#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
MST1L	11223	broad.mit.edu	37	1	17087593	17087593	+	RNA	SNP	C	C	T	rs12145944	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:17087593C>T	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										ATGGCGAGCGCTGCCCTGCAG	0.577																																						uc010ock.1																			0					0						c.(70-72)CAG>CAA		SubName: Full=Hepatocyte growth factor-like protein homolog;																																						11223							g.chr1:17087593C>T	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17087593C>T						CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_5'Flank	p.Q24Q	NR_002729						2	72	-								B7WPB1|Q13209	Silent	SNP	ENST00000455405.2	37	c.72G>A																																																																																					0.577	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733	
GRHL3	57822	broad.mit.edu	37	1	24669384	24669384	+	Missense_Mutation	SNP	G	G	A	rs199801227		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:24669384G>A	ENST00000350501.5	+	11	1415	c.1288G>A	c.(1288-1290)Gtc>Atc	p.V430I	GRHL3_ENST00000361548.4_Missense_Mutation_p.V430I|GRHL3_ENST00000342072.4_Missense_Mutation_p.V337I|GRHL3_ENST00000356046.2_Missense_Mutation_p.V384I|GRHL3_ENST00000236255.4_Missense_Mutation_p.V435I	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	430					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCCATCAGGCGTCAAGGGCTG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17660	0.001		0.0	False		,,,				2504	0.0					uc001biy.2																			0				ovary(1)	1						c.(1303-1305)GTC>ATC		sister-of-mammalian grainyhead protein isoform							97.0	102.0	101.0					1																	24669384		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24669384G>A	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1288G>A	1.37:g.24669384G>A	ENSP00000288955:p.Val430Ile					GRHL3_uc001bix.2_Missense_Mutation_p.V430I|GRHL3_uc001biz.2_Missense_Mutation_p.V337I	p.V435I	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	11	1349	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	430					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.1303G>A	CCDS252.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	4.825	0.153433	0.09185	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.11495	2.94;2.77;2.92;2.93;2.93	5.22	0.0313	0.14170	.	0.620437	0.16759	N	0.200703	T	0.05273	0.0140	N	0.16368	0.405	0.20196	N	0.999928	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.41052	-0.9530	10	0.22109	T	0.4	-17.9822	6.1749	0.20439	0.4934:0.3323:0.1743:0.0	.	384;435;430	A2A297;Q8TE85-2;G3XAF0	.;.;.	I	430;337;430;384;435	ENSP00000354943:V430I;ENSP00000340543:V337I;ENSP00000288955:V430I;ENSP00000348333:V384I;ENSP00000236255:V435I	ENSP00000236255:V435I	V	+	1	0	GRHL3	24541971	0.005000	0.15991	0.936000	0.37596	0.588000	0.36517	-0.086000	0.11233	0.103000	0.17682	-0.302000	0.09304	GTC		0.632	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180	
YTHDF2	51441	broad.mit.edu	37	1	29069013	29069013	+	Silent	SNP	G	G	A	rs11553689		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:29069013G>A	ENST00000373812.3	+	4	593	c.231G>A	c.(229-231)acG>acA	p.T77T	YTHDF2_ENST00000542507.1_Silent_p.T77T|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Silent_p.T27T	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	77	Localization to mRNA processing bodies (P-bodies).				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGGTCTACGGGGGGTGACA	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		16970	0.001		0.0	False		,,,				2504	0.0					uc001brc.2																			0				ovary(1)|skin(1)	2						c.(229-231)ACG>ACA		high glucose-regulated protein 8							160.0	156.0	157.0					1																	29069013		1935	4136	6071	SO:0001819	synonymous_variant	51441				humoral immune response			g.chr1:29069013G>A	AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.231G>A	1.37:g.29069013G>A						YTHDF2_uc001brd.2_Silent_p.T74T|YTHDF2_uc010ofx.1_Silent_p.T27T|YTHDF2_uc001bre.2_Silent_p.T27T	p.T77T	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	4	728	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	77					A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Silent	SNP	ENST00000373812.3	37	c.231G>A	CCDS41296.1																																																																																				0.502	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1	NM_016258	
BRDT	676	broad.mit.edu	37	1	92445139	92445139	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:92445139C>T	ENST00000362005.3	+	9	1530	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	BRDT_ENST00000394530.3_Missense_Mutation_p.T325M|BRDT_ENST00000399546.2_Missense_Mutation_p.T371M|BRDT_ENST00000370389.2_Missense_Mutation_p.T298M|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000402388.1_Missense_Mutation_p.T371M	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	371					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GTTTTCGAAACGCATTTTTCA	0.318																																						uc001dok.3																			0				stomach(2)|ovary(1)|lung(1)	4						c.(1111-1113)ACG>ATG		testis-specific bromodomain protein							79.0	80.0	80.0					1																	92445139		2203	4300	6503	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92445139C>T	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1112C>T	1.37:g.92445139C>T	ENSP00000354568:p.Thr371Met					BRDT_uc001dol.3_Missense_Mutation_p.T371M|BRDT_uc010osz.1_Missense_Mutation_p.T375M|BRDT_uc009wdf.2_Missense_Mutation_p.T298M|BRDT_uc010ota.1_Missense_Mutation_p.T325M|BRDT_uc010otb.1_Missense_Mutation_p.T325M|BRDT_uc001dom.3_Missense_Mutation_p.T371M	p.T371M	NM_207189	NP_997072	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	8	1461	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	371					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.1112C>T	CCDS735.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.674630	0.00758	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18	5.65	3.33	0.38152	Bromodomain (3);	0.445078	0.23640	N	0.046022	T	0.00906	0.0030	N	0.00347	-1.61	0.27823	N	0.941727	B;B;B;B	0.16166	0.008;0.008;0.016;0.008	B;B;B;B	0.11329	0.0;0.0;0.006;0.0	T	0.46020	-0.9221	10	0.02654	T	1	-3.6003	5.0385	0.14447	0.1343:0.1515:0.0:0.7143	.	325;325;375;371	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	M	371;298;371;371;325;371;371	ENSP00000354568:T371M;ENSP00000359416:T298M;ENSP00000387822:T371M;ENSP00000378038:T325M;ENSP00000404969:T371M;ENSP00000384051:T371M	ENSP00000354568:T371M	T	+	2	0	BRDT	92217727	1.000000	0.71417	0.999000	0.59377	0.162000	0.22319	1.178000	0.31981	0.416000	0.25844	-0.302000	0.09304	ACG		0.318	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189	
APH1A	51107	broad.mit.edu	37	1	150241179	150241179	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:150241179A>G	ENST00000369109.3	-	1	220	c.32T>C	c.(31-33)tTc>tCc	p.F11S	APH1A_ENST00000360244.4_Missense_Mutation_p.F11S|C1orf54_ENST00000369102.1_5'UTR|APH1A_ENST00000414276.2_Missense_Mutation_p.F11S|APH1A_ENST00000461320.1_5'UTR	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	11					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|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)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAACGCGACGAAAGTGCAGCC	0.662																																						uc001ety.1																			0				ovary(1)|lung(1)	2						c.(31-33)TTC>TCC		anterior pharynx defective 1 homolog A isoform							23.0	30.0	28.0					1																	150241179		1893	4096	5989	SO:0001583	missense	51107				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 membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding	g.chr1:150241179A>G	AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.32T>C	1.37:g.150241179A>G	ENSP00000358105:p.Phe11Ser					APH1A_uc010pbx.1_Missense_Mutation_p.F11S|APH1A_uc001etz.1_Missense_Mutation_p.F11S|APH1A_uc001eua.1_Missense_Mutation_p.F11S|APH1A_uc010pby.1_Missense_Mutation_p.F11S|APH1A_uc001eub.1_5'UTR|APH1A_uc010pbz.1_5'UTR	p.F11S	NM_001077628	NP_001071096	Q96BI3	APH1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	354	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		11			Helical; Name=1; (Potential).		B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	ENST00000369109.3	37	c.32T>C	CCDS41390.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027918	0.75390	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000414276;ENST00000236017	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.67496	0.2899	M	0.90082	3.085	0.80722	D	1	D;D;D;D;D	0.69078	0.961;0.997;0.969;0.975;0.986	P;D;P;P;P	0.79108	0.673;0.992;0.527;0.658;0.677	T	0.75665	-0.3239	10	0.87932	D	0	-11.9599	12.9606	0.58455	1.0:0.0:0.0:0.0	.	11;11;11;11;11	B4DUG7;B4DQK0;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;.;APH1A_HUMAN	S	11	ENSP00000358105:F11S;ENSP00000353380:F11S;ENSP00000397473:F11S;ENSP00000236017:F11S	ENSP00000236017:F11S	F	-	2	0	APH1A	148507803	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.532000	0.60608	2.155000	0.67459	0.459000	0.35465	TTC		0.662	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	NM_016022	
OR6N2	81442	broad.mit.edu	37	1	158746549	158746549	+	Missense_Mutation	SNP	G	G	A	rs144962739		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:158746549G>A	ENST00000339258.1	-	1	876	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TCCTTGTTACGAAGACTGTAG	0.418																																						uc010pir.1																			0					0						c.(877-879)CGT>TGT		olfactory receptor, family 6, subfamily N,		G	CYS/ARG	0,4406		0,0,2203	170.0	160.0	163.0		877	4.6	1.0	1	dbSNP_134	163	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR6N2	NM_001005278.1	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	293/318	158746549	1,13005	2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158746549G>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.877C>T	1.37:g.158746549G>A	ENSP00000344101:p.Arg293Cys						p.R293C	NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN			1	877	-	all_hematologic(112;0.0378)		293			Cytoplasmic (Potential).		Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.877C>T	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082889	0.55861	0.0	1.16E-4	ENSG00000188340	ENST00000339258	T	0.40476	1.03	4.64	4.64	0.57946	.	0.000000	0.34156	N	0.004219	T	0.51550	0.1681	M	0.72479	2.2	0.43007	D	0.994533	D	0.89917	1.0	D	0.70227	0.968	T	0.57046	-0.7878	10	0.87932	D	0	-10.9219	10.1599	0.42844	0.0:0.0:0.6865:0.3135	.	293	Q8NGY6	OR6N2_HUMAN	C	293	ENSP00000344101:R293C	ENSP00000344101:R293C	R	-	1	0	OR6N2	157013173	0.876000	0.30132	1.000000	0.80357	0.987000	0.75469	2.117000	0.41939	2.381000	0.81170	0.650000	0.86243	CGT		0.418	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1		
C1ORF220	400798	broad.mit.edu	37	1	178514898	178514898	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:178514898G>A	ENST00000367636.4	+	2	622	c.284G>A	c.(283-285)cGt>cAt	p.R95H	C1orf220_ENST00000521244.1_3'UTR|C1orf220_ENST00000319387.2_3'UTR																							CAGTTTGTTCGTCAAAGGGCC	0.483																																						uc001glx.1																			0					0						c.(283-285)CGT>CAT		hypothetical protein LOC400798							94.0	84.0	87.0					1																	178514898		2203	4300	6503	SO:0001583	missense	400798							g.chr1:178514898G>A																												ENST00000367636.4:c.284G>A	1.37:g.178514898G>A	ENSP00000356608:p.Arg95His					C1orf49_uc001glv.1_Intron	p.R95H	NM_207467	NP_997350					2	641	+									Missense_Mutation	SNP	ENST00000367636.4	37	c.284G>A		.	.	.	.	.	.	.	.	.	.	G	4.939	0.174534	0.09391	.	.	ENSG00000184909	ENST00000367636	T	0.25250	1.81	2.32	-1.63	0.08345	.	.	.	.	.	T	0.11196	0.0273	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32214	-0.9915	7	.	.	.	.	2.149	0.03795	0.4468:0.0:0.3119:0.2413	.	95	Q5T0J3	CA220_HUMAN	H	95	ENSP00000356608:R95H	.	R	+	2	0	AL513013.1	176781521	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.015000	0.12634	-0.412000	0.07519	-0.605000	0.04089	CGT		0.483	C1ORF220-201	NOVEL	basic|appris_principal	protein_coding	protein_coding			
GPR25	2848	broad.mit.edu	37	1	200842843	200842843	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:200842843G>A	ENST00000304244.2	+	1	761	c.678G>A	c.(676-678)tcG>tcA	p.S226S		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	226					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GCCGCATCTCGCGCCGCCTGC	0.682																																						uc001gvn.1																			0				ovary(1)	1						c.(676-678)TCG>TCA		G protein-coupled receptor 25							23.0	27.0	25.0					1																	200842843		2179	4277	6456	SO:0001819	synonymous_variant	2848					integral to plasma membrane		g.chr1:200842843G>A	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.678G>A	1.37:g.200842843G>A							p.S226S	NM_005298	NP_005289	O00155	GPR25_HUMAN			1	678	+			226			Cytoplasmic (Potential).		A0AVJ5	Silent	SNP	ENST00000304244.2	37	c.678G>A	CCDS1405.1																																																																																				0.682	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298	
DUSP10	11221	broad.mit.edu	37	1	221879666	221879666	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:221879666C>G	ENST00000366899.3	-	3	1192	c.954G>C	c.(952-954)gaG>gaC	p.E318D	DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000323825.3_5'UTR|DUSP10_ENST00000544095.1_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	318					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GCTCAGCGTTCTCGATGTCAG	0.632																																						uc001hmy.1																			0				upper_aerodigestive_tract(1)|lung(1)	2						c.(952-954)GAG>GAC		dual specificity phosphatase 10 isoform a							115.0	118.0	117.0					1																	221879666		2203	4300	6503	SO:0001583	missense	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221879666C>G	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.954G>C	1.37:g.221879666C>G	ENSP00000355866:p.Glu318Asp					DUSP10_uc001hmx.1_5'UTR|DUSP10_uc001hmz.1_5'UTR	p.E318D	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	3	1136	-			318					D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	ENST00000366899.3	37	c.954G>C	CCDS1528.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003229	0.35320	.	.	ENSG00000143507	ENST00000366899;ENST00000418487	T	0.58358	0.34	5.34	5.34	0.76211	.	0.110601	0.64402	D	0.000008	T	0.40670	0.1126	L	0.27053	0.805	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.30297	-0.9983	10	0.09338	T	0.73	.	19.3865	0.94557	0.0:1.0:0.0:0.0	.	318	Q9Y6W6	DUS10_HUMAN	D	318;263	ENSP00000355866:E318D	ENSP00000355866:E318D	E	-	3	2	DUSP10	219946289	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.049000	0.57397	2.644000	0.89710	0.591000	0.81541	GAG		0.632	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	NM_007207	
RET	5979	broad.mit.edu	37	10	43606701	43606701	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr10:43606701A>T	ENST00000355710.3	+	7	1542	c.1310A>T	c.(1309-1311)aAc>aTc	p.N437I	RET_ENST00000340058.5_Missense_Mutation_p.N437I	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	437					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGTGGCATCAACGTCCAGTAC	0.582		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.2		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	T|Mis|N|F	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma		0				thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451						c.(1309-1311)AAC>ATC		ret proto-oncogene isoform a	Sunitinib(DB01268)						132.0	116.0	122.0					10																	43606701		2203	4300	6503	SO:0001583	missense	5979	Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43606701A>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1310A>T	10.37:g.43606701A>T	ENSP00000347942:p.Asn437Ile					RET_uc001jak.1_Missense_Mutation_p.N437I|RET_uc010qez.1_Missense_Mutation_p.N183I	p.N437I	NM_020975	NP_066124	P07949	RET_HUMAN			7	1500	+		Ovarian(717;0.0423)	437			Extracellular (Potential).		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.1310A>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	A	7.178	0.588926	0.13812	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	T;T	0.79141	-1.12;-1.24	5.61	0.489	0.16854	.	0.955495	0.08855	N	0.883847	T	0.63498	0.2516	L	0.38175	1.15	0.09310	N	1	B;B;B	0.29646	0.043;0.164;0.253	B;B;B	0.23018	0.019;0.019;0.043	T	0.52411	-0.8579	10	0.59425	D	0.04	.	3.672	0.08277	0.5591:0.2492:0.0679:0.1238	.	183;437;437	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	I	437	ENSP00000347942:N437I;ENSP00000344798:N437I	ENSP00000344798:N437I	N	+	2	0	RET	42926707	0.462000	0.25791	0.000000	0.03702	0.001000	0.01503	1.850000	0.39328	-0.154000	0.11118	-0.379000	0.06801	AAC		0.582	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975	
DNMBP	23268	broad.mit.edu	37	10	101716663	101716663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr10:101716663G>A	ENST00000324109.4	-	4	659	c.568C>T	c.(568-570)Cga>Tga	p.R190*	DNMBP_ENST00000342239.3_Nonsense_Mutation_p.R190*|DNMBP-AS1_ENST00000434409.1_RNA	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	190	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATGCCTCTTCGGCCCTCTAAC	0.488																																						uc001kqj.2																			0				ovary(5)|skin(1)	6						c.(568-570)CGA>TGA		dynamin binding protein							85.0	84.0	84.0					10																	101716663		2203	4300	6503	SO:0001587	stop_gained	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101716663G>A	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.568C>T	10.37:g.101716663G>A	ENSP00000315659:p.Arg190*					NCRNA00093_uc001kqk.1_RNA	p.R190*	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	660	-		Colorectal(252;0.234)	190			SH3 3.		Q8IVY3|Q9Y2L3	Nonsense_Mutation	SNP	ENST00000324109.4	37	c.568C>T	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038476	0.93630	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	.	.	.	4.94	4.94	0.65067	.	0.345520	0.21319	N	0.076519	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3516	14.0363	0.64646	0.0748:0.0:0.9252:0.0	.	.	.	.	X	190	.	ENSP00000315659:R190X	R	-	1	2	DNMBP	101706653	0.954000	0.32549	1.000000	0.80357	0.998000	0.95712	3.828000	0.55753	2.724000	0.93272	0.561000	0.74099	CGA		0.488	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221	
MKI67	4288	broad.mit.edu	37	10	129901328	129901329	+	Frame_Shift_Del	DEL	GA	GA	-	rs61729202	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr10:129901328_129901329delGA	ENST00000368654.3	-	13	9150_9151	c.8775_8776delTC	c.(8773-8778)tctcaafs	p.Q2926fs	MKI67_ENST00000368653.3_Frame_Shift_Del_p.Q2566fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2926	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTGGTGTTTGAGAGAGCTCTT	0.505																																						uc001lke.2																			0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(8773-8778)TCTCAAfs		antigen identified by monoclonal antibody Ki-67																																				SO:0001589	frameshift_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129901328_129901329delGA	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8775_8776delTC	10.37:g.129901332_129901333delGA	ENSP00000357643:p.Gln2926fs					MKI67_uc001lkf.2_Frame_Shift_Del_p.S2565fs|MKI67_uc009yav.1_Frame_Shift_Del_p.S2500fs|MKI67_uc009yaw.1_Frame_Shift_Del_p.S2075fs	p.S2925fs	NM_002417	NP_002408	P46013	KI67_HUMAN			13	8970_8971	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2925_2926			16 X 122 AA approximate repeats.|16.		Q5VWH2	Frame_Shift_Del	DEL	ENST00000368654.3	37	c.8775_8776delTC	CCDS7659.1																																																																																				0.505	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
ATHL1	80162	broad.mit.edu	37	11	294169	294169	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:294169C>T	ENST00000409548.2	+	12	1896	c.1781C>T	c.(1780-1782)gCg>gTg	p.A594V	ATHL1_ENST00000409479.1_Missense_Mutation_p.A621V|ATHL1_ENST00000409655.1_Missense_Mutation_p.A346V	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	594					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TTCCTGCAGGCGGTGGTCTTC	0.652																																						uc010qvu.1																			0				liver(1)|central_nervous_system(1)|skin(1)	3						c.(1780-1782)GCG>GTG		ATH1, acid trehalase-like 1							83.0	82.0	82.0					11																	294169		2202	4300	6502	SO:0001583	missense	80162				carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds	g.chr11:294169C>T	AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.1781C>T	11.37:g.294169C>T	ENSP00000387185:p.Ala594Val					ATHL1_uc001lor.3_Missense_Mutation_p.A346V|ATHL1_uc001lou.3_Missense_Mutation_p.A169V|ATHL1_uc001lov.3_Missense_Mutation_p.A55V	p.A594V	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	12	1896	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	594					Q658X8|Q8TEG9|Q9H635	Missense_Mutation	SNP	ENST00000409548.2	37	c.1781C>T	CCDS31322.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192279	0.78902	.	.	ENSG00000142102	ENST00000409548;ENST00000409655;ENST00000409479	.	.	.	4.52	4.52	0.55395	Glycoside hydrolase, family 65, central catalytic (1);Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	L	0.54908	1.71	0.52501	D	0.999953	D;D	0.61697	0.976;0.99	P;P	0.56960	0.642;0.81	T	0.64512	-0.6390	9	0.42905	T	0.14	.	12.1921	0.54277	0.0:0.9122:0.0:0.0878	.	594;346	Q32M88;B8ZZ60	ATHL1_HUMAN;.	V	594;346;621	.	ENSP00000387099:A621V	A	+	2	0	ATHL1	284169	1.000000	0.71417	0.997000	0.53966	0.813000	0.45954	4.555000	0.60767	2.252000	0.74401	0.491000	0.48974	GCG		0.652	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330164.3	NM_025092	
TNNT3	7140	broad.mit.edu	37	11	1956149	1956149	+	Splice_Site	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:1956149C>T	ENST00000397301.1	+	15	722	c.714C>T	c.(712-714)gaC>gaT	p.D238D	TNNT3_ENST00000381589.3_Splice_Site_p.D225D|TNNT3_ENST00000360603.3_Splice_Site_p.D221D|TNNT3_ENST00000397304.2_Splice_Site_p.D208D|TNNT3_ENST00000381561.4_Splice_Site_p.D230D|TNNT3_ENST00000446240.1_Splice_Site_p.D208D|TNNT3_ENST00000381548.3_Splice_Site_p.D229D|TNNT3_ENST00000381558.1_Splice_Site_p.D219D|TNNT3_ENST00000381579.3_Splice_Site_p.D219D|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000278317.6_Splice_Site_p.D227D|TNNT3_ENST00000381549.3_Splice_Site_p.D219D			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	238					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		AGAAATATGACGTGAGTCCCG	0.617																																						uc001luu.3																			0				ovary(1)	1						c.(679-681)GAC>GAT		troponin T3, skeletal, fast isoform 1							103.0	107.0	106.0					11																	1956149		2202	4299	6501	SO:0001630	splice_region_variant	7140				muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr11:1956149C>T	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"""troponin-T3, skeletal, fast"""	600692	"""troponin T3, skeletal, fast"""			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.714+1C>T	11.37:g.1956149C>T						TNNT3_uc001lun.2_Silent_p.D123D|TNNT3_uc001luw.3_Silent_p.D219D|TNNT3_uc001luo.3_Silent_p.D219D|TNNT3_uc001lup.3_Silent_p.D225D|TNNT3_uc001luq.3_Silent_p.D219D|TNNT3_uc001lur.2_Silent_p.D219D|TNNT3_uc010qxf.1_Silent_p.D225D|TNNT3_uc010qxg.1_Silent_p.D159D	p.D227D	NM_006757	NP_006748	P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	14	893	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	238					A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Silent	SNP	ENST00000397301.1	37	c.681C>T																																																																																					0.617	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	NM_006757	Silent
SLC6A5	9152	broad.mit.edu	37	11	20648387	20648387	+	Splice_Site	SNP	C	C	T	rs146647574	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:20648387C>T	ENST00000525748.1	+	8	1667	c.1394C>T	c.(1393-1395)aCg>aTg	p.T465M		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	465					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ACGGATGCCACGGTGGGCTTC	0.562																																						uc001mqd.2																			0				ovary(2)|breast(1)|skin(1)	4						c.(1393-1395)ACG>ATG		solute carrier family 6 (neurotransmitter	Glycine(DB00145)	C	MET/THR	3,4403	6.2+/-15.9	0,3,2200	98.0	94.0	95.0		1394	6.0	1.0	11	dbSNP_134	95	2,8598	2.2+/-6.3	0,2,4298	yes	missense-near-splice	SLC6A5	NM_004211.3	81	0,5,6498	TT,TC,CC		0.0233,0.0681,0.0384	benign	465/798	20648387	5,13001	2203	4300	6503	SO:0001630	splice_region_variant	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20648387C>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1395+1C>T	11.37:g.20648387C>T						SLC6A5_uc009yic.2_Missense_Mutation_p.T230M	p.T465M	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			8	1667	+			465					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.1394C>T	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.269015	0.40095	6.81E-4	2.33E-4	ENSG00000165970	ENST00000525748	T	0.74842	-0.88	6.04	6.04	0.98038	.	0.134719	0.64402	D	0.000003	T	0.57888	0.2084	N	0.24115	0.695	0.36378	D	0.861716	B	0.26975	0.165	B	0.20184	0.028	T	0.61362	-0.7078	10	0.41790	T	0.15	.	8.3345	0.32206	0.0:0.8169:0.0:0.1831	.	465	Q9Y345	SC6A5_HUMAN	M	465	ENSP00000434364:T465M	ENSP00000434364:T465M	T	+	2	0	SLC6A5	20604963	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.045000	0.49838	2.873000	0.98535	0.561000	0.74099	ACG		0.562	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211	Missense_Mutation
CHST1	8534	broad.mit.edu	37	11	45671489	45671489	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:45671489C>T	ENST00000308064.2	-	4	1655	c.985G>A	c.(985-987)Gcc>Acc	p.A329T	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	329					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		ATCCAGCGGGCCACGTGGCTG	0.632																																						uc001mys.1																			0				skin(4)|pancreas(1)	5						c.(985-987)GCC>ACC		carbohydrate (keratan sulfate Gal-6)							66.0	66.0	66.0					11																	45671489		2203	4299	6502	SO:0001583	missense	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671489C>T	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.985G>A	11.37:g.45671489C>T	ENSP00000309270:p.Ala329Thr						p.A329T	NM_003654	NP_003645	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1656	-			329			Lumenal (Potential).		D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	c.985G>A	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.227216	0.39399	.	.	ENSG00000175264	ENST00000308064	D	0.82167	-1.58	4.81	3.89	0.44902	Sulfotransferase domain (1);	0.244954	0.40222	N	0.001160	T	0.63248	0.2495	N	0.03608	-0.345	0.30077	N	0.809521	B	0.06786	0.001	B	0.04013	0.001	T	0.54662	-0.8260	10	0.20046	T	0.44	-16.682	12.8975	0.58108	0.0:0.9206:0.0:0.0794	.	329	O43916	CHST1_HUMAN	T	329	ENSP00000309270:A329T	ENSP00000309270:A329T	A	-	1	0	CHST1	45628065	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.707000	0.54838	0.997000	0.38969	0.462000	0.41574	GCC		0.632	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654	
TCN1	6947	broad.mit.edu	37	11	59629106	59629106	+	Missense_Mutation	SNP	G	G	C	rs139772818	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:59629106G>C	ENST00000257264.3	-	4	554	c.450C>G	c.(448-450)gaC>gaG	p.D150E	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	150	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGCCAAAACGTCCAGGCTGA	0.438																																						uc001noj.2																			0				ovary(2)	2						c.(448-450)GAC>GAG		transcobalamin I precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						108.0	105.0	106.0					11																	59629106		2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59629106G>C	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.450C>G	11.37:g.59629106G>C	ENSP00000257264:p.Asp150Glu						p.D150E	NM_001062	NP_001053	P20061	TCO1_HUMAN			4	548	-		all_epithelial(135;0.198)	150					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.450C>G	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107361	0.37145	.	.	ENSG00000134827	ENST00000257264	T	0.35973	1.28	5.12	-9.02	0.00741	.	0.196339	0.32416	N	0.006137	T	0.41305	0.1153	M	0.64997	1.995	0.09310	N	1	P	0.51449	0.945	P	0.52454	0.699	T	0.57458	-0.7808	10	0.36615	T	0.2	.	19.1284	0.93394	0.8687:0.0:0.1313:0.0	.	150	P20061	TCO1_HUMAN	E	150	ENSP00000257264:D150E	ENSP00000257264:D150E	D	-	3	2	TCN1	59385682	0.000000	0.05858	0.000000	0.03702	0.331000	0.28603	-3.089000	0.00610	-2.089000	0.00860	-0.137000	0.14449	GAC		0.438	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062	
KDELC2	143888	broad.mit.edu	37	11	108352840	108352840	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:108352840G>C	ENST00000323468.5	-	4	859	c.794C>G	c.(793-795)tCt>tGt	p.S265C	KDELC2_ENST00000375648.1_Missense_Mutation_p.S209C|KDELC2_ENST00000434945.2_Missense_Mutation_p.S209C|KDELC2_ENST00000532730.1_Intron	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	265						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TGAATCCAGAGAGCCACACCA	0.453																																						uc001pkj.2																			0				ovary(1)	1						c.(793-795)TCT>TGT		KDEL (Lys-Asp-Glu-Leu) containing 2 precursor							152.0	156.0	154.0					11																	108352840		1939	4134	6073	SO:0001583	missense	143888					endoplasmic reticulum lumen		g.chr11:108352840G>C	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.794C>G	11.37:g.108352840G>C	ENSP00000315386:p.Ser265Cys					KDELC2_uc001pki.2_Missense_Mutation_p.S209C	p.S265C	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	4	860	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	265					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	ENST00000323468.5	37	c.794C>G	CCDS41711.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022280	0.93462	.	.	ENSG00000178202	ENST00000323468;ENST00000434945;ENST00000375648	T;T;T	0.24908	1.83;1.83;1.83	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.59307	0.2184	M	0.87617	2.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.65348	-0.6190	10	0.87932	D	0	-1.0E-4	19.2529	0.93932	0.0:0.0:1.0:0.0	.	265;209	Q7Z4H8;Q7Z4H8-2	KDEL2_HUMAN;.	C	265;209;209	ENSP00000315386:S265C;ENSP00000413429:S209C;ENSP00000364799:S209C	ENSP00000315386:S265C	S	-	2	0	KDELC2	107858050	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.263000	0.95617	2.785000	0.95823	0.655000	0.94253	TCT		0.453	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705	
AMICA1	120425	broad.mit.edu	37	11	118085599	118085599	+	De_novo_Start_InFrame	SNP	A	A	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:118085599A>T	ENST00000356289.5	-	0	156				AMICA1_ENST00000292067.7_5'Flank|AMICA1_ENST00000526620.1_Intron|AMICA1_ENST00000533261.1_De_novo_Start_InFrame	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1						blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCAACTTTCAAATCTTAAGAT	0.393																																						uc001psk.2																			0				ovary(1)	1						c.(-19--15)ATTTG>ATATG		adhesion molecule, interacts with CXADR antigen							81.0	77.0	78.0					11																	118085599		1851	4089	5940			120425				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		g.chr11:118085599A>T	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9			11.37:g.118085599A>T						AMICA1_uc001psh.2_5'Flank|AMICA1_uc009yzw.1_5'Flank|AMICA1_uc001psi.2_5'Flank|AMICA1_uc001psj.2_Translation_Start_Site|AMICA1_uc010rxw.1_Intron|AMICA1_uc010rxx.1_Translation_Start_Site|AMICA1_uc001psl.1_5'Flank		NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	2	157	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)						B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Translation_Start_Site	SNP	ENST00000356289.5	37	c.-17T>A	CCDS41723.1																																																																																				0.393	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206	
ALG10B	144245	broad.mit.edu	37	12	38714180	38714180	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr12:38714180G>A	ENST00000308742.4	+	3	903	c.587G>A	c.(586-588)tGt>tAt	p.C196Y	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	196					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCTGTCTTCTGTGCAGGGAAT	0.398																																						uc001rln.3																			0				ovary(2)|skin(1)	3						c.(586-588)TGT>TAT		asparagine-linked glycosylation 10 homolog B							162.0	165.0	164.0					12																	38714180		2203	4300	6503	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714180G>A	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.587G>A	12.37:g.38714180G>A	ENSP00000310120:p.Cys196Tyr					ALG10B_uc001rlo.3_Missense_Mutation_p.C166Y|ALG10B_uc010skk.1_Missense_Mutation_p.C136Y	p.C196Y	NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN			3	726	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	196			Helical; (Potential).		B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.587G>A	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	g	13.05	2.121377	0.37436	.	.	ENSG00000175548	ENST00000308742	T	0.53857	0.6	3.26	3.26	0.37387	.	0.000000	0.85682	D	0.000000	T	0.52725	0.1752	L	0.44542	1.39	0.80722	D	1	D	0.61697	0.99	P	0.59115	0.852	T	0.51585	-0.8687	10	0.02654	T	1	.	12.7892	0.57523	0.0:0.0:1.0:0.0	.	196	Q5I7T1	AG10B_HUMAN	Y	196	ENSP00000310120:C196Y	ENSP00000310120:C196Y	C	+	2	0	ALG10B	37000447	1.000000	0.71417	0.994000	0.49952	0.413000	0.31143	7.434000	0.80377	2.124000	0.65301	0.561000	0.74099	TGT		0.398	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620	
MYO1A	4640	broad.mit.edu	37	12	57442017	57442017	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr12:57442017G>A	ENST00000442789.2	-	3	378	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	MYO1A_ENST00000300119.3_Missense_Mutation_p.R31C|MYO1A_ENST00000544473.1_5'Flank	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	31	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TTTTCATAGCGAAGCTGAAGA	0.542																																						uc001smw.3																			0				skin(4)|ovary(2)|urinary_tract(1)	7						c.(91-93)CGC>TGC		myosin IA							84.0	73.0	77.0					12																	57442017		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57442017G>A	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.91C>T	12.37:g.57442017G>A	ENSP00000393392:p.Arg31Cys					MYO1A_uc010sqz.1_5'Flank|MYO1A_uc009zpd.2_Missense_Mutation_p.R31C	p.R31C	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN			2	334	-			31			Myosin head-like.		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.91C>T	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550512	0.65311	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000433964	D;D;D	0.84944	-1.92;-1.92;-1.92	4.76	3.8	0.43715	Myosin head, motor domain (2);	0.000000	0.64402	D	0.000001	D	0.94676	0.8283	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94898	0.8054	10	0.87932	D	0	.	9.7862	0.40677	0.0:0.0:0.6726:0.3274	.	31	Q9UBC5	MYO1A_HUMAN	C	31	ENSP00000300119:R31C;ENSP00000393392:R31C;ENSP00000400991:R31C	ENSP00000300119:R31C	R	-	1	0	MYO1A	55728284	1.000000	0.71417	0.998000	0.56505	0.698000	0.40448	3.816000	0.55658	2.368000	0.80403	0.462000	0.41574	CGC		0.542	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379	
SLC17A8	246213	broad.mit.edu	37	12	100787226	100787226	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr12:100787226G>A	ENST00000323346.5	+	4	866	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	SLC17A8_ENST00000392989.3_Missense_Mutation_p.V185I	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	185					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTACGGATGCGTCATGTGTGT	0.448																																						uc010svi.1																			0				ovary(3)	3						c.(553-555)GTC>ATC		solute carrier family 17 (sodium-dependent							214.0	183.0	194.0					12																	100787226		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100787226G>A	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.553G>A	12.37:g.100787226G>A	ENSP00000316909:p.Val185Ile					SLC17A8_uc009ztx.2_Missense_Mutation_p.V185I	p.V185I	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			4	866	+			185			Helical; (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.553G>A	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.814212	0.90790	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.57595	0.39;0.39	5.25	5.25	0.73442	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.64360	0.2591	M	0.69358	2.11	0.80722	D	1	P;P	0.50819	0.905;0.939	P;P	0.51487	0.671;0.54	T	0.65384	-0.6181	10	0.46703	T	0.11	.	19.207	0.93734	0.0:0.0:1.0:0.0	.	185;185	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	I	185	ENSP00000316909:V185I;ENSP00000376715:V185I	ENSP00000316909:V185I	V	+	1	0	SLC17A8	99311357	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.444000	0.97578	2.596000	0.87737	0.655000	0.94253	GTC		0.448	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319	
CLEC14A	161198	broad.mit.edu	37	14	38724727	38724727	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr14:38724727G>A	ENST00000342213.2	-	1	847	c.501C>T	c.(499-501)aaC>aaT	p.N167N		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	167	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.N167N(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		ACAGGTAGCCGTTGGCGCGCA	0.682																																						uc001wum.1																			1	Substitution - coding silent(1)		endometrium(1)	ovary(3)|skin(1)	4						c.(499-501)AAC>AAT		C-type lectin domain family 14, member A							44.0	39.0	41.0					14																	38724727		2199	4290	6489	SO:0001819	synonymous_variant	161198					integral to membrane	sugar binding	g.chr14:38724727G>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.501C>T	14.37:g.38724727G>A							p.N167N	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	848	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		167			Extracellular (Potential).|C-type lectin.		Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	ENST00000342213.2	37	c.501C>T	CCDS9667.1																																																																																				0.682	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060	
SOS2	6655	broad.mit.edu	37	14	50626273	50626273	+	Silent	SNP	T	T	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr14:50626273T>C	ENST00000216373.5	-	10	2002	c.1728A>G	c.(1726-1728)gtA>gtG	p.V576V	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Silent_p.V543V	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	576					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AGTCTTTTACTACAAAACGAT	0.333																																						uc001wxs.3																			0				ovary(2)	2						c.(1726-1728)GTA>GTG		son of sevenless homolog 2							114.0	116.0	115.0					14																	50626273		2203	4300	6503	SO:0001819	synonymous_variant	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50626273T>C	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1728A>G	14.37:g.50626273T>C						SOS2_uc010tql.1_Silent_p.V543V|SOS2_uc010tqm.1_RNA|SOS2_uc001wxt.2_Silent_p.V264V	p.V576V	NM_006939	NP_008870	Q07890	SOS2_HUMAN			10	1826	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		576					B7ZKT6|D3DSB4|Q15503|Q17RN1	Silent	SNP	ENST00000216373.5	37	c.1728A>G	CCDS9697.1																																																																																				0.333	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2		
CEP128	145508	broad.mit.edu	37	14	81223256	81223256	+	Missense_Mutation	SNP	G	G	A	rs373994294		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr14:81223256G>A	ENST00000555265.1	-	18	2968	c.2593C>T	c.(2593-2595)Cgc>Tgc	p.R865C	CEP128_ENST00000281129.3_Missense_Mutation_p.R865C			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	865						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GCTAACCAGCGATGTGGGTCA	0.289																																						uc001xux.2																			0					0						c.(2593-2595)CGC>TGC		hypothetical protein LOC145508		G	CYS/ARG	0,4406		0,0,2203	66.0	66.0	66.0		2593	5.4	1.0	14		66	1,8593	1.2+/-3.3	0,1,4296	no	missense	CEP128	NM_152446.3	180	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	865/1095	81223256	1,12999	2203	4297	6500	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81223256G>A	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.2593C>T	14.37:g.81223256G>A	ENSP00000451162:p.Arg865Cys					C14orf145_uc010asz.1_RNA	p.R865C	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0586)	17	2764	-			865					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.2593C>T	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397980	0.83120	0.0	1.16E-4	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000554728	T;T	0.37411	1.2;1.2	5.36	5.36	0.76844	.	0.294097	0.27996	N	0.017019	T	0.56485	0.1988	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.55289	-0.8164	10	0.56958	D	0.05	.	17.6808	0.88242	0.0:0.0:1.0:0.0	.	865	Q6ZU80	CE128_HUMAN	C	865;865;865;66	ENSP00000281129:R865C;ENSP00000451162:R865C	ENSP00000281129:R865C	R	-	1	0	CEP128	80293009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.967000	0.70403	2.673000	0.90976	0.650000	0.86243	CGC		0.289	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446	
KIF26A	26153	broad.mit.edu	37	14	104639702	104639702	+	Silent	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr14:104639702C>T	ENST00000423312.2	+	9	1719	c.1719C>T	c.(1717-1719)gcC>gcT	p.A573A	KIF26A_ENST00000315264.7_Silent_p.A434A	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	573	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CACCCACGGCCGAGAAGGCGG	0.692																																						uc001yos.3																			0				pancreas(1)	1						c.(1717-1719)GCC>GCT		kinesin family member 26A							6.0	9.0	8.0					14																	104639702		1875	4052	5927	SO:0001819	synonymous_variant	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104639702C>T	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1719C>T	14.37:g.104639702C>T							p.A573A	NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	9	1719	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	573			Kinesin-motor.		Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	c.1719C>T	CCDS45171.1																																																																																				0.692	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1		
OR4N3P	390539	broad.mit.edu	37	15	22414053	22414053	+	IGR	SNP	C	C	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr15:22414053C>A								RP11-69H14.6 (30245 upstream) : RP11-2F9.4 (19836 downstream)																							GGTGGAGCTTCTGATGGTCTT	0.507																																						uc001yuf.2																			0					0						c.(352-354)CTG>ATG		RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13;																																				SO:0001628	intergenic_variant	390539							g.chr15:22414053C>A																													15.37:g.22414053C>A							p.L118M	NM_001080841	NP_001074310					1	352	+									Missense_Mutation	SNP		37	c.352C>A																																																																																				0	0.507								
SH3GL3	6457	broad.mit.edu	37	15	84237359	84237359	+	Missense_Mutation	SNP	C	C	T	rs201410848		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr15:84237359C>T	ENST00000427482.2	+	4	572	c.266C>T	c.(265-267)aCg>aTg	p.T89M	SH3GL3_ENST00000434347.1_Missense_Mutation_p.T97M|SH3GL3_ENST00000324537.5_Missense_Mutation_p.T97M|SH3GL3_ENST00000535412.1_Missense_Mutation_p.T89M	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	89	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TACCCGCAGACGGAAGGCTTG	0.507													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16509	0.0		0.0	False		,,,				2504	0.0					uc002bjw.2																			0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(265-267)ACG>ATG		SH3-domain GRB2-like 3							83.0	83.0	83.0					15																	84237359		2203	4300	6503	SO:0001583	missense	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84237359C>T	AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.266C>T	15.37:g.84237359C>T	ENSP00000391372:p.Thr89Met					SH3GL3_uc010uot.1_Missense_Mutation_p.T89M|SH3GL3_uc002bjx.2_Missense_Mutation_p.T20M|SH3GL3_uc002bju.2_Missense_Mutation_p.T97M|SH3GL3_uc002bjv.2_RNA	p.T89M	NM_003027	NP_003018	Q99963	SH3G3_HUMAN			4	461	+			89			BAR.		O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	c.266C>T	CCDS10325.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	23.6	4.433110	0.83776	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.86	4.86	0.63082	BAR (3);	0.107920	0.64402	D	0.000007	T	0.78130	0.4235	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.68943	0.927;0.961;0.954	T	0.78984	-0.1988	10	0.45353	T	0.12	-26.0409	17.3782	0.87398	0.0:1.0:0.0:0.0	.	89;89;97	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	M	89;89;97;97	ENSP00000391372:T89M;ENSP00000439239:T89M;ENSP00000320092:T97M;ENSP00000397871:T97M	ENSP00000320092:T97M	T	+	2	0	SH3GL3	82028363	1.000000	0.71417	0.896000	0.35187	0.902000	0.53008	7.445000	0.80570	2.402000	0.81655	0.544000	0.68410	ACG		0.507	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027	
UNC45A	55898	broad.mit.edu	37	15	91483616	91483616	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr15:91483616G>C	ENST00000418476.2	+	6	640	c.600G>C	c.(598-600)ttG>ttC	p.L200F	UNC45A_ENST00000394275.2_Missense_Mutation_p.L185F|UNC45A_ENST00000553671.2_3'UTR	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	200					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TTCAGCTCTTGCAACGTTTAC	0.567																																						uc002bqg.2																			0				ovary(2)	2						c.(598-600)TTG>TTC		smooth muscle cell associated protein-1 isoform							230.0	166.0	188.0					15																	91483616		2198	4298	6496	SO:0001583	missense	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91483616G>C		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.600G>C	15.37:g.91483616G>C	ENSP00000407487:p.Leu200Phe					UNC45A_uc002bqd.2_Missense_Mutation_p.L185F|UNC45A_uc010uqo.1_Missense_Mutation_p.L192F|UNC45A_uc010uqp.1_RNA|UNC45A_uc010uqq.1_Missense_Mutation_p.L200F	p.L200F	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		6	940	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		200					A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Missense_Mutation	SNP	ENST00000418476.2	37	c.600G>C	CCDS10367.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811913	0.50527	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.70045	-0.45;-0.45	5.38	1.35	0.21983	Armadillo-like helical (1);Armadillo-type fold (1);	0.094549	0.49916	D	0.000132	T	0.74442	0.3717	M	0.69823	2.125	0.44825	D	0.997839	D;D;D;D	0.76494	0.999;0.999;0.995;0.961	D;D;P;P	0.69479	0.946;0.964;0.873;0.617	T	0.71220	-0.4657	10	0.52906	T	0.07	-13.0338	6.1826	0.20480	0.2662:0.0:0.6137:0.1201	.	200;192;200;185	B4DZL0;B4DLE6;Q9H3U1;A8K6F7	.;.;UN45A_HUMAN;.	F	185;200	ENSP00000377816:L185F;ENSP00000407487:L200F	ENSP00000377816:L185F	L	+	3	2	UNC45A	89284620	1.000000	0.71417	0.898000	0.35279	0.340000	0.28889	2.580000	0.46068	0.361000	0.24292	0.650000	0.86243	TTG		0.567	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671	
SEZ6L2	26470	broad.mit.edu	37	16	29884701	29884701	+	Missense_Mutation	SNP	G	G	A	rs372252400		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr16:29884701G>A	ENST00000308713.5	-	14	2875	c.2348C>T	c.(2347-2349)aCg>aTg	p.T783M	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.T739M|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.T669M|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.T713M	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	783	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTGTACAGCGTCTGGTAGCC	0.622																																						uc002duq.3																			0				ovary(1)|skin(1)	2						c.(2347-2349)ACG>ATG		seizure related 6 homolog (mouse)-like 2 isoform		G	MET/THR,MET/THR,MET/THR,MET/THR	0,4394		0,0,2197	102.0	103.0	102.0		2138,2006,2138,2348	4.4	0.9	16		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SEZ6L2	NM_001114099.2,NM_001114100.2,NM_012410.3,NM_201575.3	81,81,81,81	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	713/841,669/810,713/854,783/911	29884701	1,12993	2197	4300	6497	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29884701G>A	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2348C>T	16.37:g.29884701G>A	ENSP00000312550:p.Thr783Met					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.T713M|SEZ6L2_uc002dur.3_Missense_Mutation_p.T713M|SEZ6L2_uc002dus.3_Missense_Mutation_p.T669M|SEZ6L2_uc010vec.1_Missense_Mutation_p.T783M|SEZ6L2_uc010ved.1_Missense_Mutation_p.T739M	p.T783M	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			14	2588	-			783			Sushi 5.|Extracellular (Potential).		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.2348C>T	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954245	0.73902	0.0	1.16E-4	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	4.39	4.39	0.52855	Complement control module (2);Sushi/SCR/CCP (3);	0.151000	0.30437	N	0.009621	T	0.78194	0.4245	M	0.64260	1.97	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;1.0;1.0;0.999;0.999;1.0	P;D;D;P;D;P	0.65773	0.886;0.938;0.938;0.855;0.91;0.897	T	0.80555	-0.1330	10	0.59425	D	0.04	.	15.8793	0.79193	0.0:0.0:1.0:0.0	.	739;783;669;713;783;713	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	M	713;783;669;739	ENSP00000310206:T713M;ENSP00000312550:T783M;ENSP00000319215:T669M;ENSP00000439412:T739M	ENSP00000312550:T783M	T	-	2	0	SEZ6L2	29792202	1.000000	0.71417	0.940000	0.37924	0.983000	0.72400	3.029000	0.49712	2.257000	0.74773	0.655000	0.94253	ACG		0.622	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410	
MYH1	4619	broad.mit.edu	37	17	10406199	10406199	+	Silent	SNP	C	C	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr17:10406199C>A	ENST00000226207.5	-	24	3061	c.2967G>T	c.(2965-2967)ctG>ctT	p.L989L	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	989					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGTTTCATCCAGACCCGCCA	0.507																																						uc002gmo.2																			0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(2965-2967)CTG>CTT		myosin, heavy chain 1, skeletal muscle, adult							196.0	184.0	188.0					17																	10406199		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10406199C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2967G>T	17.37:g.10406199C>A						uc002gml.1_Intron	p.L989L	NM_005963	NP_005954	P12882	MYH1_HUMAN			24	3061	-			989			Potential.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.2967G>T	CCDS11155.1																																																																																				0.507	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
SLFN13	146857	broad.mit.edu	37	17	33767745	33767745	+	Missense_Mutation	SNP	G	G	A	rs371744448		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr17:33767745G>A	ENST00000285013.6	-	6	2838	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	SLFN13_ENST00000360502.2_Missense_Mutation_p.R537W|SLFN13_ENST00000534689.1_Missense_Mutation_p.R537W|SLFN13_ENST00000533791.1_Missense_Mutation_p.R855W|SLFN13_ENST00000542635.1_Missense_Mutation_p.R855W|SLFN13_ENST00000526861.1_Missense_Mutation_p.R855W	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	855						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GAGAATCGCCGGACACTGTCC	0.483																																						uc002hjk.1																			0				ovary(1)|breast(1)	2						c.(2563-2565)CGG>TGG		schlafen family member 13		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	253.0	216.0	228.0		2563	3.3	0.9	17		228	0,8600		0,0,4300	no	missense	SLFN13	NM_144682.5	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	855/898	33767745	1,13005	2203	4300	6503	SO:0001583	missense	146857					intracellular	ATP binding	g.chr17:33767745G>A	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2563C>T	17.37:g.33767745G>A	ENSP00000285013:p.Arg855Trp					SLFN13_uc010wch.1_Missense_Mutation_p.R855W|SLFN13_uc002hjl.2_Missense_Mutation_p.R855W|SLFN13_uc010ctt.2_Missense_Mutation_p.R537W|SLFN13_uc002hjm.2_Missense_Mutation_p.R524W	p.R855W	NM_144682	NP_653283	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	4	2893	-			855					E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	c.2563C>T	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	g	24.6	4.551490	0.86127	2.27E-4	0.0	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	3.26	3.26	0.37387	.	0.000000	0.43260	D	0.000597	D	0.89598	0.6761	M	0.80183	2.485	0.31505	N	0.664326	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.985	D	0.88752	0.3251	10	0.72032	D	0.01	.	10.1278	0.42661	0.0:0.0:1.0:0.0	.	537;855	Q68D06-2;Q68D06	.;SLN13_HUMAN	W	855;537;855;855;537	ENSP00000285013:R855W;ENSP00000353692:R537W;ENSP00000434439:R855W;ENSP00000444016:R855W;ENSP00000435442:R537W	ENSP00000285013:R855W	R	-	1	2	SLFN13	30791858	0.049000	0.20398	0.906000	0.35671	0.889000	0.51656	2.329000	0.43876	1.807000	0.52817	0.400000	0.26472	CGG		0.483	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682	
KRTAP1-3	81850	broad.mit.edu	37	17	39190659	39190659	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr17:39190659C>T	ENST00000344363.5	-	1	448	c.415G>A	c.(415-417)Gcc>Acc	p.A139T		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	149				TP -> HT (in Ref. 1; CAA44938). {ECO:0000305}.		keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GAGGCCTCGGCGTGGTGCAGC	0.652																																						uc002hvv.2																			0					0						c.(415-417)GCC>ACC		keratin associated protein 1-3							29.0	35.0	33.0					17																	39190659		2069	4197	6266	SO:0001583	missense	81850					extracellular region|keratin filament	structural constituent of epidermis	g.chr17:39190659C>T	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.415G>A	17.37:g.39190659C>T	ENSP00000344420:p.Ala139Thr						p.A139T	NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	449	-		Breast(137;0.000496)	149					Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	ENST00000344363.5	37	c.415G>A	CCDS42323.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940021	0.73557	.	.	ENSG00000221880	ENST00000344363	T	0.35973	1.28	4.52	3.53	0.40419	.	.	.	.	.	T	0.56906	0.2017	.	.	.	0.29205	N	0.874946	D	0.89917	1.0	D	0.85130	0.997	T	0.53056	-0.8492	8	0.66056	D	0.02	.	10.5493	0.45079	0.1937:0.8063:0.0:0.0	.	149	Q8IUG1	KRA13_HUMAN	T	139	ENSP00000344420:A139T	ENSP00000344420:A139T	A	-	1	0	KRTAP1-3	36444185	0.709000	0.27886	0.879000	0.34478	0.987000	0.75469	0.999000	0.29757	1.184000	0.42957	0.643000	0.83706	GCC		0.652	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1		
OR4D2	124538	broad.mit.edu	37	17	56247206	56247206	+	Nonsense_Mutation	SNP	C	C	T	rs148589207		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr17:56247206C>T	ENST00000545221.1	+	1	190	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CTTTCTGCTCCGAAACCTGGC	0.483																																						uc010wnp.1																			0				ovary(1)|breast(1)	2						c.(190-192)CGA>TGA		olfactory receptor, family 4, subfamily D,		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	198.0	180.0	186.0		190	3.4	0.5	17	dbSNP_134	186	0,8600		0,0,4300	yes	stop-gained	OR4D2	NM_001004707.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		64/308	56247206	1,13005	2203	4300	6503	SO:0001587	stop_gained	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247206C>T		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.190C>T	17.37:g.56247206C>T	ENSP00000441354:p.Arg64*						p.R64*	NM_001004707	NP_001004707	P58180	OR4D2_HUMAN			1	190	+			64			Helical; Name=2; (Potential).		Q6IFN8|Q96R75	Nonsense_Mutation	SNP	ENST00000545221.1	37	c.190C>T	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699404	0.68501	2.27E-4	0.0	ENSG00000255713	ENST00000545221	.	.	.	5.4	3.42	0.39159	.	0.000000	0.47455	D	0.000223	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-0.4778	5.7928	0.18369	0.1532:0.6839:0.0:0.1629	.	.	.	.	X	64	.	ENSP00000441354:R64X	R	+	1	2	OR4D2	53602205	0.000000	0.05858	0.533000	0.28001	0.882000	0.50991	-1.474000	0.02337	0.788000	0.33755	-0.166000	0.13349	CGA		0.483	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1		
EPB41L3	23136	broad.mit.edu	37	18	5395100	5395100	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr18:5395100A>G	ENST00000341928.2	-	21	3459	c.3119T>C	c.(3118-3120)gTc>gCc	p.V1040A	EPB41L3_ENST00000542146.1_Missense_Mutation_p.V345A|EPB41L3_ENST00000427684.2_Missense_Mutation_p.V337A|EPB41L3_ENST00000540638.2_Missense_Mutation_p.V818A|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.V871A|EPB41L3_ENST00000400111.3_Missense_Mutation_p.V818A|EPB41L3_ENST00000342933.3_Missense_Mutation_p.V1040A	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1040	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCCCGTGATGACTATTCGCTT	0.448																																						uc002kmt.1																			0				ovary(5)	5						c.(3118-3120)GTC>GCC		erythrocyte membrane protein band 4.1-like 3							150.0	127.0	135.0					18																	5395100		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5395100A>G	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3119T>C	18.37:g.5395100A>G	ENSP00000343158:p.Val1040Ala					EPB41L3_uc010wzh.1_Missense_Mutation_p.V871A|EPB41L3_uc002kmu.1_Missense_Mutation_p.V818A|EPB41L3_uc010dkq.1_Missense_Mutation_p.V709A|EPB41L3_uc002kms.1_Missense_Mutation_p.V275A|EPB41L3_uc010wze.1_Missense_Mutation_p.V345A|EPB41L3_uc010wzf.1_Missense_Mutation_p.V337A|EPB41L3_uc010wzg.1_Missense_Mutation_p.V312A|EPB41L3_uc010dkr.2_Missense_Mutation_p.V432A	p.V1040A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			21	3205	-			1040			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.3119T>C	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	A	32	5.161427	0.94727	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.93	5.93	0.95920	Band 4.1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92237	0.7538	M	0.87180	2.865	0.80722	D	1	D;D;D;D;D;P;D;P	0.89917	0.986;0.996;0.999;0.972;0.999;0.952;1.0;0.944	D;D;D;D;D;P;D;D	0.91635	0.977;0.986;0.997;0.928;0.994;0.814;0.999;0.968	D	0.93223	0.6610	10	0.66056	D	0.02	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	871;337;345;432;709;818;1040;275	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	A	1040;709;871;709;337;345;1040;818	ENSP00000343158:V1040A;ENSP00000441174:V871A;ENSP00000392195:V337A;ENSP00000442233:V345A;ENSP00000341138:V1040A;ENSP00000382981:V818A	ENSP00000343158:V1040A	V	-	2	0	EPB41L3	5385100	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.281000	0.95811	2.281000	0.76405	0.533000	0.62120	GTC		0.448	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	
MC5R	4161	broad.mit.edu	37	18	13826447	13826447	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr18:13826447C>T	ENST00000324750.3	+	1	905	c.683C>T	c.(682-684)gCg>gTg	p.A228V	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	228				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1). {ECO:0000305}.	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GCCAGCTCTGCGCGGCAGAGG	0.612																																						uc010xaf.1																			0				ovary(3)|lung(2)|breast(1)	6						c.(682-684)GCG>GTG		melanocortin 5 receptor							213.0	183.0	193.0					18																	13826447		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826447C>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.683C>T	18.37:g.13826447C>T	ENSP00000318077:p.Ala228Val						p.A228V	NM_005913	NP_005904	P33032	MC5R_HUMAN			1	683	+			228	ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).		Cytoplasmic (Potential).		B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.683C>T	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	C	0.067	-1.209878	0.01555	.	.	ENSG00000176136	ENST00000324750	T	0.38560	1.13	4.88	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	0.175474	0.49916	N	0.000124	T	0.12774	0.0310	N	0.01235	-0.94	0.22552	N	0.998996	B	0.02656	0.0	B	0.06405	0.002	T	0.32587	-0.9901	10	0.07813	T	0.8	.	8.6486	0.34020	0.0:0.1638:0.0:0.8362	.	228	P33032	MC5R_HUMAN	V	228	ENSP00000318077:A228V	ENSP00000318077:A228V	A	+	2	0	MC5R	13816447	0.998000	0.40836	0.002000	0.10522	0.007000	0.05969	2.894000	0.48640	0.195000	0.20347	-0.680000	0.03767	GCG		0.612	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913	
CDH19	28513	broad.mit.edu	37	18	64218345	64218345	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr18:64218345G>A	ENST00000540086.1	-	5	1007	c.761C>T	c.(760-762)cCt>cTt	p.P254L	CDH19_ENST00000262150.2_Missense_Mutation_p.P254L	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	360	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTTAAATATAGGCTTATTGTC	0.294																																						uc002lkc.1																			0				ovary(1)|skin(1)	2						c.(760-762)CCT>CTT		cadherin 19, type 2 preproprotein							53.0	55.0	54.0					18																	64218345		2202	4300	6502	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64218345G>A	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.761C>T	18.37:g.64218345G>A	ENSP00000439593:p.Pro254Leu					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.P254L|CDH19_uc002lkd.2_Missense_Mutation_p.P254L	p.P254L	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			5	899	-		Esophageal squamous(42;0.0132)	254			Cadherin 2.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.761C>T	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812442	0.50527	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.72394	-0.65;-0.65	5.83	5.83	0.93111	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.90872	0.7132	H	0.98133	4.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93623	0.6949	10	0.87932	D	0	.	19.7091	0.96085	0.0:0.0:1.0:0.0	.	254;254	F5H1K0;Q9H159	.;CAD19_HUMAN	L	254;254;199	ENSP00000262150:P254L;ENSP00000439593:P254L	ENSP00000262150:P254L	P	-	2	0	CDH19	62369325	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	8.865000	0.92300	2.763000	0.94921	0.585000	0.79938	CCT		0.294	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153	
NFIX	4784	broad.mit.edu	37	19	13189498	13189498	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:13189498C>T	ENST00000592199.1	+	7	1027	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	NFIX_ENST00000397661.2_Missense_Mutation_p.R343C|NFIX_ENST00000360105.4_Intron|NFIX_ENST00000587760.1_Missense_Mutation_p.R335C|NFIX_ENST00000358552.3_Intron|NFIX_ENST00000585575.1_Missense_Mutation_p.R335C|NFIX_ENST00000588228.1_Missense_Mutation_p.R296C|NFIX_ENST00000587260.1_Missense_Mutation_p.R342C			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	343					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CAGCTCCCCGCGCATGGCTTT	0.642																																						uc010xmx.1																			0				breast(1)|skin(1)	2						c.(1051-1053)CGC>TGC		RecName: Full=Nuclear factor 1;							19.0	22.0	21.0					19																	13189498		1994	4153	6147	SO:0001583	missense	4784				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:13189498C>T	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.1027C>T	19.37:g.13189498C>T	ENSP00000467512:p.Arg343Cys					NFIX_uc002mwd.2_Missense_Mutation_p.R343C|NFIX_uc002mwe.2_Missense_Mutation_p.R335C|NFIX_uc002mwf.2_Intron|NFIX_uc002mwg.1_Missense_Mutation_p.R342C	p.R351C			Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		7	1104	+			343					B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Missense_Mutation	SNP	ENST00000592199.1	37	c.1051C>T		.	.	.	.	.	.	.	.	.	.	C	25.0	4.588627	0.86851	.	.	ENSG00000008441	ENST00000397661;ENST00000360105	T	0.42513	0.97	5.28	5.28	0.74379	.	0.156005	0.46442	D	0.000282	T	0.57844	0.2081	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.76494	0.998;0.995;0.999;0.997	P;P;P;P	0.60886	0.828;0.736;0.88;0.736	T	0.58493	-0.7627	10	0.48119	T	0.1	.	13.3365	0.60520	0.1586:0.8414:0.0:0.0	.	351;342;343;343	B4DHW2;Q14938-5;Q14938;Q14938-3	.;.;NFIX_HUMAN;.	C	343	ENSP00000380781:R343C	ENSP00000353219:R343C	R	+	1	0	NFIX	13050498	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.975000	0.56859	2.464000	0.83262	0.603000	0.83216	CGC		0.642	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501	
CYP4F22	126410	broad.mit.edu	37	19	15648390	15648390	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:15648390C>T	ENST00000269703.3	+	6	665	c.466C>T	c.(466-468)Cgt>Tgt	p.R156C	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R156C	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	156						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GAGCCGGCACCGTCGCCTGCT	0.542																																						uc002nbh.3																			0				ovary(1)|pancreas(1)	2						c.(466-468)CGT>TGT		cytochrome P450, family 4, subfamily F,							69.0	69.0	69.0					19																	15648390		2203	4300	6503	SO:0001583	missense	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15648390C>T		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.466C>T	19.37:g.15648390C>T	ENSP00000269703:p.Arg156Cys						p.R156C	NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN			6	633	+			156					Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	c.466C>T	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088356	0.76756	.	.	ENSG00000171954	ENST00000269703	D	0.85955	-2.05	5.27	5.27	0.74061	.	0.059415	0.64402	D	0.000003	D	0.94912	0.8355	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96366	0.9270	10	0.87932	D	0	.	16.4017	0.83642	0.0:1.0:0.0:0.0	.	156	Q6NT55	CP4FN_HUMAN	C	156	ENSP00000269703:R156C	ENSP00000269703:R156C	R	+	1	0	CYP4F22	15509390	1.000000	0.71417	0.986000	0.45419	0.915000	0.54546	3.595000	0.54016	2.475000	0.83589	0.313000	0.20887	CGT		0.542	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483	
UPF1	5976	broad.mit.edu	37	19	18968250	18968250	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:18968250G>A	ENST00000599848.1	+	15	2332	c.2123G>A	c.(2122-2124)cGc>cAc	p.R708H	UPF1_ENST00000262803.5_Missense_Mutation_p.R697H			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	708					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGGCCCATCCGCCTGCAGGTC	0.642																																						uc002nkg.2																			0				ovary(1)|central_nervous_system(1)	2						c.(2122-2124)CGC>CAC		regulator of nonsense transcripts 1							37.0	37.0	37.0					19																	18968250		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	g.chr19:18968250G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2123G>A	19.37:g.18968250G>A	ENSP00000470142:p.Arg708His					UPF1_uc002nkf.2_Missense_Mutation_p.R697H|UPF1_uc002nkh.2_5'Flank	p.R708H	NM_002911	NP_002902	Q92900	RENT1_HUMAN			15	2398	+			708					O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.2123G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.275120	0.95459	.	.	ENSG00000005007	ENST00000262803	D	0.92348	-3.02	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.95623	0.8577	M	0.76727	2.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.991	D	0.96257	0.9188	10	0.87932	D	0	-41.6506	16.1478	0.81583	0.0:0.0:1.0:0.0	.	708;697	Q92900;Q92900-2	RENT1_HUMAN;.	H	697	ENSP00000262803:R697H	ENSP00000262803:R697H	R	+	2	0	UPF1	18829250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.369000	0.97156	2.159000	0.67721	0.561000	0.74099	CGC		0.642	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911	
ATP13A1	57130	broad.mit.edu	37	19	19758484	19758484	+	Frame_Shift_Del	DEL	C	C	-			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:19758484delC	ENST00000357324.6	-	20	2743	c.2717delG	c.(2716-2718)ggcfs	p.G906fs	ATP13A1_ENST00000291503.5_Frame_Shift_Del_p.G788fs	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	906						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGCTCTGATGCCACTGTTGCT	0.697																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	uc002nnh.3																			0				ovary(3)|large_intestine(2)|central_nervous_system(1)	6						c.(2716-2718)GGCfs		ATPase type 13A1							30.0	29.0	30.0					19																	19758484		2203	4300	6503	SO:0001589	frameshift_variant	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19758484delC	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.2717delG	19.37:g.19758484delC	ENSP00000349877:p.Gly906fs					ATP13A1_uc002nne.2_Frame_Shift_Del_p.G46fs|ATP13A1_uc002nnf.3_Frame_Shift_Del_p.G274fs|ATP13A1_uc002nng.2_Frame_Shift_Del_p.G788fs	p.G906fs	NM_020410	NP_065143	Q9HD20	AT131_HUMAN			20	2745	-			906			Cytoplasmic (Potential).		B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Frame_Shift_Del	DEL	ENST00000357324.6	37	c.2717delG	CCDS32970.2																																																																																				0.697	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410	
ZNF676	163223	broad.mit.edu	37	19	22363727	22363727	+	Silent	SNP	G	G	A	rs375422919		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:22363727G>A	ENST00000397121.2	-	3	1109	c.792C>T	c.(790-792)agC>agT	p.S264S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	264					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(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGGTTGAGACGCTACTAAATC	0.398																																						uc002nqs.1																			0					0						c.(790-792)AGC>AGT		zinc finger protein 676		G		0,4316		0,0,2158	94.0	100.0	98.0		792	-1.6	0.0	19		98	1,8545		0,1,4272	no	coding-synonymous	ZNF676	NM_001001411.2		0,1,6430	AA,AG,GG		0.0117,0.0,0.0078		264/589	22363727	1,12861	2158	4273	6431	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363727G>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.792C>T	19.37:g.22363727G>A							p.S264S	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1110	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	264			C2H2-type 4.		A8MVX5	Silent	SNP	ENST00000397121.2	37	c.792C>T	CCDS42539.1																																																																																				0.398	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411	
RPSAP58	388524	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:24010294C>G	ENST00000496398.1	+	4	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E	RP11-255H23.2_ENST00000471224.1_RNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.Q111E|RP11-255H23.4_ENST00000599944.1_lincRNA					ribosomal protein SA pseudogene 58									p.Q111E(12)		endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						CTTCACTAACCAGATCCAGGC	0.567																																						uc002nrn.2																			12	Substitution - Missense(12)		kidney(6)|urinary_tract(2)|prostate(2)|endometrium(2)		0						c.(331-333)CAG>GAG		ribosomal protein SA																																				SO:0001583	missense	388524							g.chr19:24010294C>G			19p12	2010-06-16			ENSG00000205246	ENSG00000205246			36809	pseudogene	pseudogene						19123937	Standard	NR_003662		Approved		uc002nrn.3		OTTHUMG00000158122	ENST00000496398.1:c.331C>G	19.37:g.24010294C>G	ENSP00000417240:p.Gln111Glu						p.Q111E	NM_002295	NP_002286					4	754	+									Missense_Mutation	SNP	ENST00000496398.1	37	c.331C>G		.	.	.	.	.	.	.	.	.	.	.	13.90	2.375690	0.42105	.	.	ENSG00000205246	ENST00000496398;ENST00000354585	T;T	0.21932	1.98;1.98	2.52	2.52	0.30459	.	0.000000	0.64402	U	0.000001	T	0.17619	0.0423	.	.	.	0.48830	D	0.999718	B	0.34226	0.443	B	0.32624	0.149	T	0.11084	-1.0602	9	0.72032	D	0.01	.	10.8987	0.47038	0.0:1.0:0.0:0.0	.	111	A6NE09	.	E	111	ENSP00000417240:Q111E;ENSP00000346598:Q111E	ENSP00000346598:Q111E	Q	+	1	0	RPSAP58	23802134	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	4.812000	0.62613	1.477000	0.48234	0.627000	0.83407	CAG		0.567	RPSAP58-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000350238.1	NR_003662	
FAM187B	148109	broad.mit.edu	37	19	35719014	35719014	+	Silent	SNP	G	G	A	rs551881022		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:35719014G>A	ENST00000324675.3	-	1	618	c.570C>T	c.(568-570)agC>agT	p.S190S		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	190						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						GCCGCAAGCGGCTAGACCACA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		17619	0.0		0.0	False		,,,				2504	0.001					uc002nyk.1																			0				ovary(2)	2						c.(568-570)AGC>AGT		family with sequence similarity 187, member B							65.0	59.0	61.0					19																	35719014		2203	4300	6503	SO:0001819	synonymous_variant	148109					integral to membrane		g.chr19:35719014G>A	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.570C>T	19.37:g.35719014G>A							p.S190S	NM_152481	NP_689694	Q17R55	F187B_HUMAN			1	615	-			190			Extracellular (Potential).		Q8N7G6	Silent	SNP	ENST00000324675.3	37	c.570C>T	CCDS12448.1																																																																																				0.577	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481	
RYR1	6261	broad.mit.edu	37	19	39051893	39051893	+	Silent	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:39051893C>T	ENST00000359596.3	+	90	12423	c.12423C>T	c.(12421-12423)aaC>aaT	p.N4141N	RYR1_ENST00000355481.4_Silent_p.N4136N|RYR1_ENST00000360985.3_Silent_p.N4136N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4141					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)	TCGGCTTCAACGTGGCGGTGC	0.592																																						uc002oit.2																			0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(12421-12423)AAC>AAT		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						86.0	72.0	77.0					19																	39051893		2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:39051893C>T	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.12423C>T	19.37:g.39051893C>T						RYR1_uc002oiu.2_Silent_p.N4136N|RYR1_uc002oiv.1_Silent_p.N1050N	p.N4141N	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		90	12553	+	all_cancers(60;7.91e-06)		4141					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.12423C>T	CCDS33011.1																																																																																				0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
CYP2B6	1555	broad.mit.edu	37	19	41512823	41512823	+	Silent	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:41512823C>T	ENST00000324071.4	+	4	505	c.498C>T	c.(496-498)gaC>gaT	p.D166D	CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	166					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CCCTCATGGACCCCACCTTCC	0.512																																						uc002opr.1																			0				ovary(1)|skin(1)	2						c.(496-498)GAC>GAT		cytochrome P450, family 2, subfamily B,	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						70.0	63.0	66.0					19																	41512823		2203	4300	6503	SO:0001819	synonymous_variant	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41512823C>T	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.498C>T	19.37:g.41512823C>T						CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron	p.D166D	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		4	505	+			166					B4DWP3|Q2V565|Q9UK46	Silent	SNP	ENST00000324071.4	37	c.498C>T	CCDS12570.1																																																																																				0.512	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767	
MYH14	79784	broad.mit.edu	37	19	50812362	50812362	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:50812362G>A	ENST00000596571.1	+	39	5765	c.5765G>A	c.(5764-5766)cGt>cAt	p.R1922H	CTB-191K22.5_ENST00000595563.1_RNA|MYH14_ENST00000262269.8_Missense_Mutation_p.R1963H|MYH14_ENST00000425460.1_Missense_Mutation_p.R1930H|MYH14_ENST00000376970.2_Missense_Mutation_p.R1955H|MYH14_ENST00000601313.1_Missense_Mutation_p.R1963H|MYH14_ENST00000440075.2_Missense_Mutation_p.R1963H|MYH14_ENST00000598205.1_Missense_Mutation_p.R1930H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1922					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGGCTGCAGCGTGAGCTGGAA	0.632																																						uc002prr.1																			0				central_nervous_system(1)	1						c.(5764-5766)CGT>CAT		myosin, heavy chain 14 isoform 2							73.0	76.0	75.0					19																	50812362		2094	4214	6308	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50812362G>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5765G>A	19.37:g.50812362G>A	ENSP00000472819:p.Arg1922His					MYH14_uc010enu.1_Missense_Mutation_p.R1963H|MYH14_uc002prq.1_Missense_Mutation_p.R1930H|MYH14_uc010ycb.1_Missense_Mutation_p.R273H|MYH14_uc002prs.1_Missense_Mutation_p.R273H	p.R1922H	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	40	5812	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1922			Potential.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.5765G>A	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866485	0.51588	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	3.82	1.6	0.23607	Myosin tail (1);	.	.	.	.	T	0.60287	0.2257	L	0.33245	0.995	0.50039	D	0.999849	B;B;B	0.27416	0.051;0.062;0.178	B;B;B	0.30105	0.039;0.066;0.111	T	0.49698	-0.8912	9	0.02654	T	1	.	7.8003	0.29170	0.1908:0.0:0.8092:0.0	.	1963;1922;1930	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	1963;1955;1930;1706;1963	ENSP00000406273:R1963H;ENSP00000366169:R1955H;ENSP00000407879:R1930H;ENSP00000262269:R1963H	ENSP00000262269:R1963H	R	+	2	0	MYH14	55504174	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	5.879000	0.69690	0.368000	0.24481	0.462000	0.41574	CGT		0.632	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729	
ZNF135	7694	broad.mit.edu	37	19	58579130	58579130	+	Silent	SNP	C	C	T	rs141591921	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:58579130C>T	ENST00000313434.5	+	5	1379	c.1278C>T	c.(1276-1278)acC>acT	p.T426T	ZNF135_ENST00000439855.2_Silent_p.T426T|ZNF135_ENST00000506786.1_Silent_p.T384T|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000511556.1_Silent_p.T438T|ZNF135_ENST00000401053.4_Silent_p.T450T	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	426					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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)	p.T426T(1)|p.T450T(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CACTCCTGACCGAGCATCGGA	0.547													C|||	2	0.000399361	0.0008	0.0	5008	,	,		21290	0.0		0.0	False		,,,				2504	0.001					uc010yhq.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1312-1314)ACC>ACT		zinc finger protein 135 isoform 2		C	,,,	0,4406		0,0,2203	71.0	71.0	71.0		,,1314,1350	-6.2	0.0	19	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,intron,coding-synonymous,coding-synonymous	ZNF135	NM_001164529.1,NM_001164530.1,NM_003436.3,NM_007134.1	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	,,438/671,450/683	58579130	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58579130C>T	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1278C>T	19.37:g.58579130C>T						ZNF135_uc002qre.2_Silent_p.T426T|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Silent_p.T384T|ZNF135_uc002qrg.2_Silent_p.T396T|ZNF135_uc010yhr.1_Silent_p.T247T	p.T438T	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1410	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	438					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Silent	SNP	ENST00000313434.5	37	c.1314C>T		.	.	.	.	.	.	.	.	.	.	C	0.004	-2.248508	0.00271	0.0	1.16E-4	ENSG00000176293	ENST00000391699	.	.	.	3.1	-6.2	0.02072	.	.	.	.	.	T	0.22704	0.0548	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.05852	-1.0860	4	.	.	.	.	3.6953	0.08361	0.1913:0.1646:0.4813:0.1628	.	.	.	.	L	444	.	.	P	+	2	0	ZNF135	63270942	0.000000	0.05858	0.047000	0.18901	0.003000	0.03518	-9.557000	0.00010	-5.416000	0.00015	-3.537000	0.00031	CCG		0.547	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436	
APOB	338	broad.mit.edu	37	2	21233457	21233457	+	Missense_Mutation	SNP	C	C	T	rs200874264		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:21233457C>T	ENST00000233242.1	-	26	6410	c.6283G>A	c.(6283-6285)Gta>Ata	p.V2095I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2095	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCTCTGTACGTTTTCCAGT	0.368																																						uc002red.2																			0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(6283-6285)GTA>ATA		apolipoprotein B precursor	Atorvastatin(DB01076)						69.0	72.0	71.0					2																	21233457		2203	4299	6502	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233457C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6283G>A	2.37:g.21233457C>T	ENSP00000233242:p.Val2095Ile						p.V2095I	NM_000384	NP_000375	P04114	APOB_HUMAN			26	6411	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2095			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.6283G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.329336	0.00229	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00675	5.88	5.14	-0.674	0.11369	.	0.683578	0.13782	N	0.363149	T	0.00328	0.0010	N	0.01800	-0.715	0.40036	D	0.975595	B	0.02656	0.0	B	0.01281	0.0	T	0.43180	-0.9407	10	0.02654	T	1	.	7.2646	0.26222	0.0:0.2765:0.1816:0.5419	.	2095	P04114	APOB_HUMAN	I	2095	ENSP00000233242:V2095I	ENSP00000233242:V2095I	V	-	1	0	APOB	21086962	0.007000	0.16637	0.001000	0.08648	0.001000	0.01503	0.030000	0.13688	-0.004000	0.14419	-0.415000	0.06103	GTA		0.368	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
TMEM150A	129303	broad.mit.edu	37	2	85828199	85828199	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:85828199C>G	ENST00000409668.1	-	3	612	c.145G>C	c.(145-147)Gct>Cct	p.A49P	TMEM150A_ENST00000334462.5_Missense_Mutation_p.A49P|TMEM150A_ENST00000306353.3_Silent_p.L18L			Q86TG1	T150A_HUMAN	transmembrane protein 150A	49					catabolic process (GO:0009056)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						CCTTGCTCAGCAGGGTCAGGA	0.642																																						uc002spw.1																			0					0						c.(145-147)GCT>CCT		transmembrane protein 150A isoform 1							56.0	48.0	51.0					2																	85828199		2203	4300	6503	SO:0001583	missense	129303					integral to membrane|plasma membrane		g.chr2:85828199C>G	AK098152	CCDS33233.1	2p11.2	2009-06-12	2009-06-12	2009-06-12	ENSG00000168890	ENSG00000168890			24677	protein-coding gene	gene with protein product			"""transmembrane protein 150"""	TMEM150		10858565	Standard	NM_001031738		Approved	TM6P1, FLJ90024	uc002spy.2	Q86TG1	OTTHUMG00000130168	ENST00000409668.1:c.145G>C	2.37:g.85828199C>G	ENSP00000387292:p.Ala49Pro					USP39_uc002sqb.2_5'Flank|TMEM150A_uc002spx.1_5'UTR|TMEM150A_uc002spz.1_Silent_p.L18L|TMEM150A_uc002sqa.1_5'UTR|TMEM150A_uc002spy.1_Missense_Mutation_p.A49P	p.A49P	NM_001031738	NP_001026908	Q86TG1	T150A_HUMAN			3	866	-			49			Extracellular (Potential).		A8K764|B7WPQ9|D6W5L2|Q8N2R6	Missense_Mutation	SNP	ENST00000409668.1	37	c.145G>C	CCDS33233.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489384	0.26686	.	.	ENSG00000168890	ENST00000334462;ENST00000409668	T;T	0.45668	0.89;0.89	5.06	4.17	0.49024	.	0.340804	0.29260	N	0.012666	T	0.23611	0.0571	N	0.13043	0.29	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.13683	-1.0500	10	0.28530	T	0.3	-29.643	8.3461	0.32275	0.0:0.887:0.0:0.113	.	49	Q86TG1	T150A_HUMAN	P	49	ENSP00000334708:A49P;ENSP00000387292:A49P	ENSP00000334708:A49P	A	-	1	0	TMEM150A	85681710	0.000000	0.05858	0.991000	0.47740	0.998000	0.95712	-0.925000	0.03992	1.072000	0.40860	0.655000	0.94253	GCT		0.642	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329474.1	NM_153342	
BAZ2B	29994	broad.mit.edu	37	2	160241783	160241783	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:160241783T>C	ENST00000392783.2	-	23	4064	c.3569A>G	c.(3568-3570)cAa>cGa	p.Q1190R	BAZ2B_ENST00000392782.1_Missense_Mutation_p.Q1154R|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000355831.2_Missense_Mutation_p.Q1156R|BAZ2B_ENST00000343439.5_Missense_Mutation_p.Q1090R	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AAGCTCAGTTTGTCCACAGTG	0.438																																						uc002uao.2																			0				ovary(3)|skin(1)	4						c.(3568-3570)CAA>CGA		bromodomain adjacent to zinc finger domain, 2B							119.0	116.0	117.0					2																	160241783		1861	4102	5963	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160241783T>C	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3569A>G	2.37:g.160241783T>C	ENSP00000376534:p.Gln1190Arg					BAZ2B_uc002uap.2_Missense_Mutation_p.Q1154R	p.Q1190R	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			23	3921	-			1190					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.3569A>G	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	T	24.3	4.516159	0.85495	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.58940	0.36;0.36;0.36;0.3	5.75	5.75	0.90469	.	0.000000	0.35585	U	0.003110	T	0.54647	0.1871	N	0.21194	0.64	0.41915	D	0.990488	P;D	0.54207	0.493;0.965	B;P	0.50791	0.116;0.65	T	0.57283	-0.7838	10	0.44086	T	0.13	-6.6485	16.0539	0.80782	0.0:0.0:0.0:1.0	.	1154;1190	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	R	1154;1190;1156;1090	ENSP00000376533:Q1154R;ENSP00000376534:Q1190R;ENSP00000348087:Q1156R;ENSP00000339670:Q1090R	ENSP00000339670:Q1090R	Q	-	2	0	BAZ2B	159950029	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.186000	0.72026	2.193000	0.70182	0.533000	0.62120	CAA		0.438	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2		
ARPC2	10109	broad.mit.edu	37	2	219103491	219103492	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:219103491_219103492delTT	ENST00000295685.10	+	5	634_635	c.373_374delTT	c.(373-375)tttfs	p.F125fs	ARPC2_ENST00000477992.1_3'UTR|ARPC2_ENST00000315717.5_Frame_Shift_Del_p.F125fs	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	125					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TGCCTCTGTCTTTGAAAAATAC	0.416																																						uc002vhd.2																			0				ovary(1)	1						c.(373-375)TTTfs		actin related protein 2/3 complex subunit 2																																				SO:0001589	frameshift_variant	10109				cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	g.chr2:219103491_219103492delTT	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.373_374delTT	2.37:g.219103491_219103492delTT	ENSP00000295685:p.Phe125fs					ARPC2_uc002vhe.2_Frame_Shift_Del_p.F125fs|ARPC2_uc002vhf.2_Frame_Shift_Del_p.F11fs	p.F125fs	NM_152862	NP_690601	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	6	485_486	+		Renal(207;0.0474)	125					Q92801|Q9P1D4	Frame_Shift_Del	DEL	ENST00000295685.10	37	c.373_374delTT	CCDS2410.1																																																																																				0.416	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731	
UGT1A5	54579	broad.mit.edu	37	2	234621782	234621782	+	Missense_Mutation	SNP	C	C	T	rs41270755	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:234621782C>T	ENST00000373414.3	+	1	145	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	UGT1A1_ENST00000608381.1_Missense_Mutation_p.R49W|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000373424.1_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	49						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GGAGGCCTTGCGGGACCTCCA	0.582													C|||	5	0.000998403	0.0	0.0029	5008	,	,		19566	0.0		0.003	False		,,,				2504	0.0					uc002vuw.2																			0				skin(1)	1						c.(145-147)CGG>TGG		UDP glycosyltransferase 1 family, polypeptide A5		C	,,,,TRP/ARG,,	1,4405	2.1+/-5.4	0,1,2202	56.0	51.0	53.0		,,,,145,,	-0.9	0.0	2	dbSNP_127	53	20,8580	14.6+/-50.1	1,18,4281	no	intron,intron,intron,intron,missense,intron,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9	NM_001072.3,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_021027.2,NM_205862.1	,,,,101,,	1,19,6483	TT,TC,CC		0.2326,0.0227,0.1615	,,,,,,	,,,,49/535,,	234621782	21,12985	2203	4300	6503	SO:0001583	missense	54579				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr2:234621782C>T	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.145C>T	2.37:g.234621782C>T	ENSP00000362513:p.Arg49Trp					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Missense_Mutation_p.R49W	p.R49W	NM_019078	NP_061951	P35504	UD15_HUMAN		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	1	145	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	49					B8K294	Missense_Mutation	SNP	ENST00000373414.3	37	c.145C>T	CCDS33404.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.59	2.580055	0.46006	2.27E-4	0.002326	ENSG00000240224	ENST00000373414	T	0.63913	-0.07	4.83	-0.894	0.10563	.	0.976806	0.08437	N	0.946077	T	0.70237	0.3201	M	0.64997	1.995	0.09310	N	1	D;D	0.64830	0.994;0.994	P;P	0.58077	0.832;0.832	T	0.62158	-0.6913	10	0.87932	D	0	.	9.8644	0.41134	0.5246:0.1857:0.2897:0.0	rs41270755	49;49	Q5DSZ9;P35504	.;UD15_HUMAN	W	49	ENSP00000362513:R49W	ENSP00000362513:R49W	R	+	1	2	UGT1A5	234286521	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.010000	0.03656	-0.571000	0.06014	-0.330000	0.08379	CGG		0.582	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078	
RSPO4	343637	broad.mit.edu	37	20	944738	944738	+	Silent	SNP	G	G	A	rs201319898		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr20:944738G>A	ENST00000217260.4	-	4	531	c.435C>T	c.(433-435)ggC>ggT	p.G145G	RSPO4_ENST00000400634.2_Intron	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	145	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)	p.G145G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGCTCCAGCCGCCCCAGGGAC	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15513	0.0		0.0	False		,,,				2504	0.0					uc002wej.2																			1	Substitution - coding silent(1)		endometrium(1)		0						c.(433-435)GGC>GGT		R-spondin family, member 4 isoform 1 precursor							15.0	18.0	17.0					20																	944738		1898	4104	6002	SO:0001819	synonymous_variant	343637				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr20:944738G>A	AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"""Endogenous ligands"""	16175	protein-coding gene	gene with protein product		610573	"""chromosome 20 open reading frame 182"", ""R-spondin family, member 4"""	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.435C>T	20.37:g.944738G>A						RSPO4_uc002wek.2_Intron	p.G145G	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN			4	532	-			145			TSP type-1.		A2A2I6|Q9UGB2	Silent	SNP	ENST00000217260.4	37	c.435C>T	CCDS42846.1																																																																																				0.652	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077492.3	XM_297816	
FAM83C	128876	broad.mit.edu	37	20	33880014	33880014	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr20:33880014G>A	ENST00000374408.3	-	1	190	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	32										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GAGCTCTCCCGCCACCACGGC	0.746																																						uc010zux.1																			0				ovary(2)	2						c.(94-96)CGG>TGG		hypothetical protein LOC128876							7.0	8.0	8.0					20																	33880014		1737	3517	5254	SO:0001583	missense	128876							g.chr20:33880014G>A	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.94C>T	20.37:g.33880014G>A	ENSP00000363529:p.Arg32Trp					FAM83C_uc002xcb.1_5'UTR	p.R32W	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		1	212	-			32					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.94C>T	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950780	0.73787	.	.	ENSG00000125998	ENST00000374408	T	0.11712	2.75	5.09	2.94	0.34122	.	0.129252	0.33253	N	0.005114	T	0.26195	0.0639	L	0.55990	1.75	0.53005	D	0.999969	D	0.89917	1.0	D	0.91635	0.999	T	0.01889	-1.1253	10	0.87932	D	0	-13.6314	12.3306	0.55038	0.0:0.0:0.557:0.443	.	32	Q9BQN1	FA83C_HUMAN	W	32	ENSP00000363529:R32W	ENSP00000363529:R32W	R	-	1	2	FAM83C	33343428	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.403000	0.34612	1.224000	0.43551	0.462000	0.41574	CGG		0.746	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3		
HNF4A	3172	broad.mit.edu	37	20	43052742	43052742	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr20:43052742G>A	ENST00000316099.4	+	8	1066	c.977G>A	c.(976-978)cGc>cAc	p.R326H	HNF4A_ENST00000457232.1_Missense_Mutation_p.R304H|HNF4A_ENST00000443598.2_Missense_Mutation_p.R326H|HNF4A_ENST00000609795.1_Missense_Mutation_p.R304H|HNF4A_ENST00000316673.4_Missense_Mutation_p.R304H|HNF4A_ENST00000415691.2_Missense_Mutation_p.R326H|AL132772.1_ENST00000581483.1_RNA	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	326					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ATCAACGACCGCCAGTATGAC	0.582																																					Colon(79;2 1269 8820 14841 52347)	uc002xma.2																			0				ovary(1)|lung(1)|skin(1)	3						c.(976-978)CGC>CAC		hepatocyte nuclear factor 4 alpha isoform b							35.0	25.0	29.0					20																	43052742		2203	4295	6498	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43052742G>A	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.977G>A	20.37:g.43052742G>A	ENSP00000312987:p.Arg326His					HNF4A_uc002xlt.2_Missense_Mutation_p.R304H|HNF4A_uc002xlu.2_Missense_Mutation_p.R304H|HNF4A_uc002xlv.2_Missense_Mutation_p.R304H|HNF4A_uc002xly.2_Missense_Mutation_p.R326H|HNF4A_uc002xlz.2_Missense_Mutation_p.R326H|HNF4A_uc010ggq.2_Missense_Mutation_p.R319H	p.R326H	NM_000457	NP_000448	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		8	1066	+		Myeloproliferative disorder(115;0.0122)	326					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.977G>A	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317030	0.81469	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98;-3.98	5.16	5.16	0.70880	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.406531	0.27289	N	0.020059	D	0.94528	0.8238	L	0.38838	1.175	0.80722	D	1	P;P;P;P;P;P;B	0.52842	0.956;0.684;0.83;0.946;0.956;0.946;0.15	P;B;B;B;P;B;B	0.45195	0.473;0.219;0.206;0.394;0.473;0.341;0.09	D	0.94754	0.7930	10	0.51188	T	0.08	.	18.6369	0.91382	0.0:0.0:1.0:0.0	.	319;326;326;326;304;304;304	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	H	304;304;326;326;356;326	ENSP00000315180:R304H;ENSP00000396216:R304H;ENSP00000312987:R326H;ENSP00000410911:R326H;ENSP00000412111:R326H	ENSP00000312987:R326H	R	+	2	0	HNF4A	42486156	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.869000	0.99810	2.398000	0.81561	0.563000	0.77884	CGC		0.582	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3		
SEMG1	6406	broad.mit.edu	37	20	43837052	43837052	+	Missense_Mutation	SNP	C	C	T	rs199672858	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr20:43837052C>T	ENST00000372781.3	+	2	1171	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C	SEMG1_ENST00000244069.6_Missense_Mutation_p.R312C	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	372	2 X 60 AA tandem repeats, type 1.|Repeat-rich region. {ECO:0000250}.		R -> L (in dbSNP:rs2233887). {ECO:0000269|PubMed:14629036}.		insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTATCCCAACGCAGTATTTA	0.418													A|||	2	0.000399361	0.0008	0.0	5008	,	,		22478	0.0		0.001	False		,,,				2504	0.0					uc002xni.2																			0				skin(2)	2						c.(1114-1116)CGC>TGC		semenogelin I preproprotein							77.0	71.0	73.0					20																	43837052		2203	4300	6503	SO:0001583	missense	6406				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43837052C>T		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.1114C>T	20.37:g.43837052C>T	ENSP00000361867:p.Arg372Cys					SEMG1_uc002xnj.2_Missense_Mutation_p.R312C|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Intron	p.R372C	NM_003007	NP_002998	P04279	SEMG1_HUMAN			2	1171	+		Myeloproliferative disorder(115;0.0122)	372			58 AA repeat 2.		Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	c.1114C>T	CCDS13345.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	11.44	1.640642	0.29157	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.06528	3.29;3.29	0.951	-1.9	0.07665	.	.	.	.	.	T	0.02455	0.0075	N	0.08118	0	0.09310	N	1	B;B	0.27498	0.18;0.109	B;B	0.15052	0.01;0.012	T	0.39603	-0.9606	9	0.72032	D	0.01	.	0.297	0.00267	0.2228:0.2395:0.2981:0.2396	.	312;372	P04279-2;P04279	.;SEMG1_HUMAN	C	312;372	ENSP00000244069:R312C;ENSP00000361867:R372C	ENSP00000244069:R312C	R	+	1	0	SEMG1	43270466	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.965000	0.03829	-2.064000	0.00888	-1.625000	0.00788	CGC		0.418	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007	
CBR1	873	broad.mit.edu	37	21	37442646	37442646	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr21:37442646G>A	ENST00000290349.6	+	1	408	c.233G>A	c.(232-234)cGc>cAc	p.R78H	CBR1_ENST00000530908.1_Missense_Mutation_p.R78H|SETD4_ENST00000399201.1_Intron|CBR1_ENST00000439427.2_Missense_Mutation_p.R78H|CBR1_ENST00000466328.2_3'UTR|AP000688.14_ENST00000535199.1_RNA|CBR1_ENST00000399191.3_Missense_Mutation_p.R78H	NM_001757.2	NP_001748.1	P16152	CBR1_HUMAN	carbonyl reductase 1	78					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|drug metabolic process (GO:0017144)|epithelial cell differentiation (GO:0030855)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin K metabolic process (GO:0042373)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	15-hydroxyprostaglandin dehydrogenase (NADP+) activity (GO:0047021)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|prostaglandin-E2 9-reductase activity (GO:0050221)			endometrium(2)|kidney(3)	5					Doxorubicin(DB00997)|Haloperidol(DB00502)|Lubiprostone(DB01046)|Tetrabenazine(DB04844)	GACTTCCTGCGCAAGGAGTAC	0.672																																						uc002yvb.1																			0					0						c.(232-234)CGC>CAC		carbonyl reductase 1	Acetohexamide(DB00414)|Lubiprostone(DB01046)						33.0	30.0	31.0					21																	37442646		2192	4277	6469	SO:0001583	missense	873				drug metabolic process|vitamin K metabolic process	cytoplasm	15-hydroxyprostaglandin dehydrogenase (NADP+) activity|carbonyl reductase (NADPH) activity|prostaglandin-E2 9-reductase activity|protein binding	g.chr21:37442646G>A		CCDS13641.1, CCDS68202.1	21q22.1	2011-09-14			ENSG00000159228	ENSG00000159228	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1548	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 1"""	114830		CBR		8432528, 19027726	Standard	NM_001757		Approved	SDR21C1	uc002yvb.1	P16152	OTTHUMG00000086618	ENST00000290349.6:c.233G>A	21.37:g.37442646G>A	ENSP00000290349:p.Arg78His					uc011aea.1_RNA|SETD4_uc002yva.2_Intron|CBR1_uc010gmx.1_Missense_Mutation_p.R78H|CBR1_uc010gmy.1_Missense_Mutation_p.R78H	p.R78H	NM_001757	NP_001748	P16152	CBR1_HUMAN			1	362	+			78					B2RBZ7|B4DFK7|Q3LHW8	Missense_Mutation	SNP	ENST00000290349.6	37	c.233G>A	CCDS13641.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003067	0.74932	.	.	ENSG00000159228	ENST00000530908;ENST00000290349;ENST00000439427;ENST00000399191	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	5.41	-2.61	0.06171	NAD(P)-binding domain (1);	0.716218	0.14052	N	0.344659	D	0.83982	0.5372	N	0.16903	0.455	0.09310	N	1	D;D;B	0.71674	0.998;0.995;0.011	P;P;B	0.61070	0.776;0.883;0.01	T	0.74447	-0.3662	10	0.62326	D	0.03	.	4.5944	0.12322	0.2945:0.0:0.2481:0.4574	.	78;78;78	B4DFK7;E9PQ63;P16152	.;.;CBR1_HUMAN	H	78	ENSP00000434613:R78H;ENSP00000290349:R78H;ENSP00000395132:R78H;ENSP00000382143:R78H	ENSP00000290349:R78H	R	+	2	0	CBR1	36364516	0.007000	0.16637	0.016000	0.15963	0.945000	0.59286	0.419000	0.21247	-0.398000	0.07679	-1.367000	0.01198	CGC		0.672	CBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194633.2		
RIPK4	54101	broad.mit.edu	37	21	43161157	43161157	+	Silent	SNP	G	G	A	rs372475043		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr21:43161157G>A	ENST00000352483.2	-	9	2404	c.2340C>T	c.(2338-2340)gaC>gaT	p.D780D	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000542057.1_Silent_p.D669D|RIPK4_ENST00000332512.3_Silent_p.D732D|RIPK4_ENST00000544709.1_Silent_p.D669D			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	780					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCCCTGCTCGTCGAACAGGT	0.692																																						uc002yzn.1																			0				ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(2194-2196)GAC>GAT		ankyrin repeat domain 3		G		0,4406		0,0,2203	59.0	60.0	60.0		2196	-5.6	0.0	21		60	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	RIPK4	NM_020639.2		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		732/785	43161157	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161157G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2340C>T	21.37:g.43161157G>A							p.D732D	NM_020639	NP_065690	P57078	RIPK4_HUMAN			8	2244	-			732					Q96KH0	Silent	SNP	ENST00000352483.2	37	c.2196C>T																																																																																					0.692	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639	
C21orf58	54058	broad.mit.edu	37	21	47738114	47738114	+	Missense_Mutation	SNP	C	C	A	rs200456158		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr21:47738114C>A	ENST00000291691.7	-	2	1257	c.121G>T	c.(121-123)Gcc>Tcc	p.A41S	C21orf58_ENST00000397683.1_5'UTR|C21orf58_ENST00000397685.4_5'UTR|C21orf58_ENST00000397680.1_5'UTR|C21orf58_ENST00000397682.3_5'UTR|C21orf58_ENST00000397679.1_5'UTR	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	41										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		GCAGGGCGGGCCTTACCTCCT	0.652																																						uc002zjf.2																			0				pancreas(1)	1						c.(121-123)GCC>TCC		hypothetical protein LOC54058		C	SER/ALA	0,4406		0,0,2203	52.0	54.0	53.0		121	0.9	0.0	21		53	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C21orf58	NM_058180.3	99	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign	41/323	47738114	1,13005	2203	4300	6503	SO:0001583	missense	54058							g.chr21:47738114C>A		CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.121G>T	21.37:g.47738114C>A	ENSP00000291691:p.Ala41Ser					C21orf58_uc002ziz.2_5'UTR|C21orf58_uc002zja.2_5'UTR|C21orf58_uc011afw.1_5'UTR|C21orf58_uc002zjc.2_5'UTR|C21orf58_uc011afx.1_5'UTR|C21orf58_uc010gqj.1_RNA|C21orf58_uc002zjg.1_RNA	p.A41S	NM_058180	NP_478060	P58505	CU058_HUMAN		Colorectal(79;0.239)	3	1255	-	Breast(49;0.112)		41					B3KPI1	Missense_Mutation	SNP	ENST00000291691.7	37	c.121G>T	CCDS13735.1	.	.	.	.	.	.	.	.	.	.	C	1.656	-0.512743	0.04200	0.0	1.16E-4	ENSG00000160298	ENST00000417060;ENST00000291691	T;T	0.51325	0.77;0.71	2.85	0.888	0.19206	.	.	.	.	.	T	0.32971	0.0847	N	0.22421	0.69	0.19575	N	0.999963	B	0.15473	0.013	B	0.17098	0.017	T	0.30794	-0.9966	9	0.87932	D	0	.	9.0287	0.36245	0.0:0.5224:0.4776:0.0	.	41	P58505	CU058_HUMAN	S	3;41	ENSP00000402356:A3S;ENSP00000291691:A41S	ENSP00000291691:A41S	A	-	1	0	C21orf58	46562542	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.150000	0.10189	0.066000	0.16515	0.460000	0.39030	GCC		0.652	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207283.1	NM_058180	
DIP2A	23181	broad.mit.edu	37	21	47954567	47954567	+	Missense_Mutation	SNP	C	C	T	rs201190474		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr21:47954567C>T	ENST00000417564.2	+	13	1630	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W	Metazoa_SRP_ENST00000607098.1_RNA|DIP2A_ENST00000427143.2_Missense_Mutation_p.R473W|DIP2A_ENST00000457905.3_Missense_Mutation_p.R537W|DIP2A_ENST00000318711.7_Missense_Mutation_p.R538W|DIP2A_ENST00000435722.3_Missense_Mutation_p.R537W|DIP2A_ENST00000400274.1_Missense_Mutation_p.R533W|DIP2A_ENST00000466639.1_Missense_Mutation_p.R494W			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	537					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGCACAGTGCCGGGCTCTGAC	0.562																																						uc002zjo.2																			0				ovary(2)	2						c.(1609-1611)CGG>TGG		disco-interacting protein 2A isoform a		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	2,3830		0,2,1914	33.0	35.0	35.0		1417,1480,1597,1609,1609,1609,1609	4.6	1.0	21		35	7,8241		0,7,4117	yes	missense,missense,missense,missense,missense,missense,missense	DIP2A	NM_001146114.1,NM_001146115.1,NM_001146116.1,NM_015151.3,NM_206889.2,NM_206890.2,NM_206891.2	101,101,101,101,101,101,101	0,9,6031	TT,TC,CC		0.0849,0.0522,0.0745	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	473/1111,494/799,533/1568,537/1572,537/890,537/842,537/813	47954567	9,12071	1916	4124	6040	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47954567C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.1609C>T	21.37:g.47954567C>T	ENSP00000392066:p.Arg537Trp					DIP2A_uc011afy.1_Missense_Mutation_p.R473W|DIP2A_uc011afz.1_Missense_Mutation_p.R533W|DIP2A_uc002zjl.2_Missense_Mutation_p.R537W|DIP2A_uc002zjm.2_Missense_Mutation_p.R537W|DIP2A_uc010gql.2_Missense_Mutation_p.R494W|DIP2A_uc002zjn.2_Missense_Mutation_p.R537W|DIP2A_uc002zjp.1_Missense_Mutation_p.R282W	p.R537W	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	13	1792	+	Breast(49;0.0933)		537					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.1609C>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917845	0.73098	5.22E-4	8.49E-4	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.43688	0.94;2.78;0.94;2.78;2.78;2.78;0.94	4.62	4.62	0.57501	AMP-dependent synthetase/ligase (1);	0.421766	0.23373	N	0.048891	T	0.59878	0.2226	M	0.83223	2.63	0.39777	D	0.97224	B;B;D;B;B;B	0.65815	0.002;0.077;0.995;0.0;0.029;0.039	B;B;P;B;B;B	0.52710	0.005;0.052;0.707;0.003;0.031;0.025	T	0.69580	-0.5107	10	0.59425	D	0.04	-6.5405	16.61	0.84880	0.0:1.0:0.0:0.0	.	538;473;494;537;537;537	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	W	533;473;538;494;537;494;537;537	ENSP00000383133:R533W;ENSP00000400528:R473W;ENSP00000323633:R538W;ENSP00000393434:R537W;ENSP00000430249:R494W;ENSP00000415089:R537W;ENSP00000392066:R537W	ENSP00000323633:R538W	R	+	1	2	DIP2A	46778995	0.998000	0.40836	0.997000	0.53966	0.937000	0.57800	4.661000	0.61518	2.380000	0.81148	0.591000	0.81541	CGG		0.562	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151	
Unknown	0	broad.mit.edu	37	22	25713968	25713968	+	IGR	SNP	C	C	T	rs368049201		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr22:25713968C>T								RP3-462D8.2 (35710 upstream) : LRP5L (33419 downstream)																							CTCAGCCACACGGCACAGCTG	0.592																																						uc003abr.2																			0					0						c.(-21--17)CACGG>CATGG		immunoglobulin lambda-like polypeptide 3		C		0,4228		0,0,2114	6.0	6.0	6.0			-1.6	0.0	22		6	2,8360		0,2,4179	no	intergenic				0,2,6293	TT,TC,CC		0.0239,0.0,0.0159			25713968	2,12588	2114	4181	6295	SO:0001628	intergenic_variant	91353							g.chr22:25713968C>T																													22.37:g.25713968C>T								NM_001013618	NP_001013640					1	81	+									Translation_Start_Site	SNP		37	c.-19C>T																																																																																				0	0.592								
WDR82	80335	broad.mit.edu	37	3	52304745	52304745	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr3:52304745C>G	ENST00000296490.3	-	2	523	c.242G>C	c.(241-243)aGc>aCc	p.S81T	MIRLET7G_ENST00000362280.1_RNA	NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	81					histone H3-K4 methylation (GO:0051568)	chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TTTGTTAGAGCTGTAAACAAC	0.378																																						uc003ddl.2																			0					0						c.(241-243)AGC>ACC		WD repeat domain 82							235.0	211.0	219.0					3																	52304745		1866	4106	5972	SO:0001583	missense	80335				histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding	g.chr3:52304745C>G	AF132207	CCDS2851.2	3p21.2	2013-01-10	2007-07-04	2007-07-04	ENSG00000164091	ENSG00000164091		"""WD repeat domain containing"""	28826	protein-coding gene	gene with protein product		611059	"""transmembrane protein 113"""	TMEM113		17355966	Standard	NM_025222		Approved	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2	uc003ddl.2	Q6UXN9	OTTHUMG00000150391	ENST00000296490.3:c.242G>C	3.37:g.52304745C>G	ENSP00000296490:p.Ser81Thr					WDR82_uc003ddk.2_5'Flank|uc011bee.1_5'Flank|MIRLET7G_hsa-let-7g|MI0000433_5'Flank	p.S81T	NM_025222	NP_079498	Q6UXN9	WDR82_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)	2	524	-			81					A8K5R5|Q8TEB2	Missense_Mutation	SNP	ENST00000296490.3	37	c.242G>C	CCDS2851.2	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511435	0.64522	.	.	ENSG00000164091	ENST00000296490	T	0.18960	2.18	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.30355	0.0762	M	0.71871	2.18	0.80722	D	1	B	0.19706	0.038	B	0.21151	0.033	T	0.03717	-1.1010	10	0.41790	T	0.15	-27.8536	19.9661	0.97271	0.0:1.0:0.0:0.0	.	81	Q6UXN9	WDR82_HUMAN	T	81	ENSP00000296490:S81T	ENSP00000296490:S81T	S	-	2	0	WDR82	52279785	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.740000	0.84986	2.719000	0.93026	0.650000	0.86243	AGC		0.378	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317919.1	NM_025222	
DNAH12	201625	broad.mit.edu	37	3	57493505	57493505	+	Silent	SNP	G	G	A	rs376621969		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr3:57493505G>A	ENST00000351747.2	-	8	942	c.762C>T	c.(760-762)aaC>aaT	p.N254N	DNAH12_ENST00000311202.6_Silent_p.N254N|DNAH12_ENST00000389536.4_Silent_p.N254N	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	254	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TCTCTTCTGCGTTTCTAGTTT	0.333													G|||	1	0.000199681	0.0	0.0	5008	,	,		16852	0.0		0.0	False		,,,				2504	0.001					uc003dit.2																			0				pancreas(1)|skin(1)	2						c.(760-762)AAC>AAT		dynein heavy chain domain 2 isoform 1		G	,	1,4405	2.1+/-5.4	0,1,2202	159.0	150.0	153.0		762,762	-3.7	0.8	3		153	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DNAH12	NM_178504.4,NM_198564.3	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	254/3093,254/458	57493505	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57493505G>A	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.762C>T	3.37:g.57493505G>A						DNAH12_uc003diu.2_Silent_p.N254N	p.N254N	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN			8	943	-			254			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	ENST00000351747.2	37	c.762C>T																																																																																					0.333	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504	
EFCAB12	90288	broad.mit.edu	37	3	129130070	129130070	+	Silent	SNP	C	C	T	rs117403753	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr3:129130070C>T	ENST00000505956.1	-	5	1128	c.966G>A	c.(964-966)acG>acA	p.T322T	EFCAB12_ENST00000326085.3_Silent_p.T322T	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	322							calcium ion binding (GO:0005509)										TCATGGGCCGCGTCTCCATCT	0.637													C|||	30	0.00599042	0.0008	0.0	5008	,	,		19523	0.0169		0.002	False		,,,				2504	0.0102					uc003emg.2																			0											c.(964-966)ACG>ACA		hypothetical protein LOC90288		C		2,4302		0,2,2150	37.0	42.0	40.0		966	-8.5	0.0	3	dbSNP_132	40	13,8445		0,13,4216	no	coding-synonymous	C3orf25	NM_207307.1		0,15,6366	TT,TC,CC		0.1537,0.0465,0.1175		322/573	129130070	15,12747	2152	4229	6381	SO:0001819	synonymous_variant	0							g.chr3:129130070C>T	AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.966G>A	3.37:g.129130070C>T							p.T322T	NM_207307	NP_997190					5	1129	-								Q69YX4	Silent	SNP	ENST00000505956.1	37	c.966G>A	CCDS54638.1																																																																																				0.637	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355530.1	NM_207307	
AADACL2	344752	broad.mit.edu	37	3	151475339	151475339	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr3:151475339G>A	ENST00000356517.3	+	5	1272	c.1163G>A	c.(1162-1164)aGg>aAg	p.R388K	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	388						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTAGGTCTTAGGATAAGAGAT	0.328																																						uc003ezc.2																			0					0						c.(1162-1164)AGG>AAG		arylacetamide deacetylase-like 2 precursor							77.0	82.0	80.0					3																	151475339		2203	4297	6500	SO:0001583	missense	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151475339G>A	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.1163G>A	3.37:g.151475339G>A	ENSP00000348911:p.Arg388Lys					AADACL2_uc010hvn.2_Missense_Mutation_p.R175K	p.R388K	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	1283	+			388					Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	c.1163G>A	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331658	0.60853	.	.	ENSG00000197953	ENST00000356517	T	0.58060	0.36	5.01	3.09	0.35607	.	0.242953	0.44483	N	0.000449	T	0.35566	0.0936	L	0.31476	0.935	0.22081	N	0.999379	B	0.31009	0.303	B	0.28011	0.085	T	0.17715	-1.0360	10	0.34782	T	0.22	-23.0164	8.2723	0.31851	0.2657:0.0:0.7343:0.0	.	388	Q6P093	ADCL2_HUMAN	K	388	ENSP00000348911:R388K	ENSP00000348911:R388K	R	+	2	0	AADACL2	152958029	0.892000	0.30473	0.010000	0.14722	0.825000	0.46686	2.110000	0.41873	1.263000	0.44181	0.591000	0.81541	AGG		0.328	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365	
PIK3CA	5290	broad.mit.edu	37	3	178952152	178952152	+	Nonstop_Mutation	SNP	A	A	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr3:178952152A>G	ENST00000263967.3	+	21	3364	c.3207A>G	c.(3205-3207)tgA>tgG	p.*1069W	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	0					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.*1069_*1069insWKDN*(3)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CATTGAACTGAAAAGATAACT	0.393		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		3	Insertion - In frame(3)	p.*1069_*1069insWKDN*(3)|p.*1069fs*3(1)	endometrium(2)|ovary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(3205-3207)TGA>TGG		phosphoinositide-3-kinase, catalytic, alpha							79.0	71.0	74.0					3																	178952152		1897	4138	6035	SO:0001578	stop_lost	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952152A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3207A>G	3.37:g.178952152A>G	ENSP00000263967:p.*1069Trpext*4	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.*1069W	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3364	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1069					Q14CW1|Q99762	Nonstop_Mutation	SNP	ENST00000263967.3	37	c.3207A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.351538	0.41700	.	.	ENSG00000121879	ENST00000263967	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.20563	N	0.999881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3945	0.83586	1.0:0.0:0.0:0.0	.	.	.	.	W	1069	.	.	X	+	3	0	PIK3CA	180434846	1.000000	0.71417	0.971000	0.41717	0.917000	0.54804	8.526000	0.90588	2.265000	0.75225	0.482000	0.46254	TGA		0.393	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
GABRG1	2565	broad.mit.edu	37	4	46043099	46043099	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:46043099C>T	ENST00000295452.4	-	9	1471	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	435					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTGGCAATGCGTATGTGTAT	0.403																																						uc003gxb.2																			0				ovary(2)	2						c.(1303-1305)CGC>CAC		gamma-aminobutyric acid A receptor, gamma 1							130.0	131.0	130.0					4																	46043099		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46043099C>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1304G>A	4.37:g.46043099C>T	ENSP00000295452:p.Arg435His						p.R435H	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	9	1456	-			435			Cytoplasmic (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.1304G>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	9.877	1.200494	0.22121	.	.	ENSG00000163285	ENST00000295452	D	0.83755	-1.76	5.49	5.49	0.81192	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.117464	0.64402	D	0.000011	T	0.73984	0.3657	N	0.17631	0.505	0.47276	D	0.999373	B	0.24317	0.101	B	0.18263	0.021	T	0.69057	-0.5246	10	0.37606	T	0.19	.	18.356	0.90357	0.0:1.0:0.0:0.0	.	435	Q8N1C3	GBRG1_HUMAN	H	435	ENSP00000295452:R435H	ENSP00000295452:R435H	R	-	2	0	GABRG1	45737856	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	3.822000	0.55708	2.580000	0.87095	0.585000	0.79938	CGC		0.403	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	
FRYL	285527	broad.mit.edu	37	4	48536560	48536560	+	Splice_Site	SNP	A	A	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:48536560A>C	ENST00000503238.1	-	46	6705		c.e46+1		FRYL_ENST00000507873.2_Splice_Site|FRYL_ENST00000537810.1_Splice_Site|FRYL_ENST00000264319.7_Splice_Site|FRYL_ENST00000358350.4_Splice_Site			O94915	FRYL_HUMAN	FRY-like						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						gtggtcacTCACCTGTACATA	0.343																																						uc003gyh.1																			0				skin(1)	1						c.e49+1		furry-like							79.0	72.0	74.0					4																	48536560		1833	4096	5929	SO:0001630	splice_region_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48536560A>C	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.6705+1T>G	4.37:g.48536560A>C						FRYL_uc003gyg.1_Splice_Site_p.Q931_splice|FRYL_uc003gyi.1_Splice_Site_p.Q1123_splice|FRYL_uc003gyj.1_Splice_Site_p.Q530_splice	p.Q2235_splice	NM_015030	NP_055845	O94915	FRYL_HUMAN			49	7310	-								O95640|Q8WTZ5|Q9NT40	Splice_Site	SNP	ENST00000503238.1	37	c.6705_splice	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	A	16.56	3.156337	0.57259	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000514617	.	.	.	5.67	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1288	0.53932	0.8714:0.0:0.0:0.1286	.	.	.	.	.	-1	.	.	.	-	.	.	FRYL	48231317	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	9.297000	0.96120	0.964000	0.38108	0.528000	0.53228	.		0.343	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		Intron
UGT2B28	54490	broad.mit.edu	37	4	70160487	70160487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:70160487G>A	ENST00000335568.5	+	6	1552	c.1550G>A	c.(1549-1551)tGg>tAg	p.W517*	UGT2B28_ENST00000511240.1_3'UTR	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	517					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						TTTTGTTTCTGGAAGTTTGCT	0.413																																						uc003hej.2																			0				skin(1)	1						c.(1549-1551)TGG>TAG		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)						112.0	123.0	120.0					4																	70160487		2028	4232	6260	SO:0001587	stop_gained	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70160487G>A	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1550G>A	4.37:g.70160487G>A	ENSP00000334276:p.Trp517*					UGT2B28_uc010ihr.2_3'UTR	p.W517*	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			6	1552	+			517			Helical; (Potential).		B5BUM0|Q9BY62|Q9BY63	Nonsense_Mutation	SNP	ENST00000335568.5	37	c.1550G>A	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	11.38	1.622098	0.28889	.	.	ENSG00000135226	ENST00000335568	.	.	.	1.85	-1.98	0.07480	.	0.189275	0.30658	U	0.009160	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	2.5534	0.04754	0.4673:0.0:0.3099:0.2228	.	.	.	.	X	517	.	ENSP00000334276:W517X	W	+	2	0	UGT2B28	70195076	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.014000	0.03641	-0.865000	0.04073	0.184000	0.17185	TGG		0.413	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039	
ANKRD17	26057	broad.mit.edu	37	4	73959897	73959897	+	Silent	SNP	T	T	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:73959897T>C	ENST00000358602.4	-	28	5342	c.5226A>G	c.(5224-5226)ggA>ggG	p.G1742G	ANKRD17_ENST00000509867.2_Silent_p.G1629G|ANKRD17_ENST00000330838.6_Silent_p.G1491G	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1742	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGCCTCCTCTTCCAATCACTC	0.333																																						uc003hgp.2																			0				ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(5224-5226)GGA>GGG		ankyrin repeat domain protein 17 isoform a							147.0	136.0	140.0					4																	73959897		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73959897T>C	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.5226A>G	4.37:g.73959897T>C						ANKRD17_uc003hgo.2_Silent_p.G1629G|ANKRD17_uc003hgq.2_Silent_p.G1491G|ANKRD17_uc003hgr.2_Silent_p.G1741G	p.G1742G	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		28	5343	-	Breast(15;0.000295)		1742			KH.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.5226A>G	CCDS34004.1																																																																																				0.333	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	
TRAM1L1	133022	broad.mit.edu	37	4	118005491	118005491	+	Missense_Mutation	SNP	T	T	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:118005491T>G	ENST00000310754.4	-	1	1245	c.1059A>C	c.(1057-1059)gaA>gaC	p.E353D		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	353					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TATTTGAAGTTTCCACTCCCA	0.393																																						uc003ibv.3																			0				central_nervous_system(1)	1						c.(1057-1059)GAA>GAC		translocation associated membrane protein 1-like							154.0	159.0	157.0					4																	118005491		2203	4300	6503	SO:0001583	missense	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118005491T>G	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.1059A>C	4.37:g.118005491T>G	ENSP00000309402:p.Glu353Asp						p.E353D	NM_152402	NP_689615	Q8N609	TR1L1_HUMAN			1	1246	-			353			Cytoplasmic (Potential).		Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	c.1059A>C	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	T	9.957	1.221772	0.22457	.	.	ENSG00000174599	ENST00000310754	T	0.43688	0.94	3.74	-1.38	0.09027	.	0.394016	0.24217	U	0.040464	T	0.15869	0.0382	N	0.08118	0	0.09310	N	1	B	0.26845	0.161	B	0.25987	0.065	T	0.21827	-1.0234	10	0.15499	T	0.54	-13.609	4.9209	0.13869	0.0:0.4262:0.1861:0.3877	.	353	Q8N609	TR1L1_HUMAN	D	353	ENSP00000309402:E353D	ENSP00000309402:E353D	E	-	3	2	TRAM1L1	118224939	0.019000	0.18553	0.001000	0.08648	0.627000	0.37826	-0.452000	0.06787	-0.233000	0.09797	0.528000	0.53228	GAA		0.393	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402	
TKTL2	84076	broad.mit.edu	37	4	164394680	164394680	+	Silent	SNP	G	G	A	rs114941835		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:164394680G>A	ENST00000280605.3	-	1	367	c.207C>T	c.(205-207)aaC>aaT	p.N69N		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	69						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.N69K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGAACCGGTCGTTGTCCGGGT	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18604	0.0		0.001	False		,,,				2504	0.0					uc003iqp.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(205-207)AAC>AAT		transketolase-like 2							168.0	115.0	133.0					4																	164394680		2203	4300	6503	SO:0001819	synonymous_variant	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394680G>A	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.207C>T	4.37:g.164394680G>A							p.N69N	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	368	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	69					A4FVB4|Q8NCT0|Q96M82	Silent	SNP	ENST00000280605.3	37	c.207C>T	CCDS3805.1																																																																																				0.557	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136	
IRX2	153572	broad.mit.edu	37	5	2749815	2749815	+	Silent	SNP	G	G	A	rs138413279	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:2749815G>A	ENST00000382611.6	-	2	584	c.336C>T	c.(334-336)ctC>ctT	p.L112L	IRX2_ENST00000302057.5_Silent_p.L112L|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000397835.4_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000505778.1_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	112					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGGGGTCGTTGAGCTGGTACG	0.682																																						uc003jda.2																			0				skin(1)	1						c.(334-336)CTC>CTT		iroquois homeobox 2							99.0	84.0	89.0					5																	2749815		2203	4300	6503	SO:0001819	synonymous_variant	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749815G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.336C>T	5.37:g.2749815G>A						C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Silent_p.L112L	p.L112L	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	2	578	-			112			Homeobox; TALE-type.		Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	c.336C>T	CCDS3868.1																																																																																				0.682	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2		
UGT3A2	167127	broad.mit.edu	37	5	36036029	36036029	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:36036029G>A	ENST00000282507.3	-	7	1444	c.1343C>T	c.(1342-1344)cCg>cTg	p.P448L	UGT3A2_ENST00000513300.1_Missense_Mutation_p.P414L|UGT3A2_ENST00000545528.1_Missense_Mutation_p.P146L	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	448					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGGGCTGAGCGGGTGGGAGCG	0.597																																						uc003jjz.1																			0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(1342-1344)CCG>CTG		UDP glycosyltransferase 3 family, polypeptide A2							27.0	29.0	28.0					5																	36036029		2202	4299	6501	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36036029G>A		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1343C>T	5.37:g.36036029G>A	ENSP00000282507:p.Pro448Leu					UGT3A2_uc011cos.1_Missense_Mutation_p.P414L|UGT3A2_uc011cot.1_Missense_Mutation_p.P146L	p.P448L	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1436	-	all_lung(31;0.000179)		448			Extracellular (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.1343C>T	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199577	0.38806	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.76060	-0.99;-0.99;-0.99	2.74	2.74	0.32292	.	0.000000	0.64402	U	0.000006	D	0.87700	0.6243	M	0.91717	3.235	0.58432	D	0.999998	D;D	0.89917	0.998;1.0	P;D	0.97110	0.846;1.0	D	0.90507	0.4478	10	0.87932	D	0	.	13.2976	0.60307	0.0:0.0:1.0:0.0	.	414;448	E9PFK7;Q3SY77	.;UD3A2_HUMAN	L	448;414;146	ENSP00000282507:P448L;ENSP00000427404:P414L;ENSP00000445367:P146L	ENSP00000282507:P448L	P	-	2	0	UGT3A2	36071786	0.998000	0.40836	0.729000	0.30791	0.006000	0.05464	3.027000	0.49697	1.830000	0.53286	0.563000	0.77884	CCG		0.597	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914	
HCN1	348980	broad.mit.edu	37	5	45303809	45303809	+	Nonsense_Mutation	SNP	G	G	A	rs35229491		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:45303809G>A	ENST00000303230.4	-	6	1567	c.1510C>T	c.(1510-1512)Cga>Tga	p.R504*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	504					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R504*(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCTCCTTCTCGTATGATATAA	0.403																																						uc003jok.2																			1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)	1						c.(1510-1512)CGA>TGA		hyperpolarization activated cyclic							112.0	112.0	112.0					5																	45303809		2203	4300	6503	SO:0001587	stop_gained	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45303809G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1510C>T	5.37:g.45303809G>A	ENSP00000307342:p.Arg504*						p.R504*	NM_021072	NP_066550	O60741	HCN1_HUMAN			6	1535	-			504			cAMP.|Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000303230.4	37	c.1510C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	38	6.957446	0.97964	.	.	ENSG00000164588	ENST00000303230	.	.	.	5.62	4.73	0.59995	.	0.000000	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0052	0.80357	0.0:0.0:0.8643:0.1357	rs35229491	.	.	.	X	504	.	ENSP00000307342:R504X	R	-	1	2	HCN1	45339566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.734000	0.55037	1.467000	0.48044	0.655000	0.94253	CGA		0.403	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
P4HA2	8974	broad.mit.edu	37	5	131544873	131544873	+	Silent	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:131544873C>T	ENST00000401867.1	-	8	1429	c.861G>A	c.(859-861)agG>agA	p.R287R	P4HA2_ENST00000379104.2_Silent_p.R287R|P4HA2_ENST00000379086.1_Silent_p.R287R|P4HA2_ENST00000166534.4_Silent_p.R287R|P4HA2_ENST00000360568.3_Silent_p.R287R|P4HA2_ENST00000379100.2_Silent_p.R287R			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	287					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.R287R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CGTAAACATCCCTCTCAGGCA	0.542																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	uc003kwh.2																			1	Substitution - coding silent(1)		prostate(1)		0						c.(859-861)AGG>AGA		prolyl 4-hydroxylase, alpha II subunit isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)						201.0	196.0	198.0					5																	131544873		2203	4300	6503	SO:0001819	synonymous_variant	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131544873C>T	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.861G>A	5.37:g.131544873C>T						P4HA2_uc003kwg.2_Silent_p.R287R|P4HA2_uc003kwi.2_Silent_p.R287R|P4HA2_uc003kwk.2_Silent_p.R287R|P4HA2_uc003kwl.2_Silent_p.R287R|P4HA2_uc003kwj.2_Silent_p.R287R	p.R287R	NM_004199	NP_004190	O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	1425	-		all_cancers(142;0.103)|Breast(839;0.198)	287					D3DQ85|D3DQ86|Q8WWN0	Silent	SNP	ENST00000401867.1	37	c.861G>A	CCDS4151.1																																																																																				0.542	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199	
PCDH12	51294	broad.mit.edu	37	5	141336339	141336339	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:141336339G>C	ENST00000231484.3	-	1	2288	c.1078C>G	c.(1078-1080)Cca>Gca	p.P360A	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	360	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGTGATGGCTGGGAGGCC	0.507																																						uc003llx.2																			0				ovary(3)	3						c.(1078-1080)CCA>GCA		protocadherin 12 precursor							139.0	125.0	130.0					5																	141336339		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336339G>C	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1078C>G	5.37:g.141336339G>C	ENSP00000231484:p.Pro360Ala						p.P360A	NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2289	-		all_hematologic(541;0.0999)	360			Cadherin 4.|Extracellular (Potential).		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.1078C>G	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.347185	0.01266	.	.	ENSG00000113555	ENST00000231484	T	0.58506	0.33	5.17	-0.136	0.13473	Cadherin (1);Cadherin-like (1);	0.894418	0.09853	N	0.747272	T	0.34250	0.0891	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.18999	-1.0319	10	0.38643	T	0.18	.	0.8025	0.01077	0.2939:0.1542:0.3821:0.1699	.	360	Q9NPG4	PCD12_HUMAN	A	360	ENSP00000231484:P360A	ENSP00000231484:P360A	P	-	1	0	PCDH12	141316523	0.000000	0.05858	0.073000	0.20177	0.995000	0.86356	0.184000	0.16939	-0.218000	0.10018	0.655000	0.94253	CCA		0.507	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580	
PDE6A	5145	broad.mit.edu	37	5	149265912	149265912	+	Missense_Mutation	SNP	G	G	A	rs547792004		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:149265912G>A	ENST00000255266.5	-	14	1873	c.1754C>T	c.(1753-1755)aCg>aTg	p.T585M		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	585					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	CTCTAGGTCCGTGAAGTAGCG	0.532																																						uc003lrg.3																			0				ovary(1)|pancreas(1)	2						c.(1753-1755)ACG>ATG		phosphodiesterase 6A							137.0	114.0	122.0					5																	149265912		2203	4300	6503	SO:0001583	missense	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149265912G>A		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.1754C>T	5.37:g.149265912G>A	ENSP00000255266:p.Thr585Met						p.T585M	NM_000440	NP_000431	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		14	1874	-			585					Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	c.1754C>T	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833770	0.91036	.	.	ENSG00000132915	ENST00000255266	T	0.79845	-1.31	5.73	5.73	0.89815	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.90448	0.7009	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91362	0.5112	10	0.87932	D	0	.	17.3904	0.87428	0.0:0.0:1.0:0.0	.	585	P16499	PDE6A_HUMAN	M	585	ENSP00000255266:T585M	ENSP00000255266:T585M	T	-	2	0	PDE6A	149246105	1.000000	0.71417	0.972000	0.41901	0.938000	0.57974	8.955000	0.93058	2.700000	0.92200	0.655000	0.94253	ACG		0.532	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2		
FAM71B	153745	broad.mit.edu	37	5	156590194	156590194	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:156590194G>A	ENST00000302938.4	-	2	1177	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	361						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCGGCCCCCGCCATCGAGGT	0.567																																						uc003lwn.2																			0				ovary(4)|pancreas(1)|skin(1)	6						c.(1081-1083)GCG>GTG		family with sequence similarity 71, member B							33.0	36.0	35.0					5																	156590194		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590194G>A		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1082C>T	5.37:g.156590194G>A	ENSP00000305596:p.Ala361Val						p.A361V	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1182	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	361					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1082C>T	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	8.201	0.798141	0.16397	.	.	ENSG00000170613	ENST00000302938	T	0.04156	3.69	3.83	-0.0601	0.13790	.	2.284610	0.01796	N	0.032639	T	0.01695	0.0054	N	0.08118	0	0.09310	N	1	P	0.35628	0.513	B	0.14023	0.01	T	0.32929	-0.9888	10	0.02654	T	1	0.1287	1.1705	0.01824	0.2063:0.1729:0.4431:0.1777	.	361	Q8TC56	FA71B_HUMAN	V	361	ENSP00000305596:A361V	ENSP00000305596:A361V	A	-	2	0	FAM71B	156522772	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.879000	0.04188	-0.036000	0.13669	-0.224000	0.12420	GCG		0.567	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899	
GABRB2	2561	broad.mit.edu	37	5	160721114	160721114	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:160721114C>T	ENST00000393959.1	-	10	1512	c.1513G>A	c.(1513-1515)Gtc>Atc	p.V505I	GABRB2_ENST00000520240.1_Missense_Mutation_p.V467I|GABRB2_ENST00000517547.1_Missense_Mutation_p.V307I|GABRB2_ENST00000274547.2_Missense_Mutation_p.V505I|GABRB2_ENST00000517901.1_Missense_Mutation_p.V404I|GABRB2_ENST00000353437.6_Missense_Mutation_p.V467I			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	505					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGCCAATAGACGATGTTGAAG	0.453																																						uc003lys.1																			0					0						c.(1513-1515)GTC>ATC		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						116.0	114.0	115.0					5																	160721114		2203	4300	6503	SO:0001583	missense	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160721114C>T		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1513G>A	5.37:g.160721114C>T	ENSP00000377531:p.Val505Ile					GABRB2_uc011deh.1_Missense_Mutation_p.V306I|GABRB2_uc003lyr.1_Missense_Mutation_p.V467I|GABRB2_uc003lyt.1_Missense_Mutation_p.V467I|GABRB2_uc010jiu.1_Missense_Mutation_p.V404I	p.V505I	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1731	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	505			Helical; (Probable).		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.1513G>A	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343048	0.41498	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.86164	-2.08;-2.08;-1.77;-1.77;-1.77;-1.77	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.166320	0.52532	D	0.000068	T	0.79707	0.4492	N	0.16743	0.435	0.80722	D	1	B;B;B;B	0.27765	0.007;0.003;0.188;0.005	B;B;B;B	0.27500	0.008;0.013;0.08;0.012	T	0.74328	-0.3701	10	0.19147	T	0.46	.	19.9447	0.97177	0.0:1.0:0.0:0.0	.	307;404;505;467	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	I	505;505;467;467;404;307	ENSP00000377531:V505I;ENSP00000274547:V505I;ENSP00000274546:V467I;ENSP00000429320:V467I;ENSP00000430532:V404I;ENSP00000429750:V307I	ENSP00000274547:V505I	V	-	1	0	GABRB2	160653692	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.926000	0.56491	2.719000	0.93026	0.655000	0.94253	GTC		0.453	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1		
KIF13A	63971	broad.mit.edu	37	6	17779855	17779855	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:17779855C>T	ENST00000259711.6	-	32	4012	c.3907G>A	c.(3907-3909)Gta>Ata	p.V1303I	KIF13A_ENST00000378826.2_Missense_Mutation_p.V1303I|KIF13A_ENST00000378814.5_Missense_Mutation_p.V1290I|KIF13A_ENST00000378816.5_Missense_Mutation_p.V1303I|KIF13A_ENST00000378843.2_Missense_Mutation_p.V1290I	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1303					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCATAGGTTACACCACAGGAA	0.383																																						uc003ncg.3																			0				large_intestine(2)|ovary(2)	4						c.(3907-3909)GTA>ATA		kinesin family member 13A isoform a							38.0	41.0	40.0					6																	17779855		1811	4067	5878	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17779855C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3907G>A	6.37:g.17779855C>T	ENSP00000259711:p.Val1303Ile					KIF13A_uc003ncf.2_Missense_Mutation_p.V1290I|KIF13A_uc003nch.3_Missense_Mutation_p.V1303I|KIF13A_uc003nci.3_Missense_Mutation_p.V1290I|KIF13A_uc003nce.1_5'Flank	p.V1303I	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		32	4012	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1303					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.3907G>A	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408081	0.83340	.	.	ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T;T	0.76709	-1.02;1.41;-1.04;-1.01;-1.02;-1.01	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.86335	0.5908	M	0.72353	2.195	0.80722	D	1	P;P;P;D	0.69078	0.924;0.955;0.772;0.997	P;P;P;D	0.80764	0.73;0.47;0.463;0.994	D	0.86396	0.1739	10	0.62326	D	0.03	.	19.7939	0.96471	0.0:1.0:0.0:0.0	.	1290;1303;1303;1290	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	I	1290;307;1303;1303;1290;1303	ENSP00000368091:V1290I;ENSP00000425616:V307I;ENSP00000259711:V1303I;ENSP00000368103:V1303I;ENSP00000368120:V1290I;ENSP00000368093:V1303I	ENSP00000259711:V1303I	V	-	1	0	KIF13A	17887834	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.294000	0.78760	2.668000	0.90789	0.563000	0.77884	GTA		0.383	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		
DEF6	50619	broad.mit.edu	37	6	35280250	35280250	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:35280250C>T	ENST00000316637.5	+	4	600	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	DEF6_ENST00000542066.1_Intron	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	199						cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GGGCGTGGGCCGGGACACCCT	0.652																																						uc003okk.2																			0					0						c.(595-597)CGG>TGG		differentially expressed in FDCP 6 homolog							33.0	39.0	37.0					6																	35280250		2203	4300	6503	SO:0001583	missense	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35280250C>T	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.595C>T	6.37:g.35280250C>T	ENSP00000319831:p.Arg199Trp					DEF6_uc010jvs.2_Missense_Mutation_p.R199W|DEF6_uc010jvt.2_Intron	p.R199W	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN			4	634	+			199					Q86VF4	Missense_Mutation	SNP	ENST00000316637.5	37	c.595C>T	CCDS4802.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.07|15.07	2.723599|2.723599	0.48728|0.48728	.|.	.|.	ENSG00000023892|ENSG00000023892	ENST00000444278|ENST00000394658;ENST00000316637	.|T	.|0.22539	.|1.95	5.52|5.52	4.64|4.64	0.57946|0.57946	.|.	.|0.382752	.|0.29009	.|N	.|0.013436	T|T	0.14399|0.14399	0.0348|0.0348	L|L	0.38175|0.38175	1.15|1.15	0.24652|0.24652	N|N	0.99351|0.99351	.|D;D	.|0.76494	.|0.999;0.999	.|P;P	.|0.49637	.|0.617;0.617	T|T	0.02190|0.02190	-1.1198|-1.1198	5|10	.|0.87932	.|D	.|0	-29.405|-29.405	15.9926|15.9926	0.80217|0.80217	0.1357:0.8643:0.0:0.0|0.1357:0.8643:0.0:0.0	.|.	.|199;199	.|B2RBP7;Q9H4E7	.|.;DEFI6_HUMAN	L|W	107|162;199	.|ENSP00000319831:R199W	.|ENSP00000319831:R199W	P|R	+|+	2|1	0|2	DEF6|DEF6	35388228|35388228	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.996000|0.996000	0.88848|0.88848	3.131000|3.131000	0.50515|0.50515	1.451000|1.451000	0.47736|0.47736	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.652	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	NM_022047	
MOCS1	4337	broad.mit.edu	37	6	39877612	39877612	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:39877612C>T	ENST00000340692.5	-	9	1072	c.1069G>A	c.(1069-1071)Gct>Act	p.A357T	MOCS1_ENST00000373186.4_Missense_Mutation_p.A357T|MOCS1_ENST00000308559.7_Missense_Mutation_p.A357T|MOCS1_ENST00000373195.3_Missense_Mutation_p.A270T|MOCS1_ENST00000373175.4_Missense_Mutation_p.A328T|MOCS1_ENST00000373188.2_Missense_Mutation_p.A357T|MOCS1_ENST00000432280.2_Missense_Mutation_p.A328T|MOCS1_ENST00000425303.2_Missense_Mutation_p.A357T			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	357	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCCACAGCAGCCCCAATGATT	0.622																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	uc003opb.2																			0		p.A357V(1)		ovary(1)|liver(1)|central_nervous_system(1)	3						c.(1069-1071)GCT>ACT		molybdenum cofactor synthesis-step 1 protein							114.0	102.0	106.0					6																	39877612		2203	4300	6503	SO:0001583	missense	4337				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39877612C>T	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1069G>A	6.37:g.39877612C>T	ENSP00000344794:p.Ala357Thr					MOCS1_uc003opa.2_Missense_Mutation_p.A357T|MOCS1_uc003opc.2_Missense_Mutation_p.A357T|MOCS1_uc003opd.2_Missense_Mutation_p.A357T|MOCS1_uc003ope.2_Missense_Mutation_p.A270T	p.A357T	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN			8	1207	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		357			Molybdenum cofactor biosynthesis protein A.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	37	c.1069G>A		.	.	.	.	.	.	.	.	.	.	C	15.69	2.908114	0.52333	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000340692;ENST00000425303;ENST00000432280	D;D;D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	4.98	4.98	0.66077	Molybdenum cofactor synthesis C-terminal (1);	0.109365	0.64402	D	0.000010	D	0.88070	0.6338	M	0.73217	2.22	0.51767	D	0.999936	P;P;P;P;P	0.42337	0.735;0.609;0.776;0.735;0.454	B;B;P;B;B	0.45794	0.36;0.287;0.493;0.36;0.287	D	0.88004	0.2758	9	.	.	.	-7.0908	17.8476	0.88734	0.0:1.0:0.0:0.0	.	357;357;357;357;357	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	T	357;357;328;357;270;357;357;328	ENSP00000362282:A357T;ENSP00000309843:A357T;ENSP00000362270:A328T;ENSP00000362284:A357T;ENSP00000362291:A270T;ENSP00000344794:A357T;ENSP00000416478:A357T;ENSP00000410809:A328T	.	A	-	1	0	MOCS1	39985590	1.000000	0.71417	0.808000	0.32385	0.141000	0.21300	4.784000	0.62411	2.290000	0.77057	0.557000	0.71058	GCT		0.622	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943	
KIAA1244	57221	broad.mit.edu	37	6	138531138	138531138	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:138531138C>T	ENST00000251691.4	+	4	477	c.311C>T	c.(310-312)aCg>aTg	p.T104M		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GTGAAAGTGACGCCTTCGCTC	0.502																																						uc003qhu.2																			0				ovary(1)|skin(1)	2						c.(310-312)ACG>ATG		brefeldin A-inhibited guanine							174.0	137.0	149.0					6																	138531138		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138531138C>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.311C>T	6.37:g.138531138C>T	ENSP00000251691:p.Thr104Met						p.T104M	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	4	311	+	Breast(32;0.135)		104						Missense_Mutation	SNP	ENST00000251691.4	37	c.311C>T	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385486	0.82792	.	.	ENSG00000112379	ENST00000251691	T	0.05025	3.51	5.71	5.71	0.89125	.	0.053410	0.85682	D	0.000000	T	0.13415	0.0325	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03493	-1.1031	10	0.40728	T	0.16	-26.3481	19.8533	0.96747	0.0:1.0:0.0:0.0	.	104	Q5TH69	BIG3_HUMAN	M	104	ENSP00000251691:T104M	ENSP00000251691:T104M	T	+	2	0	KIAA1244	138572831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.193000	0.77780	2.695000	0.91970	0.555000	0.69702	ACG		0.502	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340	
IGF2R	3482	broad.mit.edu	37	6	160501272	160501272	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:160501272A>G	ENST00000356956.1	+	39	5946	c.5798A>G	c.(5797-5799)tAc>tGc	p.Y1933C		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1933	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00479}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	ACTGCGGACTACGACAGAGAC	0.577																																						uc003qta.2																			0				ovary(3)	3						c.(5797-5799)TAC>TGC		insulin-like growth factor 2 receptor precursor							107.0	96.0	99.0					6																	160501272		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160501272A>G	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5798A>G	6.37:g.160501272A>G	ENSP00000349437:p.Tyr1933Cys						p.Y1933C	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	39	5946	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1933			13.|Lumenal (Potential).|Fibronectin type-II.		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.5798A>G	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.135281	0.56828	.	.	ENSG00000197081	ENST00000356956	T	0.57752	0.38	5.63	5.63	0.86233	Mannose-6-phosphate receptor, binding (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76449	0.3989	H	0.97103	3.94	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.83820	0.0246	10	0.87932	D	0	-10.4177	10.5917	0.45314	0.8567:0.0:0.0:0.1432	.	1933	P11717	MPRI_HUMAN	C	1933	ENSP00000349437:Y1933C	ENSP00000349437:Y1933C	Y	+	2	0	IGF2R	160421262	1.000000	0.71417	0.976000	0.42696	0.347000	0.29111	4.659000	0.61504	2.271000	0.75665	0.459000	0.35465	TAC		0.577	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
SCIN	85477	broad.mit.edu	37	7	12683930	12683930	+	Silent	SNP	C	C	T	rs369378047		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:12683930C>T	ENST00000297029.5	+	12	1850	c.1749C>T	c.(1747-1749)ggC>ggT	p.G583G	SCIN_ENST00000519209.1_Silent_p.G336G|SCIN_ENST00000445618.2_Silent_p.G336G	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	583	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TCCAAGAAGGCGAGGAGCCAG	0.448																																						uc003ssn.3																			0				ovary(2)	2						c.(1747-1749)GGC>GGT		scinderin isoform 1		C	,	1,4007		0,1,2003	35.0	40.0	38.0		1749,1008	3.3	0.8	7		38	0,8336		0,0,4168	no	coding-synonymous,coding-synonymous	SCIN	NM_001112706.2,NM_033128.3	,	0,1,6171	TT,TC,CC		0.0,0.025,0.0081	,	583/716,336/469	12683930	1,12343	2004	4168	6172	SO:0001819	synonymous_variant	85477				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	g.chr7:12683930C>T	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1749C>T	7.37:g.12683930C>T						SCIN_uc010ktt.2_Intron|SCIN_uc003sso.3_Silent_p.G336G	p.G583G	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	12	1959	+			583			Ca(2+)-dependent actin binding.		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Silent	SNP	ENST00000297029.5	37	c.1749C>T	CCDS47545.1																																																																																				0.448	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128	
IKZF1	10320	broad.mit.edu	37	7	50467929	50467929	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:50467929G>A	ENST00000331340.3	+	8	1319	c.1164G>A	c.(1162-1164)gcG>gcA	p.A388A	IKZF1_ENST00000349824.4_Silent_p.A245A|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Silent_p.A346A|IKZF1_ENST00000357364.4_Silent_p.A301A|IKZF1_ENST00000343574.5_Silent_p.A301A|IKZF1_ENST00000346667.4_Silent_p.A158A|IKZF1_ENST00000439701.1_Silent_p.A346A|IKZF1_ENST00000438033.1_Silent_p.A301A	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	388					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AGCGCGAGGCGTCCCCGAGCA	0.672			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	uc003tow.3				"""Rec,Dom"""	yes		7	7p12.2	10320	D	IKAROS family zinc finger 1			L			ALL		28	Unknown(28)		haematopoietic_and_lymphoid_tissue(28)	haematopoietic_and_lymphoid_tissue(147)|lung(1)	148						c.(1162-1164)GCG>GCA		zinc finger protein, subfamily 1A, 1 (Ikaros)							20.0	26.0	24.0					7																	50467929		2132	4226	6358	SO:0001819	synonymous_variant	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50467929G>A	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1164G>A	7.37:g.50467929G>A						IKZF1_uc003tox.3_Silent_p.A346A|IKZF1_uc003toy.3_Silent_p.A346A|IKZF1_uc011kck.1_Silent_p.A301A|IKZF1_uc003toz.3_Silent_p.A358A|IKZF1_uc010kyx.2_Silent_p.A128A|IKZF1_uc003tpa.3_Silent_p.A130A	p.A388A	NM_006060	NP_006051	Q13422	IKZF1_HUMAN			9	1332	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	388					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37	c.1164G>A																																																																																					0.672	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060	
EGFR	1956	broad.mit.edu	37	7	55221765	55221765	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:55221765A>G	ENST00000275493.2	+	7	986	c.809A>G	c.(808-810)tAc>tGc	p.Y270C	EGFR_ENST00000454757.2_Missense_Mutation_p.Y217C|EGFR_ENST00000442591.1_Missense_Mutation_p.Y270C|EGFR_ENST00000420316.2_Missense_Mutation_p.Y270C|EGFR_ENST00000455089.1_Missense_Mutation_p.Y225C|EGFR_ENST00000342916.3_Missense_Mutation_p.Y270C|EGFR_ENST00000344576.2_Missense_Mutation_p.Y270C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	270			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CTCATGCTCTACAACCCCACC	0.587		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0		p.V30_R297>G(5)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(808-810)TAC>TGC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						210.0	165.0	180.0					7																	55221765		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221765A>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.809A>G	7.37:g.55221765A>G	ENSP00000275493:p.Tyr270Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.Y270C|EGFR_uc003tqi.2_Missense_Mutation_p.Y270C|EGFR_uc003tqj.2_Missense_Mutation_p.Y270C|EGFR_uc010kzg.1_Missense_Mutation_p.Y225C|EGFR_uc011kco.1_Missense_Mutation_p.Y217C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.Y270C	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1055	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		270			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.809A>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.661131	0.88154	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83801	0.5333	M	0.92555	3.32	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.87710	0.2566	10	0.87932	D	0	.	15.2191	0.73296	1.0:0.0:0.0:0.0	.	225;270;270;270;270	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	C	225;270;140;270;270;270;270;217;64	ENSP00000415559:Y225C;ENSP00000342376:Y270C;ENSP00000345973:Y270C;ENSP00000413843:Y270C;ENSP00000275493:Y270C;ENSP00000410031:Y270C;ENSP00000395243:Y217C	ENSP00000275493:Y270C	Y	+	2	0	EGFR	55189259	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	9.311000	0.96282	2.272000	0.75746	0.460000	0.39030	TAC		0.587	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
AZGP1	563	broad.mit.edu	37	7	99565820	99565820	+	Missense_Mutation	SNP	G	G	A	rs370476332		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:99565820G>A	ENST00000292401.4	-	3	707	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	AZGP1_ENST00000483612.1_5'Flank|AZGP1_ENST00000411734.1_Missense_Mutation_p.R188W	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	191					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AGGTATTTCCGCAGAGTCGCA	0.552																																						uc003ush.2																			0				ovary(1)|central_nervous_system(1)	2						c.(571-573)CGG>TGG		alpha-2-glycoprotein 1, zinc		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	97.0	94.0	95.0		571	2.8	0.1	7		95	0,8600		0,0,4300	no	missense	AZGP1	NM_001185.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	191/299	99565820	1,13005	2203	4300	6503	SO:0001583	missense	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99565820G>A	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.571C>T	7.37:g.99565820G>A	ENSP00000292401:p.Arg191Trp						p.R191W	NM_001185	NP_001176	P25311	ZA2G_HUMAN			3	615	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		191					D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	c.571C>T	CCDS5680.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698671	0.68501	2.27E-4	0.0	ENSG00000160862	ENST00000292401;ENST00000411734	D;D	0.90676	-2.71;-2.71	2.76	2.76	0.32466	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.818283	0.09642	U	0.774805	D	0.94341	0.8181	M	0.84219	2.685	0.29106	N	0.881141	D	0.89917	1.0	D	0.64877	0.93	D	0.86356	0.1714	10	0.87932	D	0	.	7.5052	0.27540	0.0:0.0:0.7429:0.2571	.	191	P25311	ZA2G_HUMAN	W	191;188	ENSP00000292401:R191W;ENSP00000396093:R188W	ENSP00000292401:R191W	R	-	1	2	AZGP1	99403756	0.461000	0.25783	0.056000	0.19401	0.678000	0.39670	0.887000	0.28254	1.464000	0.47987	0.313000	0.20887	CGG		0.552	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185	
OR6V1	346517	broad.mit.edu	37	7	142749461	142749461	+	Silent	SNP	C	C	T	rs369508746		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:142749461C>T	ENST00000418316.1	+	1	45	c.24C>T	c.(22-24)tcC>tcT	p.S8S		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S8S(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GCCAGCCCTCCGAATTTGTCC	0.517																																						uc011ksv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(22-24)TCC>TCT		olfactory receptor, family 6, subfamily V,		C		1,3847		0,1,1923	150.0	145.0	146.0		24	-6.9	0.0	7		146	0,8222		0,0,4111	no	coding-synonymous	OR6V1	NM_001001667.1		0,1,6034	TT,TC,CC		0.0,0.026,0.0083		8/314	142749461	1,12069	1924	4111	6035	SO:0001819	synonymous_variant	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142749461C>T		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.24C>T	7.37:g.142749461C>T							p.S8S	NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN			1	24	+	Melanoma(164;0.059)		8			Extracellular (Potential).		A4D2I0|B9EH48|Q6IF70	Silent	SNP	ENST00000418316.1	37	c.24C>T	CCDS47728.1																																																																																				0.517	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1		
CNTNAP2	26047	broad.mit.edu	37	7	147259237	147259237	+	Silent	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:147259237C>T	ENST00000361727.3	+	12	2301	c.1785C>T	c.(1783-1785)taC>taT	p.Y595Y		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	595	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TAGCTATCTACGAGCCTTCCT	0.448										HNSCC(39;0.1)																												uc003weu.1																			0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1783-1785)TAC>TAT		cell recognition molecule Caspr2 precursor							109.0	102.0	104.0					7																	147259237		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147259237C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1785C>T	7.37:g.147259237C>T		HNSCC(39;0.1)					p.Y595Y	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		12	2301	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	595			Extracellular (Potential).|Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.1785C>T	CCDS5889.1																																																																																				0.448	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
SSPO	23145	broad.mit.edu	37	7	149489760	149489760	+	RNA	SNP	A	A	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:149489760A>C	ENST00000378016.2	+	0	5816							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCTCCAACAACCCCCGCCCC	0.692																																						uc010lpk.2																			0					0						c.(5815-5817)AAC>ACC		SCO-spondin precursor							23.0	31.0	29.0					7																	149489760		1994	4158	6152			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149489760A>C	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149489760A>C							p.N1939T	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		39	5816	+	Melanoma(164;0.165)|Ovarian(565;0.177)		1939			TSP type-1 3.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.5816A>C																																																																																					0.692	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
PRKDC	5591	broad.mit.edu	37	8	48805878	48805878	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr8:48805878G>A	ENST00000314191.2	-	31	3724	c.3668C>T	c.(3667-3669)aCc>aTc	p.T1223I	PRKDC_ENST00000338368.3_Missense_Mutation_p.T1223I|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1223					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CCCCTCAAAGGTGTTGATGAG	0.522								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2																			0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(3667-3669)ACC>ATC	NHEJ	protein kinase, DNA-activated, catalytic							36.0	37.0	36.0					8																	48805878		1863	4096	5959	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48805878G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.3668C>T	8.37:g.48805878G>A	ENSP00000313420:p.Thr1223Ile					PRKDC_uc003xqj.2_Missense_Mutation_p.T1223I|PRKDC_uc011ldh.1_Intron	p.T1223I	NM_006904	NP_008835	P78527	PRKDC_HUMAN			31	3725	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1223					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.3668C>T		.	.	.	.	.	.	.	.	.	.	G	0.458	-0.890675	0.02491	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.64260	-0.09;-0.09	5.82	2.86	0.33363	.	0.768004	0.12423	N	0.470231	T	0.41305	0.1153	.	.	.	0.09310	N	1	B;B	0.20550	0.046;0.0	B;B	0.13407	0.009;0.001	T	0.23261	-1.0193	9	0.28530	T	0.3	.	2.7788	0.05355	0.086:0.3051:0.2957:0.3132	.	1223;1223	E7EUY0;P78527	.;PRKDC_HUMAN	I	1223	ENSP00000313420:T1223I;ENSP00000345182:T1223I	ENSP00000313420:T1223I	T	-	2	0	PRKDC	48968431	0.002000	0.14202	0.001000	0.08648	0.008000	0.06430	0.258000	0.18387	0.328000	0.23435	-0.224000	0.12420	ACC		0.522	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
PENK	5179	broad.mit.edu	37	8	57353950	57353950	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr8:57353950G>A	ENST00000314922.3	-	2	761	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	PENK_ENST00000523274.1_Intron|PENK_ENST00000451791.2_Missense_Mutation_p.R229W	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	229					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)	p.R229W(1)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCTCCATACCGTTTCTGGTAG	0.517																																						uc003xsz.2																			1	Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(685-687)CGG>TGG		proenkephalin							92.0	95.0	94.0					8																	57353950		2203	4300	6503	SO:0001583	missense	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57353950G>A		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.685C>T	8.37:g.57353950G>A	ENSP00000324248:p.Arg229Trp					PENK_uc003xta.3_Missense_Mutation_p.R229W	p.R229W	NM_006211	NP_006202	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		2	766	-		all_lung(136;0.229)	229					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.685C>T	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516790	0.64634	.	.	ENSG00000181195	ENST00000314922;ENST00000451791	T;T	0.20881	2.04;2.04	5.91	-3.17	0.05202	.	0.088300	0.64402	D	0.000001	T	0.51278	0.1665	M	0.87038	2.855	0.43250	D	0.99517	D	0.89917	1.0	D	0.83275	0.996	T	0.69079	-0.5240	10	0.87932	D	0	-33.9081	22.2386	0.99968	0.0:0.0:0.8307:0.1693	.	229	P01210	PENK_HUMAN	W	229	ENSP00000324248:R229W;ENSP00000400894:R229W	ENSP00000324248:R229W	R	-	1	2	PENK	57516504	0.056000	0.20664	0.100000	0.21137	0.980000	0.70556	0.304000	0.19228	-0.396000	0.07703	-0.262000	0.10625	CGG		0.517	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1		
OXR1	55074	broad.mit.edu	37	8	107722899	107722899	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr8:107722899G>T	ENST00000442977.2	+	9	1776	c.1677G>T	c.(1675-1677)ttG>ttT	p.L559F	OXR1_ENST00000312046.6_Missense_Mutation_p.L551F|OXR1_ENST00000531443.1_Missense_Mutation_p.L558F|OXR1_ENST00000445937.1_Missense_Mutation_p.L558F|OXR1_ENST00000452423.2_Missense_Mutation_p.L48F|OXR1_ENST00000517566.2_Missense_Mutation_p.L558F	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	559	Mediates oxidative antimutator activity.				adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			ATAAGTTCTTGTGTCTCAGAG	0.358																																						uc011lht.1																			0					0						c.(1675-1677)TTG>TTT		oxidation resistance 1 isoform 1							113.0	107.0	109.0					8																	107722899		2203	4300	6503	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107722899G>T	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.1677G>T	8.37:g.107722899G>T	ENSP00000405424:p.Leu559Phe					OXR1_uc003ymf.2_Missense_Mutation_p.L558F|OXR1_uc011lhu.1_Missense_Mutation_p.L551F|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_Missense_Mutation_p.L256F	p.L559F	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		9	1776	+			559					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.1677G>T	CCDS56548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.08|16.08	3.020582|3.020582	0.54576|0.54576	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000519415|ENST00000445937;ENST00000531443;ENST00000517566;ENST00000452423;ENST00000442977;ENST00000312046	.|T;T;T;T;T;T	.|0.38401	.|1.24;1.24;1.23;1.14;1.23;1.26	5.73|5.73	1.92|1.92	0.25849|0.25849	.|.	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.50956|0.50956	0.1646|0.1646	M|M	0.72894|0.72894	2.215|2.215	0.38126|0.38126	D|D	0.938009|0.938009	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.999	T|T	0.51340|0.51340	-0.8718|-0.8718	5|10	.|0.52906	.|T	.|0.07	-21.7478|-21.7478	4.7365|4.7365	0.12991|0.12991	0.3785:0.1867:0.4349:0.0|0.3785:0.1867:0.4349:0.0	.|.	.|551;559;558;558	.|Q8N573-2;Q8N573;D3HIS6;Q8N573-5	.|.;OXR1_HUMAN;.;.	F|F	272|558;558;558;48;559;551	.|ENSP00000402918:L558F;ENSP00000431966:L558F;ENSP00000429205:L558F;ENSP00000395032:L48F;ENSP00000405424:L559F;ENSP00000311026:L551F	.|ENSP00000311026:L551F	C|L	+|+	2|3	0|2	OXR1|OXR1	107792075|107792075	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.527000|0.527000	0.34593|0.34593	0.918000|0.918000	0.28678|0.28678	0.449000|0.449000	0.26747|0.26747	0.563000|0.563000	0.77884|0.77884	TGT|TTG		0.358	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354	
ST3GAL1	6482	broad.mit.edu	37	8	134488106	134488106	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr8:134488106G>C	ENST00000319914.5	-	4	1189	c.162C>G	c.(160-162)atC>atG	p.I54M	ST3GAL1_ENST00000399640.2_Missense_Mutation_p.I54M|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.I54M|ST3GAL1_ENST00000519435.1_5'Flank|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.I54M			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	54					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GCCTGTGCTTGATCAGTCTCT	0.597																																						uc003yuk.2																			0					0						c.(160-162)ATC>ATG		ST3 beta-galactoside alpha-2,3-sialyltransferase							102.0	78.0	86.0					8																	134488106		2203	4300	6503	SO:0001583	missense	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134488106G>C	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.162C>G	8.37:g.134488106G>C	ENSP00000318445:p.Ile54Met					ST3GAL1_uc003yum.2_Missense_Mutation_p.I54M	p.I54M	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		5	991	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		54			Lumenal (Potential).		O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	c.162C>G	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	G	0.049	-1.256416	0.01457	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523634	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.55	3.78	0.43462	.	0.719673	0.14230	N	0.332840	T	0.07188	0.0182	N	0.02315	-0.6	0.09310	N	0.999997	B	0.02656	0.0	B	0.08055	0.003	T	0.33904	-0.9850	10	0.33940	T	0.23	-14.3605	9.6429	0.39850	0.0:0.4604:0.4466:0.093	.	54	Q11201	SIA4A_HUMAN	M	54	ENSP00000318445:I54M;ENSP00000414073:I54M;ENSP00000428540:I54M;ENSP00000430515:I54M	ENSP00000318445:I54M	I	-	3	3	ST3GAL1	134557288	0.999000	0.42202	0.010000	0.14722	0.035000	0.12851	1.493000	0.35605	0.742000	0.32697	0.561000	0.74099	ATC		0.597	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033	
BNC2	54796	broad.mit.edu	37	9	16436735	16436735	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr9:16436735C>T	ENST00000380672.4	-	6	1514	c.1457G>A	c.(1456-1458)cGt>cAt	p.R486H	BNC2_ENST00000380667.2_Missense_Mutation_p.R419H|BNC2_ENST00000545497.1_Missense_Mutation_p.R391H|BNC2_ENST00000380666.2_Missense_Mutation_p.R486H	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTGGCGATTACGACTTCGGAG	0.463																																						uc003zml.2																			0				ovary(2)|central_nervous_system(1)	3						c.(1456-1458)CGT>CAT		basonuclin 2							143.0	133.0	137.0					9																	16436735		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436735C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1457G>A	9.37:g.16436735C>T	ENSP00000370047:p.Arg486His					BNC2_uc011lmw.1_Missense_Mutation_p.R391H|BNC2_uc003zmm.2_Missense_Mutation_p.R444H|BNC2_uc003zmq.1_Missense_Mutation_p.R500H|BNC2_uc003zmr.1_Missense_Mutation_p.R523H|BNC2_uc003zmp.1_Missense_Mutation_p.R514H|BNC2_uc010mij.1_Missense_Mutation_p.R408H|BNC2_uc011lmv.1_Missense_Mutation_p.R312H|BNC2_uc003zmo.1_Missense_Mutation_p.R408H|BNC2_uc003zmj.2_Missense_Mutation_p.R251H|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.R251H|BNC2_uc003zmn.1_Missense_Mutation_p.R251H	p.R486H	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1597	-			486						Missense_Mutation	SNP	ENST00000380672.4	37	c.1457G>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973250	0.74246	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.88	5.88	0.94601	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.59742	0.2216	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;0.997;0.996;1.0;0.996;0.98;0.998;0.994;0.998	T	0.60188	-0.7312	10	0.72032	D	0.01	-12.1064	20.2422	0.98381	0.0:1.0:0.0:0.0	.	391;419;486;312;486;443;486;391;251	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	H	486;443;419;391;312;486;486	ENSP00000370047:R486H;ENSP00000408370:R443H;ENSP00000370042:R419H;ENSP00000444640:R391H;ENSP00000370041:R486H	ENSP00000370041:R486H	R	-	2	0	BNC2	16426735	1.000000	0.71417	0.969000	0.41365	0.986000	0.74619	7.818000	0.86416	2.782000	0.95742	0.655000	0.94253	CGT		0.463	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	
C9orf64	84267	broad.mit.edu	37	9	86559803	86559803	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr9:86559803A>T	ENST00000376344.3	-	3	915	c.699T>A	c.(697-699)agT>agA	p.S233R	C9orf64_ENST00000314700.1_Missense_Mutation_p.S92R	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	233										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ACATGGTGATACTGGAGATGT	0.428																																						uc004anb.2																			0					0						c.(697-699)AGT>AGA		hypothetical protein LOC84267							128.0	109.0	115.0					9																	86559803		2203	4300	6503	SO:0001583	missense	84267							g.chr9:86559803A>T	AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.699T>A	9.37:g.86559803A>T	ENSP00000365522:p.Ser233Arg					C9orf64_uc004anc.2_Missense_Mutation_p.S92R	p.S233R	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN			3	947	-			233					B2RPI6|Q8N2B1|Q9BT18	Missense_Mutation	SNP	ENST00000376344.3	37	c.699T>A	CCDS6666.2	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690705	0.48097	.	.	ENSG00000165118	ENST00000376344;ENST00000314700	.	.	.	4.97	-6.72	0.01755	.	0.408324	0.29239	N	0.012724	T	0.36138	0.0956	L	0.39514	1.22	0.58432	D	0.999996	B	0.13145	0.007	B	0.12156	0.007	T	0.02220	-1.1193	9	0.25106	T	0.35	-6.0466	7.5933	0.28033	0.3955:0.0:0.4219:0.1826	.	233	Q5T6V5	CI064_HUMAN	R	233;92	.	ENSP00000318375:S92R	S	-	3	2	C9orf64	85749623	0.980000	0.34600	0.970000	0.41538	0.989000	0.77384	0.216000	0.17585	-0.823000	0.04301	-0.290000	0.09829	AGT		0.428	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1	NM_032307	
HDHD3	81932	broad.mit.edu	37	9	116136378	116136378	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr9:116136378G>A	ENST00000238379.5	-	2	1154	c.257C>T	c.(256-258)gCg>gTg	p.A86V	HDHD3_ENST00000374180.3_Missense_Mutation_p.A86V|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	86						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			large_intestine(2)|liver(1)	3						CTGGACACCCGCCAGGTGGAA	0.617																																						uc004bhi.1																			0					0						c.(256-258)GCG>GTG		haloacid dehalogenase-like hydrolase domain							51.0	53.0	53.0					9																	116136378		2203	4300	6503	SO:0001583	missense	81932						phosphoglycolate phosphatase activity|protein binding	g.chr9:116136378G>A	AK097067	CCDS6793.1	9q33.1	2006-04-12	2004-08-09	2004-08-12	ENSG00000119431	ENSG00000119431			28171	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 158"""	C9orf158		12477932	Standard	NM_031219		Approved	MGC12904	uc004bhi.1	Q9BSH5	OTTHUMG00000020524	ENST00000238379.5:c.257C>T	9.37:g.116136378G>A	ENSP00000238379:p.Ala86Val					HDHD3_uc004bhj.2_Missense_Mutation_p.A86V|HDHD3_uc004bhk.2_Missense_Mutation_p.A86V	p.A86V	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN			2	1041	-			86					B2RD47	Missense_Mutation	SNP	ENST00000238379.5	37	c.257C>T	CCDS6793.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340042	0.81911	.	.	ENSG00000119431	ENST00000238379;ENST00000374180	T;T	0.05382	3.45;3.45	5.76	5.76	0.90799	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.218152	0.47455	D	0.000228	T	0.11324	0.0276	L	0.31752	0.955	0.40966	D	0.984663	D	0.76494	0.999	P	0.54965	0.765	T	0.35051	-0.9804	10	0.12766	T	0.61	-7.802	18.9453	0.92620	0.0:0.0:1.0:0.0	.	86	Q9BSH5	HDHD3_HUMAN	V	86	ENSP00000238379:A86V;ENSP00000363295:A86V	ENSP00000238379:A86V	A	-	2	0	HDHD3	115176199	0.999000	0.42202	0.921000	0.36526	0.640000	0.38277	5.977000	0.70492	2.721000	0.93114	0.655000	0.94253	GCG		0.617	HDHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053731.1	NM_031219	
FAM129B	64855	broad.mit.edu	37	9	130272452	130272452	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr9:130272452G>A	ENST00000373312.3	-	9	1347	c.1134C>T	c.(1132-1134)aaC>aaT	p.N378N	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Silent_p.N365N	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	378					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TGCCGCCCTCGTTGATGACGT	0.637																																						uc004brh.2																			0					0						c.(1132-1134)AAC>AAT		hypothetical protein LOC64855 isoform 1							135.0	124.0	128.0					9																	130272452		2203	4300	6503	SO:0001819	synonymous_variant	64855						protein binding	g.chr9:130272452G>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1134C>T	9.37:g.130272452G>A						FAM129B_uc004bri.2_Silent_p.N365N|FAM129B_uc004brj.3_Silent_p.N378N	p.N378N	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN			9	1336	-			378					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Silent	SNP	ENST00000373312.3	37	c.1134C>T	CCDS35145.1																																																																																				0.637	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833	
TOR4A	54863	broad.mit.edu	37	9	140173549	140173549	+	Silent	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr9:140173549C>T	ENST00000357503.2	+	2	604	c.408C>T	c.(406-408)aaC>aaT	p.N136N		NM_017723.2	NP_060193.2	Q9NXH8	TOR4A_HUMAN	torsin family 4, member A	136					chaperone mediated protein folding requiring cofactor (GO:0051085)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)										AAGTTCTCAACGCTATCGAGA	0.662																																						uc004cmn.2																			0				pancreas(1)	1						c.(406-408)AAC>AAT		hypothetical protein LOC54863							20.0	17.0	18.0					9																	140173549		2202	4297	6499	SO:0001819	synonymous_variant	54863				chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity	g.chr9:140173549C>T	AK023361	CCDS7041.1	9q34.3	2012-04-03	2012-04-03	2012-04-03	ENSG00000198113	ENSG00000198113			25981	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 167"""	C9orf167			Standard	NM_017723		Approved	FLJ20245	uc004cmn.3	Q9NXH8	OTTHUMG00000131779	ENST00000357503.2:c.408C>T	9.37:g.140173549C>T						C9orf167_uc011mew.1_5'Flank	p.N136N	NM_017723	NP_060193	Q9NXH8	CI167_HUMAN	STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000728)	2	525	+	all_cancers(76;0.0926)		136			Helical; (Potential).		A2BFA4	Silent	SNP	ENST00000357503.2	37	c.408C>T	CCDS7041.1																																																																																				0.662	TOR4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254711.1	NM_017723	
ZMYM3	9203	broad.mit.edu	37	X	70469493	70469493	+	Silent	SNP	G	G	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chrX:70469493G>T	ENST00000353904.2	-	7	1475	c.1288C>A	c.(1288-1290)Cgg>Agg	p.R430R	ZMYM3_ENST00000373998.1_Silent_p.R430R|ZMYM3_ENST00000373984.3_Silent_p.R432R|ZMYM3_ENST00000373978.1_Silent_p.T333T|ZMYM3_ENST00000373981.1_Silent_p.R430R|ZMYM3_ENST00000314425.5_Silent_p.R430R|ZMYM3_ENST00000373982.1_Silent_p.R432R|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Silent_p.R432R	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	430					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTGCAGAGCCGGTGTACCACG	0.587																																						uc004dzh.1																			0				ovary(1)	1						c.(1288-1290)CGG>AGG		zinc finger protein 261							125.0	82.0	97.0					X																	70469493		2203	4300	6503	SO:0001819	synonymous_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70469493G>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1288C>A	X.37:g.70469493G>T						BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Silent_p.R430R|ZMYM3_uc004dzj.1_Silent_p.R430R|ZMYM3_uc011mpu.1_Silent_p.R161R|ZMYM3_uc004dzk.3_Silent_p.R430R|ZMYM3_uc004dzl.3_Silent_p.R430R|ZMYM3_uc004dzm.3_Silent_p.R430R	p.R430R	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			7	1375	-	Renal(35;0.156)		430			MYM-type 3.		D3DVV3|O15089|Q96E26	Silent	SNP	ENST00000353904.2	37	c.1288C>A	CCDS14409.1																																																																																				0.587	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599	
COL4A6	1288	broad.mit.edu	37	X	107431199	107431199	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chrX:107431199A>T	ENST00000372216.4	-	22	1749	c.1649T>A	c.(1648-1650)cTc>cAc	p.L550H	COL4A6_ENST00000394872.2_Missense_Mutation_p.L550H|COL4A6_ENST00000334504.7_Missense_Mutation_p.L549H|COL4A6_ENST00000538570.1_Missense_Mutation_p.L549H|COL4A6_ENST00000545689.1_Missense_Mutation_p.L549H	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	550	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GATTGTACTGAGAATTGGTTC	0.512									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.3																			0				ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(1648-1650)CTC>CAC		type IV alpha 6 collagen isoform A precursor							97.0	95.0	96.0					X																	107431199		2203	4300	6503	SO:0001583	missense	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107431199A>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1649T>A	X.37:g.107431199A>T	ENSP00000361290:p.Leu550His					COL4A6_uc004env.3_Missense_Mutation_p.L549H|COL4A6_uc011msn.1_Missense_Mutation_p.L549H|COL4A6_uc010npk.2_Missense_Mutation_p.L549H	p.L550H	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			22	1752	-			550			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.1649T>A	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	A	5.658	0.305998	0.10733	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57	5.05	1.07	0.20283	.	1.174900	0.06505	N	0.736934	D	0.88735	0.6517	N	0.14661	0.345	0.09310	N	1	P;P;P;P	0.37573	0.545;0.545;0.6;0.545	B;B;P;B	0.45913	0.364;0.364;0.497;0.364	T	0.79738	-0.1677	10	0.15066	T	0.55	.	1.7708	0.03011	0.4976:0.1412:0.0829:0.2783	.	549;549;550;549	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	H	550;549;550;549;549;549	ENSP00000361290:L550H;ENSP00000334733:L549H;ENSP00000378340:L550H;ENSP00000443707:L549H;ENSP00000445236:L549H	ENSP00000334733:L549H	L	-	2	0	COL4A6	107317855	0.870000	0.30015	0.000000	0.03702	0.078000	0.17371	2.028000	0.41088	-0.023000	0.13963	0.417000	0.27973	CTC		0.512	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		
DCAF12L1	139170	broad.mit.edu	37	X	125685359	125685359	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chrX:125685359G>A	ENST00000371126.1	-	1	1475	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	411										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CATTGTGGTTGAGCCAGCCTC	0.552																																						uc004eul.2																			0				skin(3)|ovary(1)	4						c.(1231-1233)CTC>CTT		DDB1 and CUL4 associated factor 12-like 1							87.0	81.0	83.0					X																	125685359		2203	4300	6503	SO:0001819	synonymous_variant	139170							g.chrX:125685359G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1233C>T	X.37:g.125685359G>A							p.L411L	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	1484	-			411					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.1233C>T	CCDS14610.1																																																																																				0.552	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470	
