549	10	0.87932	D	0	-13.2321	19.509	0.95133	0.0:0.0:1.0:0.0	.	416;595;614;613	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	V	613;596;595;531;531;307;307;622;416;614;531	ENSP00000414598:A613V;ENSP00000412229:A595V;ENSP00000448278:A531V;ENSP00000446764:A531V;ENSP00000441971:A307V;ENSP00000401205:A307V;ENSP00000412130:A622V;ENSP00000437784:A416V;ENSP00000432436:A614V;ENSP00000432067:A531V	ENSP00000307885:A596V	A	-	2	0	MRVI1	10581253	1.000000	0.71417	0.929000	0.37066	0.728000	0.41692	9.202000	0.95026	2.682000	0.91365	0.655000	0.94253	GCC		0.612	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		7	3	0	0	0	1	0	7	3				
PCDHB4	56131	broad.mit.edu	37	5	140502486	140502487	+	Frame_Shift_Ins	INS	-	-	A	rs372292910		TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr5:140502486_140502487insA	ENST00000194152.1	+	1	906_907	c.906_907insA	c.(907-909)aaafs	p.K303fs	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	303	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K305fs*12(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACTGTTGAAAAAAAAATT	0.366																																						ENST00000194152.1																			1	Deletion - Frameshift(1)	p.K305fs*12(1)	lung(1)	autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(904-909)ttaaaafs						6,4244		0,6,2119						3.5	0.7			99	16,8224		0,16,4104	no	frameshift	PCDHB4	NM_018938.2		0,22,6223	A1A1,A1R,RR		0.1942,0.1412,0.1761				22,12468				SO:0001589	frameshift_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502486_140502487insA	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.915dupA	5.37:g.140502495_140502495dupA	ENSP00000194152:p.Lys303fs						p.LK302fs	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	906_907	+			302			Cadherin 3.		Q4V761	Frame_Shift_Ins	INS	ENST00000194152.1	37	c.906_907insA	CCDS4246.1																																																																																				0.366	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		7	125						7	125	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23299146	23299147	+	RNA	INS	-	-	A	rs572079359	byFrequency	TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr15:23299146_23299147insA	ENST00000560464.1	-	0	4510									hect domain and RLD 2 pseudogene 2																		TACATTCAAAGAAAAAAAAAAA	0.317																																						ENST00000560464.1																			0																																																			0							g.chr15:23299146_23299147insA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23299157_23299157dupA														0	4510	-									RNA	INS	ENST00000560464.1	37																																																																																						0.317	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			3	5						3	5	---	---	---	---
SUZ12P1	440423	broad.mit.edu	37	17	29061756	29061759	+	RNA	DEL	ACTA	ACTA	-	rs369042239		TCGA-XK-AAJP-01A-11D-A41K-08	TCGA-XK-AAJP-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64628bbc-a289-40e4-8bbc-ed53b7676771	50308439-7f7d-4b92-8264-c59f4afcedb9	g.chr17:29061756_29061759delACTA	ENST00000582557.1	+	0	676_679																											TACTGTGCATACTAACTTTCTTGA	0.304																																						ENST00000582557.1																			0																																																			0							g.chr17:29061756_29061759delACTA																													17.37:g.29061756_29061759delACTA														0	676_679	+									RNA	DEL	ENST00000582557.1	37																																																																																						0.304	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			2	4						2	4	---	---	---	---
