#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PRAMEF2	65122	broad.mit.edu	37	1	12920037	12920037	+	Silent	SNP	C	C	T	rs529323357		TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr1:12920037C>T	ENST00000240189.2	+	3	864	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	259					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCAGATTCACCTCTGTGT	0.458																																						uc001aum.1		NA																	0					0						c.(775-777)TTC>TTT		PRAME family member 2							102.0	102.0	102.0					1																	12920037		2201	4292	6493	SO:0001819	synonymous_variant	65122							g.chr1:12920037C>T		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.777C>T	1.37:g.12920037C>T							p.F259F	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	864	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	259						Silent	SNP	ENST00000240189.2	37	c.777C>T	CCDS149.1																																																																																				0.458	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		10	125	0	0	0	0	10	125				
MPL	4352	broad.mit.edu	37	1	43812539	43812539	+	Silent	SNP	G	G	A	rs544064034		TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr1:43812539G>A	ENST00000372470.3	+	8	1284	c.1242G>A	c.(1240-1242)tcG>tcA	p.S414S	MPL_ENST00000413998.2_Silent_p.S414S	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	414	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	AGCACCCATCGTCCTGGGCAG	0.567			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						g|||	1	0.000199681	0.0	0.0	5008	,	,		16653	0.0		0.0	False		,,,				2504	0.001				NSCLC(52;534 1204 10016 41452 44427)	uc001ciw.2		NA	yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	Mis	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	congenital amegakaryocytic thrombocytopenia	L		MPD	MPD		0				haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363						c.(1240-1242)TCG>TCA		myeloproliferative leukemia virus oncogene							58.0	53.0	54.0					1																	43812539		2203	4300	6503	SO:0001819	synonymous_variant	4352				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	g.chr1:43812539G>A	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.1242G>A	1.37:g.43812539G>A						MPL_uc001civ.2_Silent_p.S414S|MPL_uc009vwr.2_Silent_p.S407S	p.S414S	NM_005373	NP_005364	P40238	TPOR_HUMAN			8	1287	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	414			Fibronectin type-III 2.|Extracellular (Potential).		Q5JUZ0	Silent	SNP	ENST00000372470.3	37	c.1242G>A	CCDS483.1																																																																																				0.567	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373		10	69	0	0	0	0	10	69				
EFCAB14	9813	broad.mit.edu	37	1	47148983	47148983	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr1:47148983G>C	ENST00000371933.3	-	10	2277	c.1301C>G	c.(1300-1302)tCt>tGt	p.S434C	EFCAB14_ENST00000544071.1_Missense_Mutation_p.S370C|EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14_ENST00000484461.1_5'Flank	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	434	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)										TTCAGTGCTAGAAACTCCTGG	0.358																																						uc001cqk.3		NA																	0					0						c.(1300-1302)TCT>TGT		hypothetical protein LOC9813							109.0	114.0	113.0					1																	47148983		2203	4300	6503	SO:0001583	missense	9813						calcium ion binding	g.chr1:47148983G>C	AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"""EF-hand domain containing"""	29051	protein-coding gene	gene with protein product			"""KIAA0494"""	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.1301C>G	1.37:g.47148983G>C	ENSP00000361001:p.Ser434Cys					KIAA0494_uc010omh.1_Missense_Mutation_p.S370C|KIAA0494_uc010omj.1_Missense_Mutation_p.S226C	p.S434C	NM_014774	NP_055589	O75071	K0494_HUMAN			10	2278	-	Acute lymphoblastic leukemia(166;0.155)		434			EF-hand 1.		D3DQ23|Q5SXB8	Missense_Mutation	SNP	ENST00000371933.3	37	c.1301C>G	CCDS30706.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023783	0.75390	.	.	ENSG00000159658	ENST00000544071;ENST00000371933	T;T	0.56941	0.43;1.62	5.35	4.43	0.53597	EF-hand-like domain (1);	0.324362	0.34110	N	0.004253	T	0.66187	0.2764	M	0.61703	1.905	0.37716	D	0.924756	D;D;D	0.64830	0.994;0.982;0.99	P;P;P	0.60473	0.875;0.789;0.875	T	0.74586	-0.3616	10	0.87932	D	0	-1.526	14.2429	0.65969	0.0:0.0:0.8508:0.1492	.	226;370;434	B7Z3D1;F5H7K3;O75071	.;.;K0494_HUMAN	C	370;434	ENSP00000442465:S370C;ENSP00000361001:S434C	ENSP00000361001:S434C	S	-	2	0	KIAA0494	46921570	1.000000	0.71417	0.995000	0.50966	0.964000	0.63967	3.989000	0.56958	1.613000	0.50231	0.655000	0.94253	TCT		0.358	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774		9	126	0	0	0	0	9	126				
ARMC4	55130	broad.mit.edu	37	10	28228887	28228887	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr10:28228887A>G	ENST00000305242.5	-	14	2128	c.2036T>C	c.(2035-2037)gTc>gCc	p.V679A	ARMC4_ENST00000545014.1_Missense_Mutation_p.V204A|ARMC4_ENST00000537576.1_Missense_Mutation_p.V371A	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	679					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TAGGTTCTTGACAAGGTTTTC	0.433																																						uc009xky.2		NA																	0				ovary(4)|skin(2)	6						c.(2035-2037)GTC>GCC		armadillo repeat containing 4							112.0	103.0	106.0					10																	28228887		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28228887A>G	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2036T>C	10.37:g.28228887A>G	ENSP00000306410:p.Val679Ala					ARMC4_uc010qds.1_Missense_Mutation_p.V204A|ARMC4_uc010qdt.1_Missense_Mutation_p.V371A|ARMC4_uc001itz.2_Missense_Mutation_p.V679A	p.V679A	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			14	2134	-			679			ARM 4.|HEAT.		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.2036T>C	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.011846	0.54468	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	D;D;D	0.95853	-3.83;-3.83;-3.83	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.98074	0.9365	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.981;0.994	D	0.98936	1.0789	10	0.66056	D	0.02	-29.1442	14.94	0.70986	1.0:0.0:0.0:0.0	.	204;679	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	A	371;679;204	ENSP00000443208:V371A;ENSP00000306410:V679A;ENSP00000441076:V204A	ENSP00000306410:V679A	V	-	2	0	ARMC4	28268893	1.000000	0.71417	0.531000	0.27976	0.019000	0.09904	7.480000	0.81109	2.266000	0.75297	0.533000	0.62120	GTC		0.433	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		5	58	0	0	0	0	5	58				
MTPAP	55149	broad.mit.edu	37	10	30630542	30630542	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr10:30630542C>G	ENST00000263063.4	-	2	228	c.185G>C	c.(184-186)aGa>aCa	p.R62T	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Missense_Mutation_p.R192T	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	62					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CTCAGAGAATCTCCTTTTGGG	0.348																																						uc001iva.3		NA																	0				ovary(1)	1						c.(184-186)AGA>ACA		PAP associated domain containing 1 precursor							83.0	84.0	84.0					10																	30630542		2203	4300	6503	SO:0001583	missense	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30630542C>G	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.185G>C	10.37:g.30630542C>G	ENSP00000263063:p.Arg62Thr					MTPAP_uc001ivb.3_Missense_Mutation_p.R192T|MTPAP_uc001ivc.2_Missense_Mutation_p.R62T	p.R62T	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN			2	248	-			62					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	37	c.185G>C	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	.	0.042	-1.278856	0.01410	.	.	ENSG00000107951	ENST00000358107;ENST00000263063;ENST00000421701	T;T;T	0.38722	2.14;1.61;1.12	5.0	-1.36	0.09085	.	0.471921	0.23314	N	0.049521	T	0.21921	0.0528	L	0.28014	0.82	0.25105	N	0.990758	B;B;B	0.13594	0.006;0.008;0.001	B;B;B	0.14023	0.005;0.01;0.0	T	0.21827	-1.0234	10	0.13853	T	0.58	-8.557	7.2356	0.26067	0.0:0.2457:0.474:0.2803	.	24;192;62	Q5T851;Q9NVV4-2;Q9NVV4	.;.;PAPD1_HUMAN	T	192;62;24	ENSP00000350820:R192T;ENSP00000263063:R62T;ENSP00000394118:R24T	ENSP00000263063:R62T	R	-	2	0	MTPAP	30670548	0.999000	0.42202	0.970000	0.41538	0.147000	0.21601	0.650000	0.24858	-0.029000	0.13827	-0.258000	0.10820	AGA		0.348	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		6	82	0	0	0	0	6	82				
C10orf11	83938	broad.mit.edu	37	10	77818491	77818491	+	Nonsense_Mutation	SNP	C	C	T	rs200848450		TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr10:77818491C>T	ENST00000372499.1	+	4	597	c.382C>T	c.(382-384)Cga>Tga	p.R128*	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	128	LRRCT.				melanocyte differentiation (GO:0030318)					endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					CAGACAAGAACGAGAGGAGGC	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		20355	0.001		0.0	False		,,,				2504	0.0					uc001jxi.2		NA																	0					0						c.(382-384)CGA>TGA		chromosome 10 open reading frame 11		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	148.0	139.0	142.0		382	4.8	1.0	10		142	0,8600		0,0,4300	no	stop-gained	C10orf11	NM_032024.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		128/199	77818491	1,13005	2203	4300	6503	SO:0001587	stop_gained	83938							g.chr10:77818491C>T	AF267860	CCDS7351.1	10q22.3	2013-08-22			ENSG00000148655	ENSG00000148655			23405	protein-coding gene	gene with protein product	"""oculocutaneous albinism 7, autosomal recessive"""	614537				23395477	Standard	NM_032024		Approved	CDA017, OCA7	uc001jxi.3	Q9H2I8	OTTHUMG00000018532	ENST00000372499.1:c.382C>T	10.37:g.77818491C>T	ENSP00000361577:p.Arg128*						p.R128*	NM_032024	NP_114413	Q9H2I8	CJ011_HUMAN			4	597	+	Prostate(51;0.0095)|all_epithelial(25;0.0221)		128			LRRCT.		B1AVW6	Nonsense_Mutation	SNP	ENST00000372499.1	37	c.382C>T	CCDS7351.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	39	7.641517	0.98406	2.27E-4	0.0	ENSG00000148655	ENST00000354343;ENST00000372499	.	.	.	5.66	4.75	0.60458	.	0.413038	0.24599	N	0.037147	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1824	14.5045	0.67743	0.2808:0.7192:0.0:0.0	.	.	.	.	X	156;128	.	ENSP00000346310:R156X	R	+	1	2	C10orf11	77488497	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.146000	0.42216	1.377000	0.46286	0.655000	0.94253	CGA		0.478	C10orf11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048839.1	NM_032024		13	106	0	0	0	0	13	106				
MUC6	4588	broad.mit.edu	37	11	1018367	1018367	+	Silent	SNP	T	T	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr11:1018367T>A	ENST00000421673.2	-	31	4484	c.4434A>T	c.(4432-4434)tcA>tcT	p.S1478S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1478	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGTTGGCGCTGAGTGGTTGG	0.587																																						uc001lsw.2		NA																	0				ovary(1)	1						c.(4432-4434)TCA>TCT		mucin 6, gastric							203.0	203.0	203.0					11																	1018367		2182	4260	6442	SO:0001819	synonymous_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1018367T>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4434A>T	11.37:g.1018367T>A							p.S1478S	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	4485	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1478			Pro-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	c.4434A>T	CCDS44513.1																																																																																				0.587	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		20	206	0	0	0	0	20	206				
MOB2	81532	broad.mit.edu	37	11	1501645	1501645	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr11:1501645G>A	ENST00000329957.6	-	3	532	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	84					actin cytoskeleton organization (GO:0030036)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cytoplasm (GO:0005737)|neuron projection terminus (GO:0044306)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)	4						GCCATCGTCTGACACGTCTCT	0.587																																						uc010qwz.1		NA																	0					0						c.(343-345)CAG>TAG		HCCA2 protein							108.0	114.0	112.0					11																	1501645		2089	4214	6303	SO:0001587	stop_gained	81532					nucleus|perinuclear region of cytoplasm	metal ion binding	g.chr11:1501645G>A		CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208		"""MOB kinase activators"""	24904	protein-coding gene	gene with protein product	"""MOB2 Mps One Binder homolog (yeast)"""	611969				11223154, 15067004	Standard	NM_053005		Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.343C>T	11.37:g.1501645G>A	ENSP00000328694:p.Gln115*					MOB2_uc001lto.1_5'UTR|MOB2_uc001ltp.1_5'UTR|MOB2_uc001ltq.1_Nonsense_Mutation_p.Q78*|MOB2_uc010qwy.1_5'UTR	p.Q115*	NM_053005	NP_443731	Q70IA6	MOB2_HUMAN			3	533	-			84					B4DKP3|Q96M67	Nonsense_Mutation	SNP	ENST00000329957.6	37	c.343C>T	CCDS53591.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607177	0.87157	.	.	ENSG00000182208	ENST00000329957	.	.	.	4.9	4.9	0.64082	.	0.075948	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-40.746	18.2711	0.90069	0.0:0.0:1.0:0.0	.	.	.	.	X	115	.	ENSP00000328694:Q115X	Q	-	1	0	AC091196.1	1458221	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	9.192000	0.94947	2.549000	0.85964	0.462000	0.41574	CAG		0.587	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000384770.1	NM_053005		10	82	0	0	0	0	10	82				
CSRP3	8048	broad.mit.edu	37	11	19213969	19213969	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr11:19213969T>G	ENST00000533783.1	-	3	267	c.27A>C	c.(25-27)aaA>aaC	p.K9N	CSRP3_ENST00000265968.3_Missense_Mutation_p.K9N	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	9					cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue development (GO:0048738)|cardiac myofibril assembly (GO:0055003)|cellular calcium ion homeostasis (GO:0006874)|detection of muscle stretch (GO:0035995)|protein localization to organelle (GO:0033365)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)	cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)	actinin binding (GO:0042805)|structural constituent of muscle (GO:0008307)|telethonin binding (GO:0031433)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						AGGCTCCACATTTTGCGCCTC	0.498																																						uc001mpk.2		NA																	0					0						c.(25-27)AAA>AAC		cysteine and glycine-rich protein 3							141.0	109.0	120.0					11																	19213969		2199	4293	6492	SO:0001583	missense	8048				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding	g.chr11:19213969T>G	U20324	CCDS7848.1	11p15.1	2014-09-17				ENSG00000129170			2472	protein-coding gene	gene with protein product		600824				7490106	Standard	NM_003476		Approved	CLP, MLP, CMD1M	uc001mpk.3	P50461		ENST00000533783.1:c.27A>C	11.37:g.19213969T>G	ENSP00000431813:p.Lys9Asn						p.K9N	NM_003476	NP_003467	P50461	CSRP3_HUMAN			2	144	-			9					Q9P131	Missense_Mutation	SNP	ENST00000533783.1	37	c.27A>C	CCDS7848.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.954057	0.53293	.	.	ENSG00000129170	ENST00000265968;ENST00000533783	T;T	0.69561	-0.41;-0.41	6.02	-2.84	0.05751	Zinc finger, LIM-type (3);	0.285799	0.41396	D	0.000883	T	0.73418	0.3584	M	0.80982	2.52	0.51767	D	0.999939	B	0.33212	0.402	P	0.49829	0.623	T	0.72520	-0.4268	10	0.72032	D	0.01	-6.5081	8.8749	0.35339	0.0:0.3761:0.1074:0.5165	.	9	P50461	CSRP3_HUMAN	N	9	ENSP00000265968:K9N;ENSP00000431813:K9N	ENSP00000265968:K9N	K	-	3	2	CSRP3	19170545	0.616000	0.27035	0.928000	0.36995	0.378000	0.30076	-0.207000	0.09384	-0.294000	0.08973	-0.256000	0.11100	AAA		0.498	CSRP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394484.1	NM_003476		3	45	0	0	0	0	3	45				
LAMTOR1	55004	broad.mit.edu	37	11	71808908	71808908	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr11:71808908T>A	ENST00000278671.5	-	5	608	c.446A>T	c.(445-447)gAc>gTc	p.D149V	LRTOMT_ENST00000419228.1_Intron|LRTOMT_ENST00000307198.7_Intron|LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000439209.1_Intron|LRTOMT_ENST00000435085.1_Intron|LAMTOR1_ENST00000545249.1_Intron|LAMTOR1_ENST00000539797.1_5'UTR|LAMTOR1_ENST00000538404.1_3'UTR	NM_017907.2	NP_060377.1	Q6IAA8	LTOR1_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 1	149	Interaction with LAMTOR2 and LAMTOR3. {ECO:0000250}.				cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|cholesterol homeostasis (GO:0042632)|endosome localization (GO:0032439)|endosome organization (GO:0007032)|lysosome localization (GO:0032418)|lysosome organization (GO:0007040)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of TOR signaling (GO:0032008)|regulation of cholesterol efflux (GO:0010874)|regulation of cholesterol esterification (GO:0010872)|regulation of cholesterol import (GO:0060620)|regulation of receptor recycling (GO:0001919)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|Ragulator complex (GO:0071986)				cervix(1)	1						CTCTTTTGCGTCCACACGGAT	0.552																																						uc001ort.2		NA																	0					0						c.(445-447)GAC>GTC		hypothetical protein LOC55004							187.0	184.0	185.0					11																	71808908		2200	4293	6493	SO:0001583	missense	55004				cell growth|cellular protein localization|cellular response to amino acid stimulus|cholesterol homeostasis|endosome localization|endosome organization|lysosome localization|lysosome organization|positive regulation of MAPKKK cascade|positive regulation of TOR signaling cascade|regulation of cholesterol efflux|regulation of cholesterol esterification|regulation of cholesterol import|regulation of receptor recycling	Golgi apparatus|lysosomal membrane|plasma membrane|Ragulator complex	protein binding	g.chr11:71808908T>A	AK000632	CCDS8209.1	11q13.4	2011-05-18	2011-02-15	2011-02-15	ENSG00000149357	ENSG00000149357			26068	protein-coding gene	gene with protein product	"""p27kip1 releasing factor from RhoA"", ""protein associated with DRMs and endosomes"""	613510	"""chromosome 11 open reading frame 59"""	C11orf59		12358155	Standard	NM_017907		Approved	FLJ20625, p18, p27RF-Rho, Pdro, Ragulator1	uc001ort.3	Q6IAA8	OTTHUMG00000167869	ENST00000278671.5:c.446A>T	11.37:g.71808908T>A	ENSP00000278671:p.Asp149Val					LRTOMT_uc010rqv.1_Intron|LRTOMT_uc010rqw.1_Intron|LRTOMT_uc001ors.3_Intron|C11orf59_uc009ytb.2_Silent_p.G73G|C11orf59_uc001oru.1_3'UTR	p.D149V	NM_017907	NP_060377	Q6IAA8	LTOR1_HUMAN			5	498	-			149			Interaction with LAMTOR2 and LAMTOR3 (By similarity).		Q8WZ09|Q9NWT0	Missense_Mutation	SNP	ENST00000278671.5	37	c.446A>T	CCDS8209.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.559316	0.86335	.	.	ENSG00000149357	ENST00000278671	T	0.50813	0.73	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.58509	0.2127	M	0.68593	2.085	0.80722	D	1	P	0.51351	0.944	P	0.50754	0.649	T	0.63773	-0.6561	10	0.87932	D	0	.	15.6433	0.77025	0.0:0.0:0.0:1.0	.	149	Q6IAA8	LTOR1_HUMAN	V	149	ENSP00000278671:D149V	ENSP00000278671:D149V	D	-	2	0	LAMTOR1	71486556	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.390000	0.79816	2.183000	0.69458	0.533000	0.62120	GAC		0.552	LAMTOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396733.1	NM_017907		18	238	0	0	0	0	18	238				
TMEM25	84866	broad.mit.edu	37	11	118404820	118404820	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr11:118404820A>T	ENST00000313236.5	+	7	966	c.913A>T	c.(913-915)Aat>Tat	p.N305Y	TMEM25_ENST00000544878.1_Missense_Mutation_p.N208Y|TMEM25_ENST00000442938.2_Missense_Mutation_p.N261Y|TMEM25_ENST00000354064.7_Missense_Mutation_p.N157Y|TMEM25_ENST00000359862.4_Missense_Mutation_p.N261Y|TMEM25_ENST00000411589.2_Missense_Mutation_p.N261Y|TMEM25_ENST00000533102.1_Missense_Mutation_p.N305Y|TMEM25_ENST00000524725.1_Missense_Mutation_p.N261Y|TMEM25_ENST00000354284.4_Missense_Mutation_p.N305Y	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25	305						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CCTTCAGCTCAATGACCTCAC	0.517																																						uc010rye.1		NA																	0					0						c.(913-915)AAT>TAT		transmembrane protein 25 isoform 1							116.0	98.0	104.0					11																	118404820		2200	4295	6495	SO:0001583	missense	84866					extracellular region|integral to membrane|plasma membrane		g.chr11:118404820A>T	AK075437	CCDS8398.1, CCDS44745.1, CCDS44746.1, CCDS44747.1, CCDS44748.1	11q23.3	2013-01-11			ENSG00000149582	ENSG00000149582		"""Immunoglobulin superfamily / C2-set domain containing"""	25890	protein-coding gene	gene with protein product		613934				15254712, 12975309	Standard	NM_001144034		Approved	FLJ14399	uc010rye.2	Q86YD3	OTTHUMG00000166339	ENST00000313236.5:c.913A>T	11.37:g.118404820A>T	ENSP00000315635:p.Asn305Tyr					TMEM25_uc001ptk.3_Missense_Mutation_p.N305Y|TMEM25_uc001pth.2_Missense_Mutation_p.N261Y|TMEM25_uc009zad.2_Missense_Mutation_p.N261Y|TMEM25_uc001pti.2_Missense_Mutation_p.N157Y|TMEM25_uc010ryf.1_Missense_Mutation_p.N208Y|TMEM25_uc001ptl.2_Missense_Mutation_p.N305Y|TMEM25_uc001ptm.2_Missense_Mutation_p.N261Y|TMEM25_uc001ptn.2_Missense_Mutation_p.N261Y	p.N305Y	NM_032780	NP_116169	Q86YD3	TMM25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	7	1087	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)	305			Cytoplasmic (Potential).		A8K8J4|B0YJA6|B0YJA7|B0YJA9|G5E9U4|Q6UW89|Q86UA7|Q8NBL5|Q96KA6|Q96MW9	Missense_Mutation	SNP	ENST00000313236.5	37	c.913A>T	CCDS8398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.7|26.7	4.761702|4.761702	0.89932|0.89932	.|.	.|.	ENSG00000149582|ENSG00000149582	ENST00000411589;ENST00000442938;ENST00000359862;ENST00000544878;ENST00000354284;ENST00000532762;ENST00000354064;ENST00000533102;ENST00000313236;ENST00000524725|ENST00000526853	T;T;T;T;T;T;T;T;T;T|.	0.47869|.	1.27;0.96;1.27;0.85;1.32;0.83;0.86;1.29;1.45;1.27|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53367|0.53367	0.1792|0.1792	L|L	0.27053|0.27053	0.805|0.805	0.53688|0.53688	D|D	0.999977|0.999977	D;D;P;P;D;D;D;P|.	0.89917|.	0.999;0.998;0.771;0.853;0.999;0.999;1.0;0.853|.	D;D;P;P;D;D;D;P|.	0.87578|.	0.996;0.929;0.554;0.74;0.985;0.976;0.998;0.629|.	T|T	0.50482|0.50482	-0.8823|-0.8823	10|5	0.72032|.	D|.	0.01|.	-9.8427|-9.8427	14.3154|14.3154	0.66446|0.66446	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	208;305;261;261;305;305;157;261|.	F5H294;Q86YD3;Q8NBL5;G5E9U4;Q86YD3-4;E9PKP3;Q86YD3-3;Q86YD3-2|.	.;TMM25_HUMAN;.;.;.;.;.;.|.	Y|L	261;261;261;208;305;164;157;305;305;261|139	ENSP00000411882:N261Y;ENSP00000416071:N261Y;ENSP00000352924:N261Y;ENSP00000439408:N208Y;ENSP00000346237:N305Y;ENSP00000433906:N164Y;ENSP00000278959:N157Y;ENSP00000431548:N305Y;ENSP00000315635:N305Y;ENSP00000431205:N261Y|.	ENSP00000315635:N305Y|.	N|Q	+|+	1|2	0|0	TMEM25|TMEM25	117910030|117910030	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.989000|0.989000	0.77384|0.77384	3.020000|3.020000	0.49643|0.49643	2.270000|2.270000	0.75569|0.75569	0.459000|0.459000	0.35465|0.35465	AAT|CAA		0.517	TMEM25-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389266.1	NM_032780		7	46	0	0	0	0	7	46				
DCP1B	196513	broad.mit.edu	37	12	2107117	2107117	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr12:2107117A>T	ENST00000280665.6	-	2	254	c.175T>A	c.(175-177)Tta>Ata	p.L59I	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	59					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TAAACAAATAAGGTTCCTTCC	0.308																																						uc001qjx.1		NA																	0				skin(1)	1						c.(175-177)TTA>ATA		decapping enzyme Dcp1b							71.0	69.0	70.0					12																	2107117		2201	4297	6498	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2107117A>T	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.175T>A	12.37:g.2107117A>T	ENSP00000280665:p.Leu59Ile					DCP1B_uc010sdy.1_5'UTR|DCP1B_uc010sdz.1_Missense_Mutation_p.L59I	p.L59I	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		2	255	-			59					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.175T>A	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.247072	0.80024	.	.	ENSG00000151065	ENST00000280665;ENST00000541700;ENST00000535873	T	0.38887	1.11	5.97	2.53	0.30540	.	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	0.987;1.0	D;D	0.91635	0.949;0.999	T	0.66069	-0.6015	10	0.87932	D	0	-0.0399	6.5715	0.22541	0.4258:0.0:0.5742:0.0	.	59;59	B4DVJ6;Q8IZD4	.;DCP1B_HUMAN	I	59;86;59	ENSP00000280665:L59I	ENSP00000280665:L59I	L	-	1	2	DCP1B	1977378	0.997000	0.39634	0.996000	0.52242	0.996000	0.88848	2.821000	0.48065	0.510000	0.28216	0.528000	0.53228	TTA		0.308	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		7	81	0	0	0	0	7	81				
A2M	2	broad.mit.edu	37	12	9251236	9251236	+	Silent	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr12:9251236G>A	ENST00000318602.7	-	15	2125	c.1818C>T	c.(1816-1818)ctC>ctT	p.L606L		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	606					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CAGGCTTCATGAGCAGCACGC	0.617																																						uc001qvk.1		NA																	0				central_nervous_system(4)|skin(1)	5						c.(1816-1818)CTC>CTT		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						39.0	38.0	38.0					12																	9251236		2203	4300	6503	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9251236G>A	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1818C>T	12.37:g.9251236G>A						A2M_uc009zgk.1_Silent_p.L456L	p.L606L	NM_000014	NP_000005	P01023	A2MG_HUMAN			15	1931	-			606					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.1818C>T	CCDS44827.1																																																																																				0.617	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		3	17	0	0	0	0	3	17				
CAPRIN2	65981	broad.mit.edu	37	12	30869532	30869532	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr12:30869532G>C	ENST00000395805.2	-	13	2816	c.2269C>G	c.(2269-2271)Caa>Gaa	p.Q757E	CAPRIN2_ENST00000251071.5_Missense_Mutation_p.Q792E|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.Q743E|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.Q792E|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.Q459E	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GTAAAACTTTGATTGTAGCCA	0.408																																						uc001rji.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2374-2376)CAA>GAA		C1q domain containing 1 isoform 1							397.0	383.0	388.0					12																	30869532		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30869532G>C	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.2269C>G	12.37:g.30869532G>C	ENSP00000379150:p.Gln757Glu					CAPRIN2_uc001rjf.1_Missense_Mutation_p.Q589E|CAPRIN2_uc001rjg.1_Missense_Mutation_p.Q459E|CAPRIN2_uc001rjh.1_Missense_Mutation_p.Q743E|CAPRIN2_uc001rjj.1_Missense_Mutation_p.Q459E|CAPRIN2_uc001rjk.3_Missense_Mutation_p.Q792E|CAPRIN2_uc001rjl.3_Missense_Mutation_p.Q757E|CAPRIN2_uc001rjm.1_Missense_Mutation_p.Q424E	p.Q792E	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN			14	3125	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		792						Missense_Mutation	SNP	ENST00000395805.2	37	c.2374C>G	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.565738	0.65651	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000438006	T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	4.76	4.76	0.60689	.	0.499044	0.21249	N	0.077679	D	0.88306	0.6401	M	0.70595	2.14	0.37351	D	0.910782	D;D;D;D;B;D	0.71674	0.99;0.992;0.998;0.983;0.264;0.964	D;P;D;P;B;P	0.72982	0.979;0.866;0.915;0.835;0.055;0.785	D	0.90990	0.4834	10	0.72032	D	0.01	-8.409	14.3016	0.66357	0.0:0.1492:0.8507:0.0	.	483;757;792;792;743;792	E9PAU5;Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;.;CAPR2_HUMAN;.;.	E	538;743;757;792;459;792;483	ENSP00000415407:Q538E;ENSP00000298892:Q743E;ENSP00000379150:Q757E;ENSP00000251071:Q792E;ENSP00000309785:Q459E;ENSP00000391479:Q792E	ENSP00000251071:Q792E	Q	-	1	0	CAPRIN2	30760799	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	4.718000	0.61930	2.188000	0.69820	0.655000	0.94253	CAA		0.408	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		14	190	0	0	0	0	14	190				
ANO6	196527	broad.mit.edu	37	12	45782051	45782051	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr12:45782051C>G	ENST00000320560.8	+	11	1475	c.1273C>G	c.(1273-1275)Cga>Gga	p.R425G	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Missense_Mutation_p.R425G|ANO6_ENST00000423947.3_Missense_Mutation_p.R446G|ANO6_ENST00000441606.2_Missense_Mutation_p.R407G|ANO6_ENST00000425752.2_Missense_Mutation_p.R425G	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	425					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATACGAAGCACGATGTACTCA	0.463																																						uc001roo.2		NA																	0				ovary(1)|kidney(1)	2						c.(1273-1275)CGA>GGA		anoctamin 6 isoform a							191.0	176.0	181.0					12																	45782051		2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45782051C>G	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.1273C>G	12.37:g.45782051C>G	ENSP00000320087:p.Arg425Gly					ANO6_uc010sld.1_Missense_Mutation_p.R425G|ANO6_uc010sle.1_Missense_Mutation_p.R425G|ANO6_uc010slf.1_Missense_Mutation_p.R446G|ANO6_uc010slg.1_Missense_Mutation_p.R407G	p.R425G	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN			11	1608	+			425			Cytoplasmic (Potential).		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.1273C>G	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436765	0.62955	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	4.6	4.6	0.57074	.	0.467553	0.24018	N	0.042308	T	0.70762	0.3261	M	0.69823	2.125	0.32710	N	0.511666	B;B;P;P	0.49253	0.263;0.203;0.793;0.921	B;B;P;P	0.54140	0.231;0.231;0.477;0.743	T	0.78339	-0.2242	10	0.49607	T	0.09	.	12.2281	0.54472	0.2929:0.7071:0.0:0.0	.	407;446;425;425	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	G	425;446;425;425;407	ENSP00000391417:R425G;ENSP00000409126:R446G;ENSP00000413840:R425G;ENSP00000320087:R425G;ENSP00000413137:R407G	ENSP00000320087:R425G	R	+	1	2	ANO6	44068318	0.022000	0.18835	0.980000	0.43619	0.984000	0.73092	1.538000	0.36094	2.490000	0.84030	0.655000	0.94253	CGA		0.463	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		10	120	0	0	0	0	10	120				
CRY1	1407	broad.mit.edu	37	12	107393445	107393445	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr12:107393445C>G	ENST00000008527.5	-	7	1888	c.1021G>C	c.(1021-1023)Gat>Cat	p.D341H		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	341					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ATGATGGCATCAATCCATGGA	0.493																																						uc001tmi.3		NA																	0				ovary(3)	3						c.(1021-1023)GAT>CAT		cryptochrome 1 (photolyase-like)							88.0	80.0	83.0					12																	107393445		2203	4300	6503	SO:0001583	missense	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107393445C>G	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.1021G>C	12.37:g.107393445C>G	ENSP00000008527:p.Asp341His						p.D341H	NM_004075	NP_004066	Q16526	CRY1_HUMAN			7	1880	-			341			FAD-binding.			Missense_Mutation	SNP	ENST00000008527.5	37	c.1021G>C	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.964806	0.92791	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.79	5.79	0.91817	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90923	0.7147	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93676	0.6994	9	0.87932	D	0	-24.1612	20.0308	0.97536	0.0:1.0:0.0:0.0	.	341	Q16526	CRY1_HUMAN	H	341	.	ENSP00000008527:D341H	D	-	1	0	CRY1	105917575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.732000	0.93576	0.585000	0.79938	GAT		0.493	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		4	61	0	0	0	0	4	61				
KDM2B	84678	broad.mit.edu	37	12	121867998	121867998	+	3'UTR	SNP	G	G	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr12:121867998G>T	ENST00000377071.4	-	0	4176				KDM2B_ENST00000542973.1_Intron|KDM2B_ENST00000536437.1_3'UTR|RNF34_ENST00000392464.2_Missense_Mutation_p.V409F|KDM2B_ENST00000377069.4_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B						embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GTGGTCTGTTGTCCCACGTTC	0.473																																						uc001uam.1		NA																	0					0						c.(1225-1227)GTC>TTC		ring finger protein 34 isoform 2							102.0	100.0	101.0					12																	121867998		1883	4102	5985	SO:0001624	3_prime_UTR_variant	80196				apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding	g.chr12:121867998G>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.*93C>A	12.37:g.121867998G>T						KDM2B_uc001uaq.2_Intron|KDM2B_uc010szy.1_3'UTR|KDM2B_uc001uar.2_Intron|KDM2B_uc001uas.2_Intron|KDM2B_uc001uat.2_3'UTR|KDM2B_uc001uau.2_3'UTR|KDM2B_uc001uao.2_Intron|KDM2B_uc010szx.1_3'UTR|KDM2B_uc001uap.2_Intron	p.V409F	NM_025126	NP_079402	Q969K3	RNF34_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)	7	1339	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		Error:Variant_position_missing_in_Q969K3_after_alignment					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.1225G>T	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	3.455	-0.111165	0.06881	.	.	ENSG00000170633	ENST00000392464	T	0.37584	1.19	5.54	3.48	0.39840	.	.	.	.	.	T	0.26231	0.0640	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.16778	-1.0391	5	.	.	.	.	4.4583	0.11654	0.3471:0.0:0.6529:0.0	.	.	.	.	F	409	ENSP00000376257:V409F	.	V	+	1	0	RNF34	120352381	0.941000	0.31946	0.170000	0.22879	0.389000	0.30415	1.655000	0.37345	1.344000	0.45657	0.655000	0.94253	GTC		0.473	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		8	79	1	0	0.000157383	0.00017395	8	79				
NBEA	26960	broad.mit.edu	37	13	36229804	36229804	+	Silent	SNP	C	C	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr13:36229804C>T	ENST00000400445.3	+	54	8751	c.8217C>T	c.(8215-8217)atC>atT	p.I2739I	NBEA_ENST00000537702.1_Silent_p.I532I|NBEA_ENST00000310336.4_Silent_p.I2739I|NBEA_ENST00000379922.3_Silent_p.I317I|NBEA_ENST00000540320.1_Silent_p.I2739I|NBEA_ENST00000379939.2_Silent_p.I2736I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2739					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACTGCTACATCGTGTCCGGAT	0.512																																						uc001uvb.2		NA																	0				ovary(9)|large_intestine(2)	11						c.(8215-8217)ATC>ATT		neurobeachin							175.0	178.0	177.0					13																	36229804		2094	4240	6334	SO:0001819	synonymous_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36229804C>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.8217C>T	13.37:g.36229804C>T						NBEA_uc010abi.2_Silent_p.I1395I|NBEA_uc010tef.1_Silent_p.I532I|NBEA_uc001uvd.2_Silent_p.I317I	p.I2739I	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	54	8423	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2739			WD 2.		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	c.8217C>T	CCDS45026.1																																																																																				0.512	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		5	126	0	0	0	0	5	126				
HEATR5A	25938	broad.mit.edu	37	14	31774252	31774252	+	Missense_Mutation	SNP	G	G	A	rs532581649		TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr14:31774252G>A	ENST00000389961.3	-	31	5079	c.5080C>T	c.(5080-5082)Ctc>Ttc	p.L1694F	HEATR5A_ENST00000439348.1_Missense_Mutation_p.L1694F|HEATR5A_ENST00000543095.2_Missense_Mutation_p.L1700F|RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439727.1_Missense_Mutation_p.L1407F			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1694										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AATTCTGGGAGCTGTCTAACT	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		17304	0.0		0.0	False		,,,				2504	0.001					uc001wrf.3		NA																	0				ovary(1)	1						c.(4219-4221)CTC>TTC		HEAT repeat containing 5A							139.0	134.0	136.0					14																	31774252		1879	4129	6008	SO:0001583	missense	25938						binding	g.chr14:31774252G>A	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.5080C>T	14.37:g.31774252G>A	ENSP00000374611:p.Leu1694Phe					HEATR5A_uc010ami.2_Missense_Mutation_p.L1305F	p.L1407F	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	26	4296	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1694					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.4219C>T		.	.	.	.	.	.	.	.	.	.	G	21.5	4.160456	0.78226	.	.	ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.92	5.02	0.67125	.	0.061027	0.64402	D	0.000005	T	0.54334	0.1852	L	0.28192	0.835	0.80722	D	1	D	0.57899	0.981	P	0.60541	0.876	T	0.57545	-0.7793	10	0.62326	D	0.03	.	9.8045	0.40783	0.069:0.0:0.7899:0.141	.	1694	Q86XA9-2	.	F	1694;1694;1407;1700	ENSP00000374611:L1694F;ENSP00000405407:L1694F;ENSP00000408681:L1407F;ENSP00000437968:L1700F	ENSP00000374611:L1694F	L	-	1	0	HEATR5A	30844003	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	3.125000	0.50469	1.496000	0.48567	0.655000	0.94253	CTC		0.448	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		16	108	0	0	0	0	16	108				
CCDC88C	440193	broad.mit.edu	37	14	91780018	91780018	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr14:91780018C>G	ENST00000389857.6	-	15	2228	c.2142G>C	c.(2140-2142)gaG>gaC	p.E714D		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	714					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)	p.E714E(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGCGCATGGTCTCCACCAGCC	0.602																																						uc010aty.2		NA																	2	Substitution - coding silent(2)		large_intestine(2)	ovary(3)	3						c.(2140-2142)GAG>GAC		DVL-binding protein DAPLE							55.0	57.0	56.0					14																	91780018		2159	4269	6428	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91780018C>G		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.2142G>C	14.37:g.91780018C>G	ENSP00000374507:p.Glu714Asp						p.E714D	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN			15	2241	-		all_cancers(154;0.0468)	714			Potential.		Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.2142G>C	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501574	0.44455	.	.	ENSG00000015133	ENST00000389857	T	0.21734	1.99	5.15	5.15	0.70609	.	0.000000	0.49305	U	0.000158	T	0.34513	0.0900	M	0.73372	2.23	0.80722	D	1	P	0.51147	0.942	P	0.51016	0.656	T	0.12142	-1.0559	10	0.72032	D	0.01	-27.2312	12.0407	0.53452	0.0:0.9211:0.0:0.0789	.	714	Q9P219	DAPLE_HUMAN	D	714	ENSP00000374507:E714D	ENSP00000374507:E714D	E	-	3	2	CCDC88C	90849771	0.881000	0.30235	0.985000	0.45067	0.216000	0.24613	1.134000	0.31442	2.397000	0.81536	0.561000	0.74099	GAG		0.602	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		6	75	0	0	0	0	6	75				
VRK1	7443	broad.mit.edu	37	14	97321591	97321591	+	Missense_Mutation	SNP	C	C	T	rs144600646		TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr14:97321591C>T	ENST00000216639.3	+	8	756	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	203	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Golgi disassembly (GO:0090166)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-T3 phosphorylation (GO:0072355)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi stack (GO:0005795)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H3-S10 specific) (GO:0035175)|histone kinase activity (H3-T3 specific) (GO:0072354)|nucleosomal histone binding (GO:0031493)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		CCTTGCTTATCGGTACTGCCC	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		17954	0.0		0.001	False		,,,				2504	0.0					uc001yft.2		NA																	0				large_intestine(1)|stomach(1)	2						c.(607-609)CGG>TGG		vaccinia related kinase 1		C	TRP/ARG	0,4406		0,0,2203	185.0	179.0	181.0		607	5.9	1.0	14	dbSNP_134	181	2,8598	2.2+/-6.3	0,2,4298	yes	missense	VRK1	NM_003384.2	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	203/397	97321591	2,13004	2203	4300	6503	SO:0001583	missense	7443					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:97321591C>T	AB000449	CCDS9947.1	14q32.2	2012-07-05			ENSG00000100749	ENSG00000100749			12718	protein-coding gene	gene with protein product		602168				9344656	Standard	XM_006720247		Approved		uc001yft.3	Q99986	OTTHUMG00000171459	ENST00000216639.3:c.607C>T	14.37:g.97321591C>T	ENSP00000216639:p.Arg203Trp						p.R203W	NM_003384	NP_003375	Q99986	VRK1_HUMAN		COAD - Colon adenocarcinoma(157;0.234)	8	713	+		Melanoma(154;0.155)	203			Protein kinase.		Q3SYL2	Missense_Mutation	SNP	ENST00000216639.3	37	c.607C>T	CCDS9947.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	24.0|24.0	4.482616|4.482616	0.84747|0.84747	0.0|0.0	2.33E-4|2.33E-4	ENSG00000100749|ENSG00000100749	ENST00000216639|ENST00000557222	T|.	0.07216|.	3.21|.	5.95|5.95	5.95|5.95	0.96441|0.96441	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80082|0.80082	0.4558|0.4558	M|M	0.87456|0.87456	2.885|2.885	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.82055|0.82055	-0.0647|-0.0647	10|5	0.87932|.	D|.	0|.	-18.5289|-18.5289	15.1269|15.1269	0.72489|0.72489	0.1414:0.8586:0.0:0.0|0.1414:0.8586:0.0:0.0	.|.	203|.	Q99986|.	VRK1_HUMAN|.	W|L	203|59	ENSP00000216639:R203W|.	ENSP00000216639:R203W|.	R|S	+|+	1|2	2|0	VRK1|VRK1	96391344|96391344	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.981000|4.981000	0.63819|0.63819	2.811000|2.811000	0.96726|0.96726	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.408	VRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413520.1	NM_003384		7	103	0	0	0	0	7	103				
RNF40	9810	broad.mit.edu	37	16	30777510	30777510	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr16:30777510G>C	ENST00000324685.6	+	9	1455	c.1020G>C	c.(1018-1020)gaG>gaC	p.E340D	RNF40_ENST00000402121.3_Intron|RNF40_ENST00000357890.5_Intron|RNF40_ENST00000563683.1_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	340					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CAGAGTTAGAGGAAAACCAGG	0.592																																						uc002dzq.2		NA																	0				central_nervous_system(1)	1						c.(1018-1020)GAG>GAC		ring finger protein 40							68.0	72.0	71.0					16																	30777510		2197	4300	6497	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30777510G>C	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1020G>C	16.37:g.30777510G>C	ENSP00000325677:p.Glu340Asp					RNF40_uc010caa.2_Missense_Mutation_p.E340D|RNF40_uc010cab.2_Intron|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.E340D|RNF40_uc010vfb.1_Intron|RNF40_uc010vfc.1_5'Flank	p.E340D	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		9	1143	+			340			Potential.		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.1020G>C	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826075	0.50739	.	.	ENSG00000103549	ENST00000324685;ENST00000452273	T	0.32515	1.45	5.8	-0.377	0.12501	.	0.048551	0.85682	D	0.000000	T	0.19406	0.0466	L	0.38175	1.15	0.80722	D	1	B;B	0.19200	0.034;0.034	B;B	0.18561	0.022;0.022	T	0.04281	-1.0963	10	0.51188	T	0.08	-16.5136	5.7306	0.18038	0.496:0.0:0.3727:0.1313	.	340;340	A8K6K1;O75150	.;BRE1B_HUMAN	D	340;189	ENSP00000325677:E340D	ENSP00000325677:E340D	E	+	3	2	RNF40	30685011	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	0.637000	0.24659	0.057000	0.16193	0.462000	0.41574	GAG		0.592	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		5	92	0	0	0	0	5	92				
HPR	3250	broad.mit.edu	37	16	72108189	72108189	+	Missense_Mutation	SNP	G	G	A	rs374484725		TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr16:72108189G>A	ENST00000540303.2	+	3	130	c.98G>A	c.(97-99)cGc>cAc	p.R33H	HPR_ENST00000356967.5_Missense_Mutation_p.R33H|HPR_ENST00000561690.1_Missense_Mutation_p.R33H|HPR_ENST00000228226.8_Missense_Mutation_p.R70H	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	33						blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GCAGATGACCGCTTCCCGAAG	0.483																																						uc002fby.2		NA																	0				central_nervous_system(1)	1						c.(97-99)CGC>CAC		haptoglobin-related protein precursor		G	HIS/ARG	1,3817		0,1,1908	172.0	107.0	128.0		98	1.2	0.7	16		128	1,8239		0,1,4119	no	missense	HPR	NM_020995.3	29	0,2,6027	AA,AG,GG		0.0121,0.0262,0.0166	possibly-damaging	33/349	72108189	2,12056	1909	4120	6029	SO:0001583	missense	3250				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72108189G>A	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.98G>A	16.37:g.72108189G>A	ENSP00000441828:p.Arg33His					TXNL4B_uc010cgl.2_Intron	p.R33H	NM_020995	NP_066275	P00739	HPTR_HUMAN			3	128	+		Ovarian(137;0.125)	33					Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	ENST00000540303.2	37	c.98G>A	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	G	7.936	0.741759	0.15642	2.62E-4	1.21E-4	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.88509	-2.36;-2.36;-2.39	2.36	1.2	0.21068	.	0.711220	0.13497	N	0.383534	T	0.77831	0.4189	L	0.34521	1.04	0.22424	N	0.999113	P	0.38370	0.628	B	0.30401	0.115	T	0.68796	-0.5314	10	0.45353	T	0.12	.	5.5301	0.16980	0.0:0.0:0.6729:0.3271	.	33	P00739	HPTR_HUMAN	H	33;33;70	ENSP00000349451:R33H;ENSP00000441828:R33H;ENSP00000228226:R70H	ENSP00000228226:R70H	R	+	2	0	HP	70665690	0.992000	0.36948	0.698000	0.30274	0.004000	0.04260	1.133000	0.31430	1.318000	0.45170	0.194000	0.17425	CGC		0.483	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995		12	75	0	0	0	0	12	75				
DPEP1	1800	broad.mit.edu	37	16	89696859	89696859	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr16:89696859G>A	ENST00000393092.3	+	2	332	c.41G>A	c.(40-42)tGc>tAc	p.C14Y	DPEP1_ENST00000421184.1_Missense_Mutation_p.C14Y|DPEP1_ENST00000261615.4_Missense_Mutation_p.C14Y	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	14					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GTGGCCGTCTGCACTGCAGAC	0.632																																						uc010cin.2		NA																	0				large_intestine(1)	1						c.(40-42)TGC>TAC		dipeptidase 1 precursor	Cilastatin(DB01597)						78.0	75.0	76.0					16																	89696859		2198	4300	6498	SO:0001583	missense	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89696859G>A		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.41G>A	16.37:g.89696859G>A	ENSP00000376807:p.Cys14Tyr					DPEP1_uc002fnr.3_Missense_Mutation_p.C14Y|DPEP1_uc002fns.3_Missense_Mutation_p.C14Y	p.C14Y	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	2	244	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	14					D3DX80|Q96AK2	Missense_Mutation	SNP	ENST00000393092.3	37	c.41G>A	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	G	6.477	0.456227	0.12283	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.22336	1.96;1.96;1.96	3.81	3.81	0.43845	.	0.366514	0.30501	N	0.009491	T	0.24586	0.0596	M	0.66939	2.045	0.09310	N	1	B	0.17667	0.023	B	0.16722	0.016	T	0.13469	-1.0508	10	0.46703	T	0.11	-12.3979	13.6448	0.62275	0.0:0.0:1.0:0.0	.	14	P16444	DPEP1_HUMAN	Y	14	ENSP00000397313:C14Y;ENSP00000376807:C14Y;ENSP00000261615:C14Y	ENSP00000261615:C14Y	C	+	2	0	DPEP1	88224360	0.742000	0.28228	0.063000	0.19743	0.006000	0.05464	2.906000	0.48735	2.418000	0.82041	0.650000	0.86243	TGC		0.632	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141		10	72	0	0	0	0	10	72				
TP53	7157	broad.mit.edu	37	17	7577098	7577098	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr17:7577098T>G	ENST00000269305.4	-	8	1029	c.840A>C	c.(838-840)agA>agC	p.R280S	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R280S|TP53_ENST00000445888.2_Missense_Mutation_p.R280S|TP53_ENST00000359597.4_Missense_Mutation_p.R280S|TP53_ENST00000455263.2_Missense_Mutation_p.R280S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R280S(15)|p.0?(8)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGCGCCGGTCTCTCCCAGGAC	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		43	Substitution - Missense(15)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Substitution - coding silent(3)|Unknown(2)	p.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.D281fs*24(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.D281_R282delDR(1)	upper_aerodigestive_tract(8)|urinary_tract(8)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|breast(4)|bone(4)|stomach(2)|central_nervous_system(2)|lung(2)|ovary(2)|liver(2)|large_intestine(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(838-840)AGA>AGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							79.0	68.0	72.0					17																	7577098		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577098T>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.840A>C	17.37:g.7577098T>G	ENSP00000269305:p.Arg280Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148S|TP53_uc010cng.1_Missense_Mutation_p.R148S|TP53_uc002gii.1_Missense_Mutation_p.R148S|TP53_uc010cnh.1_Missense_Mutation_p.R280S|TP53_uc010cni.1_Missense_Mutation_p.R280S|TP53_uc002gij.2_Missense_Mutation_p.R280S	p.R280S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1034	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	280		R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.840A>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.178831	0.78564	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99865	-7.29;-7.29;-7.29;-7.29;-7.29;-7.29	5.13	2.88	0.33553	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.92649	3.33	0.58432	D	0.999997	P;D;D;P	0.89917	0.953;1.0;0.984;0.837	P;D;P;P	0.97110	0.876;1.0;0.875;0.877	D	0.98376	1.0556	10	0.87932	D	0	-21.0303	6.3042	0.21129	0.0:0.3109:0.0:0.6891	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	S	280;280;280;280;280;269;148	ENSP00000352610:R280S;ENSP00000269305:R280S;ENSP00000398846:R280S;ENSP00000391127:R280S;ENSP00000391478:R280S;ENSP00000425104:R148S	ENSP00000269305:R280S	R	-	3	2	TP53	7517823	0.663000	0.27448	1.000000	0.80357	0.977000	0.68977	-0.234000	0.09028	0.415000	0.25817	0.379000	0.24179	AGA		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	36	0	0	0	0	5	36				
MYH2	4620	broad.mit.edu	37	17	10427914	10427914	+	Missense_Mutation	SNP	G	G	A	rs568249919		TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr17:10427914G>A	ENST00000245503.5	-	35	5428	c.5044C>T	c.(5044-5046)Cgc>Tgc	p.R1682C	MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1682C|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1682					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTGGCTCTGCGCTCCACCATG	0.567													g|||	1	0.000199681	0.0	0.0014	5008	,	,		17886	0.0		0.0	False		,,,				2504	0.0					uc010coi.2		NA																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(5044-5046)CGC>TGC		myosin heavy chain IIa							96.0	86.0	89.0					17																	10427914		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10427914G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5044C>T	17.37:g.10427914G>A	ENSP00000245503:p.Arg1682Cys					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1682C|MYH2_uc010coj.2_Intron	p.R1682C	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			35	5172	-			1682			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.5044C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078223	0.76528	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.82167	-1.58;-1.58	5.31	5.31	0.75309	Myosin tail (1);	0.000000	0.35646	U	0.003061	D	0.94945	0.8365	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96490	0.9363	10	0.87932	D	0	.	19.1555	0.93509	0.0:0.0:1.0:0.0	.	1682	Q9UKX2	MYH2_HUMAN	C	1682	ENSP00000245503:R1682C;ENSP00000380367:R1682C	ENSP00000245503:R1682C	R	-	1	0	MYH2	10368639	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.542000	0.53625	2.755000	0.94549	0.491000	0.48974	CGC		0.567	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		6	58	0	0	0	0	6	58				
COL1A1	1277	broad.mit.edu	37	17	48273002	48273002	+	Nonsense_Mutation	SNP	G	G	A	rs72645366		TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr17:48273002G>A	ENST00000225964.5	-	17	1199	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	361	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TCAGAGCCTCGGGGCCCTTGG	0.637			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta				OREG0024559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002iqm.2		NA		Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst 	COL1A1/PDGFB(372)	0				soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382	GRCh37	CM980390	COL1A1	M	rs72645366	c.(1081-1083)CGA>TGA		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						28.0	33.0	32.0					17																	48273002		2203	4300	6503	SO:0001587	stop_gained	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48273002G>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1081C>T	17.37:g.48273002G>A	ENSP00000225964:p.Arg361*		OREG0024559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	953		p.R361*	NM_000088	NP_000079	P02452	CO1A1_HUMAN			17	1207	-			361			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Nonsense_Mutation	SNP	ENST00000225964.5	37	c.1081C>T	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	40	8.035182	0.98621	.	.	ENSG00000108821	ENST00000225964	.	.	.	5.61	4.63	0.57726	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0275	0.71680	0.0:0.0:0.8568:0.1431	.	.	.	.	X	361	.	ENSP00000225964:R361X	R	-	1	2	COL1A1	45628001	1.000000	0.71417	0.997000	0.53966	0.852000	0.48524	4.824000	0.62701	1.348000	0.45733	0.557000	0.71058	CGA		0.637	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			3	39	0	0	0	0	3	39				
ASXL3	80816	broad.mit.edu	37	18	31326305	31326305	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr18:31326305A>C	ENST00000269197.5	+	12	6493	c.6493A>C	c.(6493-6495)Aaa>Caa	p.K2165Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CACGAGTTTCAAAAGGGCAGC	0.468																																						uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(6493-6495)AAA>CAA		additional sex combs like 3							148.0	152.0	151.0					18																	31326305		1901	4118	6019	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31326305A>C	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.6493A>C	18.37:g.31326305A>C	ENSP00000269197:p.Lys2165Gln					ASXL3_uc002kxq.2_Missense_Mutation_p.K1872Q	p.K2165Q	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	6548	+			2165					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.6493A>C	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.926728	0.52759	.	.	ENSG00000141431	ENST00000269197	T	0.16597	2.33	6.17	6.17	0.99709	.	.	.	.	.	T	0.15305	0.0369	N	0.24115	0.695	0.41685	D	0.98931	P	0.46706	0.883	B	0.41571	0.36	T	0.01596	-1.1316	9	0.51188	T	0.08	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	2165	Q9C0F0	ASXL3_HUMAN	Q	2165	ENSP00000269197:K2165Q	ENSP00000269197:K2165Q	K	+	1	0	ASXL3	29580303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.582000	0.67477	2.371000	0.80710	0.533000	0.62120	AAA		0.468	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			10	140	0	0	0	0	10	140				
KIAA1328	57536	broad.mit.edu	37	18	34539358	34539358	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr18:34539358C>G	ENST00000280020.5	+	6	558	c.536C>G	c.(535-537)tCt>tGt	p.S179C	KIAA1328_ENST00000591619.1_Missense_Mutation_p.S175C|KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000543923.1_Missense_Mutation_p.S71C|KIAA1328_ENST00000586135.1_Intron	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	179										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CTCACCATGTCTCTCTCAGAA	0.408																																						uc002kzz.2		NA																	0				central_nervous_system(1)	1						c.(535-537)TCT>TGT		hypothetical protein LOC57536							90.0	86.0	87.0					18																	34539358		1859	4105	5964	SO:0001583	missense	57536							g.chr18:34539358C>G	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.536C>G	18.37:g.34539358C>G	ENSP00000280020:p.Ser179Cys					KIAA1328_uc002lab.2_Intron|KIAA1328_uc002lac.1_Missense_Mutation_p.S2C|KIAA1328_uc010dnc.1_RNA	p.S179C	NM_020776	NP_065827	Q86T90	K1328_HUMAN		COAD - Colon adenocarcinoma(74;0.195)	6	558	+			179					Q05DL0|Q49AG6|Q9P2L8	Missense_Mutation	SNP	ENST00000280020.5	37	c.536C>G	CCDS45855.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888634	0.72524	.	.	ENSG00000150477	ENST00000543923;ENST00000280020;ENST00000383055	T;T	0.63417	-0.04;-0.04	5.57	5.57	0.84162	.	0.121727	0.56097	D	0.000022	T	0.77329	0.4114	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78293	-0.2260	10	0.87932	D	0	.	18.1625	0.89714	0.0:1.0:0.0:0.0	.	179;179	A8K8C3;Q86T90	.;K1328_HUMAN	C	71;179;179	ENSP00000441359:S71C;ENSP00000280020:S179C	ENSP00000280020:S179C	S	+	2	0	KIAA1328	32793356	1.000000	0.71417	0.996000	0.52242	0.829000	0.46940	4.696000	0.61774	2.789000	0.95967	0.650000	0.86243	TCT		0.408	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		2	16	0	0	0	0	2	16				
ZNF236	7776	broad.mit.edu	37	18	74580734	74580734	+	Missense_Mutation	SNP	C	C	T	rs375463473		TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr18:74580734C>T	ENST00000253159.8	+	4	649	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	ZNF236_ENST00000583095.1_3'UTR|ZNF236_ENST00000320610.9_Missense_Mutation_p.R153W	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	151					cellular response to glucose stimulus (GO:0071333)|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)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGCTGGAACCCGGCAGCATGC	0.522																																						uc002lmi.2		NA																	0				ovary(4)	4						c.(451-453)CGG>TGG		zinc finger protein 236		C	TRP/ARG	0,4058		0,0,2029	101.0	108.0	106.0		451	5.4	0.2	18		106	1,8383		0,1,4191	no	missense	ZNF236	NM_007345.3	101	0,1,6220	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	151/1846	74580734	1,12441	2029	4192	6221	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74580734C>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.451C>T	18.37:g.74580734C>T	ENSP00000253159:p.Arg151Trp					ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.R151W	p.R151W	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	4	649	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	151					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.451C>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150383	0.37923	0.0	1.19E-4	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.17854	2.25;2.25	5.37	5.37	0.77165	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.184267	0.35903	N	0.002910	T	0.48768	0.1518	M	0.94142	3.5	0.09310	N	1	D;D	0.89917	1.0;0.999	P;P	0.61592	0.891;0.72	T	0.57294	-0.7836	10	0.87932	D	0	.	12.2792	0.54755	0.287:0.713:0.0:0.0	.	151;151	Q9NWI2;Q9UL36	.;ZN236_HUMAN	W	151	ENSP00000253159:R151W;ENSP00000444524:R151W	ENSP00000253159:R151W	R	+	1	2	ZNF236	72709722	0.953000	0.32496	0.192000	0.23308	0.070000	0.16714	2.046000	0.41260	2.501000	0.84356	0.563000	0.77884	CGG		0.522	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			7	133	0	0	0	0	7	133				
HCN2	610	broad.mit.edu	37	19	613894	613894	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr19:613894G>A	ENST00000251287.2	+	7	1921	c.1868G>A	c.(1867-1869)cGg>cAg	p.R623Q	AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	623					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGAGCGTGCGGGCTGACACC	0.716																																					Melanoma(145;1175 2427 8056 36306)	uc002lpe.2		NA																	0					0						c.(1867-1869)CGG>CAG		hyperpolarization activated cyclic							26.0	28.0	27.0					19																	613894		2195	4296	6491	SO:0001583	missense	610				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr19:613894G>A	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1868G>A	19.37:g.613894G>A	ENSP00000251287:p.Arg623Gln						p.R623Q	NM_001194	NP_001185	Q9UL51	HCN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1921	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	623			cAMP.|Cytoplasmic (Potential).		O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP	ENST00000251287.2	37	c.1868G>A	CCDS12035.1	.	.	.	.	.	.	.	.	.	.	.	14.59	2.579750	0.46006	.	.	ENSG00000099822	ENST00000251287	D	0.96992	-4.2	3.83	3.83	0.44106	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	.	.	.	.	D	0.94581	0.8254	L	0.48935	1.535	0.80722	D	1	D	0.54047	0.964	P	0.44772	0.46	D	0.95069	0.8202	9	0.72032	D	0.01	.	15.1504	0.72692	0.0:0.0:1.0:0.0	.	623	Q9UL51	HCN2_HUMAN	Q	623	ENSP00000251287:R623Q	ENSP00000251287:R623Q	R	+	2	0	HCN2	564894	1.000000	0.71417	0.970000	0.41538	0.100000	0.18952	7.201000	0.77847	1.876000	0.54355	0.425000	0.28330	CGG		0.716	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		4	34	0	0	0	0	4	34				
ZNF486	90649	broad.mit.edu	37	19	20295277	20295277	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr19:20295277A>C	ENST00000335117.8	+	2	200	c.143A>C	c.(142-144)cAc>cCc	p.H48P	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|ZNF486_ENST00000597083.1_Missense_Mutation_p.H48P	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	48	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AACTACAGACACCTGGTCTTC	0.363																																						uc002nou.2		NA																	0				ovary(1)	1						c.(142-144)CAC>CCC		zinc finger protein 486							109.0	136.0	127.0					19																	20295277		1508	2708	4216	SO:0001583	missense	90649				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20295277A>C	BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.143A>C	19.37:g.20295277A>C	ENSP00000335042:p.His48Pro						p.H48P	NM_052852	NP_443084	Q96H40	ZN486_HUMAN			2	200	+			48			KRAB.		Q0VG00	Missense_Mutation	SNP	ENST00000335117.8	37	c.143A>C	CCDS46029.1	.	.	.	.	.	.	.	.	.	.	a	7.277	0.608246	0.14002	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.01871	4.59	0.81	0.81	0.18732	Krueppel-associated box (4);	.	.	.	.	T	0.03305	0.0096	M	0.73319	2.225	0.09310	N	0.999997	B	0.02656	0.0	B	0.08055	0.003	T	0.38757	-0.9646	9	0.87932	D	0	.	3.7212	0.08457	1.0:0.0:0.0:0.0	.	48	Q96H40	ZN486_HUMAN	P	87;48	ENSP00000335042:H48P	ENSP00000335042:H48P	H	+	2	0	ZNF486	20156277	0.836000	0.29430	0.196000	0.23383	0.242000	0.25591	1.918000	0.40006	0.156000	0.19299	0.155000	0.16302	CAC		0.363	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2	NM_052852		11	161	0	0	0	0	11	161				
KLK12	43849	broad.mit.edu	37	19	51532606	51532606	+	Silent	SNP	A	A	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr19:51532606A>G	ENST00000525263.1	-	5	818	c.699T>C	c.(697-699)taT>taC	p.Y233Y	KLK11_ENST00000391804.3_5'Flank|KLK11_ENST00000594458.1_5'Flank|KLK11_ENST00000453757.3_5'Flank|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000529888.1_3'UTR|KLK11_ENST00000319720.7_5'Flank|KLK12_ENST00000250351.4_Silent_p.Y233Y|KLK12_ENST00000250352.11_Silent_p.Y123Y|KLK12_ENST00000319590.4_Silent_p.Y233Y|KLK11_ENST00000600362.1_5'Flank|KLK11_ENST00000594768.1_5'Flank			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	233	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		ACTTGCAAATATAGGTGTAGA	0.587																																						uc002pvg.1		NA																	0				ovary(1)	1						c.(697-699)TAT>TAC		kallikrein 12 isoform 2							132.0	126.0	128.0					19																	51532606		2203	4300	6503	SO:0001819	synonymous_variant	43849				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity	g.chr19:51532606A>G		CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"""Kallikreins"""	6360	protein-coding gene	gene with protein product		605539	"""kallikrein 12"""			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.699T>C	19.37:g.51532606A>G						KLK11_uc002pvd.1_5'Flank|KLK11_uc002pve.1_5'Flank|KLK11_uc002pvf.1_5'Flank|KLK11_uc002pvc.3_5'Flank|KLK11_uc010eom.2_5'Flank|KLK12_uc010ycp.1_RNA|KLK12_uc010ycq.1_Silent_p.Y123Y|KLK12_uc010ycr.1_Silent_p.Y123Y|KLK12_uc010ycs.1_Silent_p.Y123Y|KLK12_uc002pvh.1_Silent_p.Y233Y|KLK12_uc002pvi.1_Silent_p.Y233Y|KLK12_uc002pvj.1_3'UTR	p.Y233Y	NM_145894	NP_665901	Q9UKR0	KLK12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)	5	819	-		all_neural(266;0.026)	233			Peptidase S1.		Q9UKR1|Q9UKR2	Silent	SNP	ENST00000525263.1	37	c.699T>C	CCDS12821.1																																																																																				0.587	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386288.1	NM_019598		13	113	0	0	0	0	13	113				
PXDN	7837	broad.mit.edu	37	2	1652027	1652027	+	Silent	SNP	G	G	C			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr2:1652027G>C	ENST00000252804.4	-	17	3575	c.3525C>G	c.(3523-3525)gtC>gtG	p.V1175V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1175					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GATTGCAGTAGACCCTGTAGT	0.572																																						uc002qxa.2		NA																	0				pancreas(6)|ovary(2)	8						c.(3523-3525)GTC>GTG		peroxidasin precursor							116.0	123.0	121.0					2																	1652027		1999	4179	6178	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652027G>C	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3525C>G	2.37:g.1652027G>C							p.V1175V	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3589	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1175					A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.3525C>G	CCDS46221.1																																																																																				0.572	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		16	166	0	0	0	0	16	166				
GREB1	9687	broad.mit.edu	37	2	11767109	11767109	+	Missense_Mutation	SNP	C	C	T	rs201392710		TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr2:11767109C>T	ENST00000381486.2	+	25	4628	c.4328C>T	c.(4327-4329)cCg>cTg	p.P1443L	GREB1_ENST00000396123.1_Missense_Mutation_p.P441L|GREB1_ENST00000234142.5_Missense_Mutation_p.P1443L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1443						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCCCGGAAGCCGGAGGACCTT	0.532																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1		NA																	0				ovary(1)	1						c.(4327-4329)CCG>CTG		growth regulation by estrogen in breast cancer 1		C	LEU/PRO	0,4072		0,0,2036	70.0	75.0	74.0		4328	4.6	0.9	2		74	1,8361		0,1,4180	yes	missense	GREB1	NM_014668.3	98	0,1,6216	TT,TC,CC		0.012,0.0,0.0080	benign	1443/1950	11767109	1,12433	2036	4181	6217	SO:0001583	missense	9687					integral to membrane		g.chr2:11767109C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4328C>T	2.37:g.11767109C>T	ENSP00000370896:p.Pro1443Leu					GREB1_uc002rbp.1_Missense_Mutation_p.P441L	p.P1443L	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	25	4628	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1443					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.4328C>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485136	0.44147	0.0	1.2E-4	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.21932	3.31;3.31;1.98	5.58	4.63	0.57726	.	0.398122	0.30752	N	0.008958	T	0.15089	0.0364	L	0.29908	0.895	0.52099	D	0.999945	B	0.31351	0.32	B	0.29524	0.103	T	0.03829	-1.1000	10	0.45353	T	0.12	-26.6088	10.651	0.45649	0.3249:0.6751:0.0:0.0	.	1443	Q4ZG55	GREB1_HUMAN	L	1443;1443;441	ENSP00000370896:P1443L;ENSP00000234142:P1443L;ENSP00000379429:P441L	ENSP00000234142:P1443L	P	+	2	0	GREB1	11684560	0.915000	0.31059	0.870000	0.34147	0.338000	0.28826	2.503000	0.45407	2.624000	0.88883	0.655000	0.94253	CCG		0.532	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		4	65	0	0	0	0	4	65				
TTN	7273	broad.mit.edu	37	2	179439605	179439605	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr2:179439605C>T	ENST00000591111.1	-	276	66555	c.66331G>A	c.(66331-66333)Gag>Aag	p.E22111K	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E14879K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E23752K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E21184K|TTN_ENST00000359218.5_Missense_Mutation_p.E14812K|TTN_ENST00000460472.2_Missense_Mutation_p.E14687K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22111	Fibronectin type-III 60. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATCGTTCTCAGGTGGGTCC	0.453																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(63550-63552)GAG>AAG		titin isoform N2-A							55.0	53.0	54.0					2																	179439605		1911	4129	6040	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179439605C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66331G>A	2.37:g.179439605C>T	ENSP00000465570:p.Glu22111Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E14879K|TTN_uc010zfi.1_Missense_Mutation_p.E14812K|TTN_uc010zfj.1_Missense_Mutation_p.E14687K	p.E21184K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	63774	-			22111					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.63550G>A		.	.	.	.	.	.	.	.	.	.	C	8.404	0.842668	0.16963	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.69	4.8	0.61643	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39384	0.1076	L	0.28458	0.855	0.44937	D	0.997958	B;B;B;B	0.15719	0.012;0.012;0.012;0.014	B;B;B;B	0.19391	0.016;0.016;0.016;0.025	T	0.32955	-0.9887	9	0.87932	D	0	.	6.9082	0.24321	0.1352:0.6756:0.1177:0.0716	.	14687;14812;14879;22111	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	21184;14687;14879;14812;14685	ENSP00000343764:E21184K;ENSP00000434586:E14687K;ENSP00000340554:E14879K;ENSP00000352154:E14812K	ENSP00000340554:E14879K	E	-	1	0	TTN	179147851	0.999000	0.42202	1.000000	0.80357	0.321000	0.28281	3.469000	0.53093	1.387000	0.46486	0.650000	0.86243	GAG		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	21	0	0	0	0	5	21				
ERBB4	2066	broad.mit.edu	37	2	212587119	212587119	+	Splice_Site	SNP	T	T	C	rs77309171	byFrequency	TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr2:212587119T>C	ENST00000342788.4	-	7	1192	c.882A>G	c.(880-882)ccA>ccG	p.P294P	ERBB4_ENST00000484474.1_5'Flank|ERBB4_ENST00000402597.1_Splice_Site_p.P294P|ERBB4_ENST00000436443.1_Splice_Site_p.P294P	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	294	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GTTACTTACGTGGACATTTCT	0.313										TSP Lung(8;0.080)			T|||	10	0.00199681	0.0	0.0029	5008	,	,		16437	0.0		0.005	False		,,,				2504	0.0031					uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(880-882)CCA>CCG		v-erb-a erythroblastic leukemia viral oncogene		T	,	1,4405	2.1+/-5.4	0,1,2202	146.0	133.0	138.0		882,882	1.9	1.0	2	dbSNP_131	138	46,8554	30.1+/-81.4	0,46,4254	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	ERBB4	NM_001042599.1,NM_005235.2	,	0,47,6456	CC,CT,TT		0.5349,0.0227,0.3614	,	294/1293,294/1309	212587119	47,12959	2203	4300	6503	SO:0001630	splice_region_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212587119T>C	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.883+1A>G	2.37:g.212587119T>C		TSP Lung(8;0.080)				ERBB4_uc002veh.1_Silent_p.P294P|ERBB4_uc010zji.1_Silent_p.P294P|ERBB4_uc010zjj.1_Silent_p.P294P|ERBB4_uc010fut.1_Silent_p.P294P	p.P294P	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	7	980	-		Renal(323;0.06)|Lung NSC(271;0.197)	294			Cys-rich.|Extracellular (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.882A>G	CCDS2394.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	T	12.44	1.939839	0.34189	2.27E-4	0.005349	ENSG00000178568	ENST00000260943	.	.	.	5.67	1.89	0.25635	.	.	.	.	.	T	0.43765	0.1262	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29119	-1.0022	4	.	.	.	.	4.9983	0.14251	0.2313:0.1302:0.0:0.6385	.	.	.	.	R	294	.	.	H	-	2	0	ERBB4	212295364	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	0.474000	0.22148	0.078000	0.16900	-0.344000	0.07964	CAC		0.313	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	Silent	3	46	0	0	0	0	3	46				
ZNF335	63925	broad.mit.edu	37	20	44592204	44592204	+	Missense_Mutation	SNP	G	G	A	rs141481390		TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr20:44592204G>A	ENST00000322927.2	-	9	1541	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	ZNF335_ENST00000426788.1_Missense_Mutation_p.R326C	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	481					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ACGTGGAAGCGCAGGTCCTCG	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		19714	0.0		0.0	False		,,,				2504	0.001					uc002xqw.2		NA																	0				skin(3)|ovary(1)	4						c.(1441-1443)CGC>TGC		zinc finger protein 335							162.0	158.0	160.0					20																	44592204		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44592204G>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1441C>T	20.37:g.44592204G>A	ENSP00000325326:p.Arg481Cys					ZNF335_uc010zxk.1_Missense_Mutation_p.R326C	p.R481C	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN			9	1564	-		Myeloproliferative disorder(115;0.0122)	481			C2H2-type 2.		B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.1441C>T	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.209827	0.79240	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.30182	1.54;1.54	5.16	5.16	0.70880	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.117279	0.64402	N	0.000014	T	0.50429	0.1615	M	0.63169	1.94	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.71414	0.953;0.973	T	0.47560	-0.9108	10	0.56958	D	0.05	-34.7587	12.8538	0.57873	0.0:0.0:0.8373:0.1627	.	326;481	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	C	481;258;326	ENSP00000325326:R481C;ENSP00000397098:R326C	ENSP00000243961:R258C	R	-	1	0	ZNF335	44025611	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.651000	0.67951	2.676000	0.91093	0.655000	0.94253	CGC		0.587	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		8	154	0	0	0	0	8	154				
ZNF334	55713	broad.mit.edu	37	20	45131128	45131128	+	Nonsense_Mutation	SNP	G	G	A	rs202077322		TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr20:45131128G>A	ENST00000347606.4	-	5	1032	c.850C>T	c.(850-852)Cga>Tga	p.R284*	ZNF334_ENST00000593880.1_Nonsense_Mutation_p.R307*|ZNF334_ENST00000457685.2_Nonsense_Mutation_p.R246*	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	284					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)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGAATTCTTCGGTGTCGAGTG	0.418																																						uc002xsc.2		NA																	0				ovary(1)|pancreas(1)	2						c.(850-852)CGA>TGA		zinc finger protein 334 isoform a		G	stop/ARG,stop/ARG	0,4406		0,0,2203	112.0	111.0	111.0		850,736	2.2	0.2	20		111	3,8597	3.0+/-9.4	0,3,4297	yes	stop-gained,stop-gained	ZNF334	NM_018102.3,NM_199441.1	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	284/681,246/643	45131128	3,13003	2203	4300	6503	SO:0001587	stop_gained	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45131128G>A	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.850C>T	20.37:g.45131128G>A	ENSP00000255129:p.Arg284*					ZNF334_uc002xsa.2_Nonsense_Mutation_p.R307*|ZNF334_uc002xsb.2_Nonsense_Mutation_p.R246*|ZNF334_uc002xsd.2_Nonsense_Mutation_p.R246*|ZNF334_uc010ghl.2_Nonsense_Mutation_p.R283*	p.R284*	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN			5	1034	-		Myeloproliferative disorder(115;0.0122)	284			C2H2-type 2.		Q5T6U2|Q9NVW4	Nonsense_Mutation	SNP	ENST00000347606.4	37	c.850C>T	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	G	46	12.439312	0.99668	0.0	3.49E-4	ENSG00000198185	ENST00000457685;ENST00000347606	.	.	.	3.15	2.18	0.27775	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	10.1302	0.42674	0.0:0.2061:0.7939:0.0	.	.	.	.	X	246;284	.	ENSP00000255129:R284X	R	-	1	2	ZNF334	44564535	0.888000	0.30383	0.205000	0.23548	0.507000	0.33981	0.593000	0.23999	0.627000	0.30340	0.591000	0.81541	CGA		0.418	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			5	126	0	0	0	0	5	126				
ATG7	10533	broad.mit.edu	37	3	11389503	11389503	+	Silent	SNP	C	C	T	rs373763483		TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr3:11389503C>T	ENST00000354449.3	+	12	1303	c.1278C>T	c.(1276-1278)ccC>ccT	p.P426P	ATG7_ENST00000446450.2_Silent_p.P387P|ATG7_ENST00000354956.5_Silent_p.P426P	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	426					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)	p.P426P(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AAATATTCCCCGGTGTGGTAT	0.478																																						uc003bwc.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1276-1278)CCC>CCT		APG7 autophagy 7-like isoform a		C	,,	1,4405	2.1+/-5.4	0,1,2202	106.0	115.0	112.0		1278,1161,1278	-1.0	1.0	3		112	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ATG7	NM_001136031.2,NM_001144912.1,NM_006395.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	426/677,387/624,426/704	11389503	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11389503C>T	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.1278C>T	3.37:g.11389503C>T						ATG7_uc003bwd.2_Silent_p.P426P|ATG7_uc011aum.1_Silent_p.P387P	p.P426P	NM_006395	NP_006386	O95352	ATG7_HUMAN			12	1395	+			426					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Silent	SNP	ENST00000354449.3	37	c.1278C>T	CCDS2605.1																																																																																				0.478	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		8	123	0	0	0	0	8	123				
TGFBR2	7048	broad.mit.edu	37	3	30713559	30713559	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr3:30713559C>G	ENST00000295754.5	+	4	1266	c.884C>G	c.(883-885)tCa>tGa	p.S295*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.S320*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.S295*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GACATCTTCTCAGACATCAAT	0.493																																						uc003ceo.2		NA																	1	Substitution - Nonsense(1)		lung(1)	pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						c.(883-885)TCA>TGA		transforming growth factor, beta receptor II							123.0	115.0	118.0					3																	30713559		2203	4300	6503	SO:0001587	stop_gained	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713559C>G		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.884C>G	3.37:g.30713559C>G	ENSP00000295754:p.Ser295*					TGFBR2_uc003cen.2_Nonsense_Mutation_p.S320*	p.S295*	NM_003242	NP_003233	P37173	TGFR2_HUMAN			4	1266	+			295			Protein kinase.|Cytoplasmic (Potential).		B4DTV5|Q15580|Q6DKT6|Q99474	Nonsense_Mutation	SNP	ENST00000295754.5	37	c.884C>G	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	C	40	8.331796	0.98764	.	.	ENSG00000163513	ENST00000295754;ENST00000359013	.	.	.	5.02	5.02	0.67125	.	0.118890	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.3462	0.90322	0.0:1.0:0.0:0.0	.	.	.	.	X	295;320	.	ENSP00000295754:S295X	S	+	2	0	TGFBR2	30688563	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	5.947000	0.70242	2.317000	0.78254	0.655000	0.94253	TCA		0.493	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			9	77	0	0	0	0	9	77				
SLC22A14	9389	broad.mit.edu	37	3	38347718	38347718	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr3:38347718G>C	ENST00000273173.4	+	1	292	c.201G>C	c.(199-201)caG>caC	p.Q67H	RNU6-235P_ENST00000362644.1_RNA|SLC22A14_ENST00000448498.1_Missense_Mutation_p.Q67H	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	67					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CATTCCAGCAGAGGCTAGTAG	0.532																																						uc010hhc.1		NA																	0					0						c.(199-201)CAG>CAC		organic cation transporter like 4							168.0	133.0	145.0					3																	38347718		2203	4300	6503	SO:0001583	missense	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38347718G>C	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.201G>C	3.37:g.38347718G>C	ENSP00000273173:p.Gln67His					SLC22A14_uc003cia.2_Missense_Mutation_p.Q67H|SLC22A14_uc003cib.2_Missense_Mutation_p.Q67H|SLC22A14_uc011ayo.1_RNA	p.Q67H	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	2	243	+			67			Cytoplasmic (Potential).		A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	c.201G>C	CCDS2677.1	.	.	.	.	.	.	.	.	.	.	G	9.531	1.110829	0.20714	.	.	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	T;T	0.36157	1.27;1.27	5.62	2.58	0.30949	.	0.182306	0.46442	D	0.000289	T	0.16385	0.0394	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.22730	-1.0208	10	0.14656	T	0.56	.	4.834	0.13454	0.2555:0.0:0.5977:0.1468	.	67	Q9Y267	S22AE_HUMAN	H	67	ENSP00000396283:Q67H;ENSP00000273173:Q67H	ENSP00000273173:Q67H	Q	+	3	2	SLC22A14	38322722	0.984000	0.35163	0.594000	0.28785	0.455000	0.32408	1.264000	0.33015	0.309000	0.22966	0.655000	0.94253	CAG		0.532	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		10	85	0	0	0	0	10	85				
ACOX2	8309	broad.mit.edu	37	3	58514635	58514635	+	Silent	SNP	G	G	C			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr3:58514635G>C	ENST00000302819.5	-	9	1332	c.1041C>G	c.(1039-1041)ctC>ctG	p.L347L	ACOX2_ENST00000459701.2_Silent_p.L333L	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	347					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		GCTGAGGAAAGAGTTTCTGCT	0.488																																						uc003dkl.2		NA																	0					0						c.(1039-1041)CTC>CTG		acyl-Coenzyme A oxidase 2							142.0	134.0	137.0					3																	58514635		2203	4300	6503	SO:0001819	synonymous_variant	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58514635G>C	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1041C>G	3.37:g.58514635G>C							p.L347L	NM_003500	NP_003491	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	9	1216	-			347					A6NF16|B2R8U5	Silent	SNP	ENST00000302819.5	37	c.1041C>G	CCDS33775.1																																																																																				0.488	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			8	77	0	0	0	0	8	77				
GPR15	2838	broad.mit.edu	37	3	98251012	98251012	+	Silent	SNP	G	G	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr3:98251012G>T	ENST00000284311.3	+	1	270	c.135G>T	c.(133-135)ctG>ctT	p.L45L		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	45					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CTGTGTTCCTGACTGGAGTGC	0.502																																						uc011bgy.1		NA																	0				ovary(1)	1						c.(133-135)CTG>CTT		G protein-coupled receptor 15							78.0	73.0	75.0					3																	98251012		2203	4300	6503	SO:0001819	synonymous_variant	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251012G>T		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.135G>T	3.37:g.98251012G>T							p.L45L	NM_005290	NP_005281	P49685	GPR15_HUMAN		Lung(72;0.246)	1	135	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	45			Helical; Name=1; (Potential).		Q3MIL4|Q6ISN6	Silent	SNP	ENST00000284311.3	37	c.135G>T	CCDS2931.1																																																																																				0.502	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			7	68	1	0	8.13e-05	9.03e-05	7	68				
SLC34A2	10568	broad.mit.edu	37	4	25667818	25667818	+	Missense_Mutation	SNP	G	G	A	rs373310948		TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr4:25667818G>A	ENST00000382051.3	+	5	498	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	SLC34A2_ENST00000504570.1_Missense_Mutation_p.G149R|SLC34A2_ENST00000503434.1_Missense_Mutation_p.G149R|SLC34A2_ENST00000510033.2_3'UTR	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	150					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCTGGTGATCGGGGTGCTGGT	0.507			T	ROS1	NSCLC																																	uc003grr.2		NA		Dom	yes		4	4p15.2	10568		"""solute carrier family 34 (sodium phosphate), member 2"""			E					0				skin(3)|ovary(1)|kidney(1)	5						c.(448-450)GGG>AGG		solute carrier family 34 (sodium phosphate),		G	ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	136.0	133.0	134.0		445,445,448	3.8	0.9	4		134	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SLC34A2	NM_001177998.1,NM_001177999.1,NM_006424.2	125,125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	149/690,149/690,150/691	25667818	1,13005	2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25667818G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.448G>A	4.37:g.25667818G>A	ENSP00000371483:p.Gly150Arg					SLC34A2_uc003grs.2_Missense_Mutation_p.G149R|SLC34A2_uc010iev.2_Missense_Mutation_p.G149R	p.G150R	NM_006424	NP_006415	O95436	NPT2B_HUMAN			5	529	+		Breast(46;0.0503)	150			Helical; Name=M2; (Potential).		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.448G>A	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397342	0.83120	0.0	1.16E-4	ENSG00000157765	ENST00000513204;ENST00000504570;ENST00000382051;ENST00000503434;ENST00000507530	D;D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0;-4.0	4.69	3.85	0.44370	.	0.050112	0.85682	D	0.000000	D	0.99096	0.9689	H	0.99894	4.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.98156	1.0444	10	0.87932	D	0	-21.8755	13.1791	0.59645	0.0772:0.0:0.9228:0.0	.	149;150	O95436-2;O95436	.;NPT2B_HUMAN	R	149;149;150;149;150	ENSP00000423038:G149R;ENSP00000425501:G149R;ENSP00000371483:G150R;ENSP00000423021:G149R;ENSP00000424266:G150R	ENSP00000371483:G150R	G	+	1	0	SLC34A2	25276916	1.000000	0.71417	0.947000	0.38551	0.967000	0.64934	9.657000	0.98554	1.351000	0.45789	0.561000	0.74099	GGG		0.507	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		6	100	0	0	0	0	6	100				
FAT4	79633	broad.mit.edu	37	4	126412367	126412367	+	Missense_Mutation	SNP	C	C	A	rs564950345		TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr4:126412367C>A	ENST00000394329.3	+	17	14403	c.14390C>A	c.(14389-14391)aCa>aAa	p.T4797K	FAT4_ENST00000335110.5_Missense_Mutation_p.T3038K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4797					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGGCTCAACACACCTCGCCCT	0.527																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(14389-14391)ACA>AAA		FAT tumor suppressor homolog 4 precursor							60.0	63.0	62.0					4																	126412367		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126412367C>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14390C>A	4.37:g.126412367C>A	ENSP00000377862:p.Thr4797Lys					FAT4_uc011cgp.1_Missense_Mutation_p.T3038K|FAT4_uc003ifi.1_Missense_Mutation_p.T2274K	p.T4797K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			17	14390	+			4797			Cytoplasmic (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.14390C>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515561	0.64634	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.77098	-0.86;-1.07	4.87	4.87	0.63330	.	0.000000	0.35262	U	0.003321	T	0.77438	0.4130	L	0.51422	1.61	0.58432	D	0.999994	P;P;P	0.40731	0.59;0.608;0.728	B;B;B	0.43623	0.334;0.244;0.425	T	0.80527	-0.1343	10	0.62326	D	0.03	.	17.0284	0.86454	0.0:1.0:0.0:0.0	.	3038;4797;4796	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	K	4797;3038	ENSP00000377862:T4797K;ENSP00000335169:T3038K	ENSP00000335169:T3038K	T	+	2	0	FAT4	126631817	1.000000	0.71417	0.992000	0.48379	0.553000	0.35397	7.249000	0.78278	2.253000	0.74438	0.491000	0.48974	ACA		0.527	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		6	71	1	0	3.6e-05	4.08e-05	6	71				
TRIO	7204	broad.mit.edu	37	5	14504668	14504668	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr5:14504668G>C	ENST00000344204.4	+	55	8602	c.8578G>C	c.(8578-8580)Gag>Cag	p.E2860Q	TRIO_ENST00000344135.5_Missense_Mutation_p.E359Q|TRIO_ENST00000537187.1_Missense_Mutation_p.E2684Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2860	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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 GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CGACACCTTTGAGACCCCCAC	0.582																																						uc003jff.2		NA																	0				skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(8578-8580)GAG>CAG		triple functional domain (PTPRF interacting)							158.0	160.0	159.0					5																	14504668		2203	4300	6503	SO:0001583	missense	7204				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|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14504668G>C	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.8578G>C	5.37:g.14504668G>C	ENSP00000339299:p.Glu2860Gln					TRIO_uc003jfg.2_RNA	p.E2860Q	NM_007118	NP_009049	O75962	TRIO_HUMAN			55	8584	+	Lung NSC(4;0.000742)		2860			Protein kinase.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.8578G>C	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953052	0.92660	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000344135	T;T;T	0.66815	-0.23;-0.23;-0.23	5.61	5.61	0.85477	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80742	0.4681	L	0.58354	1.805	0.38064	D	0.936176	D	0.89917	1.0	D	0.97110	1.0	T	0.83127	-0.0115	10	0.87932	D	0	.	19.627	0.95680	0.0:0.0:1.0:0.0	.	2860	O75962	TRIO_HUMAN	Q	2860;2684;359	ENSP00000339299:E2860Q;ENSP00000446348:E2684Q;ENSP00000339291:E359Q	ENSP00000339291:E359Q	E	+	1	0	TRIO	14557668	1.000000	0.71417	0.999000	0.59377	0.757000	0.42996	7.875000	0.87205	2.632000	0.89209	0.655000	0.94253	GAG		0.582	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		8	228	0	0	0	0	8	228				
SLC4A9	83697	broad.mit.edu	37	5	139747331	139747331	+	Silent	SNP	C	C	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr5:139747331C>G	ENST00000230993.6	+	16	2309	c.2274C>G	c.(2272-2274)ctC>ctG	p.L758L	SLC4A9_ENST00000507527.1_Silent_p.L758L|SLC4A9_ENST00000506757.2_Silent_p.L734L|SLC4A9_ENST00000506545.1_Silent_p.L671L|SLC4A9_ENST00000432095.2_Silent_p.L720L	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	758	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGGACCTCTTCTGTGTGG	0.582																																						uc003lfm.2		NA																	0				large_intestine(1)	1						c.(2272-2274)CTC>CTG		solute carrier family 4, sodium bicarbonate							51.0	53.0	52.0					5																	139747331		2098	4224	6322	SO:0001819	synonymous_variant	83697					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr5:139747331C>G	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.2274C>G	5.37:g.139747331C>G						SLC4A9_uc003lfj.2_Silent_p.L734L|SLC4A9_uc011czg.1_Silent_p.L671L|SLC4A9_uc003lfl.2_Silent_p.L734L|SLC4A9_uc003lfk.2_Silent_p.L720L	p.L758L	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		16	2309	+			758			Helical; (Potential).|Membrane (anion exchange).		B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Silent	SNP	ENST00000230993.6	37	c.2274C>G	CCDS58973.1																																																																																				0.582	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372823.1	NM_031467		4	38	0	0	0	0	4	38				
PCDHGA12	26025	broad.mit.edu	37	5	140812277	140812277	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr5:140812277C>A	ENST00000252085.3	+	1	2093	c.1951C>A	c.(1951-1953)Cag>Aag	p.Q651K	PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	651	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCACGGCCAGCCCCCTCT	0.697																																						uc003lkt.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1951-1953)CAG>AAG		protocadherin gamma subfamily A, 12 isoform 1							35.0	44.0	41.0					5																	140812277		2200	4285	6485	SO:0001583	missense	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140812277C>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1951C>A	5.37:g.140812277C>A	ENSP00000252085:p.Gln651Lys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.Q651K	p.Q651K	NM_003735	NP_003726	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2120	+			651			Cadherin 6.|Extracellular (Potential).		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.1951C>A	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	13.87	2.364782	0.41902	.	.	ENSG00000253159	ENST00000252085	T	0.50548	0.74	5.06	4.12	0.48240	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.38931	0.1059	L	0.41573	1.285	0.20196	N	0.999928	P;P	0.39831	0.69;0.549	B;B	0.37692	0.23;0.256	T	0.33803	-0.9854	9	0.72032	D	0.01	.	9.5415	0.39255	0.0:0.7199:0.1973:0.0829	.	651;651	O60330-2;O60330	.;PCDGC_HUMAN	K	651	ENSP00000252085:Q651K	ENSP00000252085:Q651K	Q	+	1	0	PCDHGA12	140792461	0.000000	0.05858	1.000000	0.80357	0.964000	0.63967	-1.093000	0.03362	2.515000	0.84797	0.556000	0.70494	CAG		0.697	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		10	121	1	0	6.4e-05	7.15e-05	10	121				
OR2J2	26707	broad.mit.edu	37	6	29141890	29141890	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr6:29141890C>T	ENST00000377167.2	+	1	580	c.478C>T	c.(478-480)Cat>Tat	p.H160Y		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H160D(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CTCAGCACTTCATTCCTCCTT	0.463																																						uc011dlm.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(478-480)CAT>TAT		olfactory receptor, family 2, subfamily J,							245.0	226.0	232.0					6																	29141890		1957	4143	6100	SO:0001583	missense	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141890C>T		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.478C>T	6.37:g.29141890C>T	ENSP00000366372:p.His160Tyr						p.H160Y	NM_030905	NP_112167	O76002	OR2J2_HUMAN			1	580	+			160			Extracellular (Potential).		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	c.478C>T	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	C	7.060	0.566102	0.13560	.	.	ENSG00000204700	ENST00000377167	T	0.00267	8.38	2.3	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	L	0.41492	1.28	0.09310	N	1	D	0.56287	0.975	P	0.54544	0.755	T	0.39313	-0.9620	9	0.56958	D	0.05	.	11.4287	0.50027	0.0:1.0:0.0:0.0	.	160	O76002	OR2J2_HUMAN	Y	160	ENSP00000366372:H160Y	ENSP00000366372:H160Y	H	+	1	0	OR2J2	29249869	0.001000	0.12720	0.992000	0.48379	0.126000	0.20510	0.050000	0.14120	1.265000	0.44215	0.205000	0.17691	CAT		0.463	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			19	250	0	0	0	0	19	250				
TDRD6	221400	broad.mit.edu	37	6	46658969	46658969	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr6:46658969A>G	ENST00000316081.6	+	1	3104	c.3104A>G	c.(3103-3105)aAc>aGc	p.N1035S	TDRD6_ENST00000544460.1_Missense_Mutation_p.N1035S	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1035	Tudor 5. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCTCCCTTGAACCCTGGAACC	0.368																																						uc003oyj.2		NA																	0				breast(3)|ovary(2)|skin(1)	6						c.(3103-3105)AAC>AGC		tudor domain containing 6							65.0	70.0	68.0					6																	46658969		2203	4299	6502	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46658969A>G	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.3104A>G	6.37:g.46658969A>G	ENSP00000346065:p.Asn1035Ser					TDRD6_uc010jze.2_Missense_Mutation_p.N1029S	p.N1035S	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	3104	+			1035			Tudor 5.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.3104A>G	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	0.130	-1.114750	0.01799	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.09350	2.99;2.99	5.45	-8.95	0.00765	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	2.016030	0.01571	N	0.020579	T	0.01222	0.0040	N	0.17800	0.525	0.09310	N	1	B;B	0.17268	0.021;0.009	B;B	0.13407	0.005;0.009	T	0.38693	-0.9649	10	0.10902	T	0.67	0.5461	3.8872	0.09103	0.2393:0.412:0.2301:0.1185	.	1035;1035	F5H5M3;O60522	.;TDRD6_HUMAN	S	1035	ENSP00000443299:N1035S;ENSP00000346065:N1035S	ENSP00000346065:N1035S	N	+	2	0	TDRD6	46766928	0.000000	0.05858	0.697000	0.30258	0.868000	0.49771	-1.205000	0.03014	-0.929000	0.03757	-1.142000	0.01873	AAC		0.368	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		4	83	0	0	0	0	4	83				
AIM1	202	broad.mit.edu	37	6	106967352	106967352	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr6:106967352G>A	ENST00000369066.3	+	2	1532	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TACCGTCTCGGAAGAAGAGAT	0.438																																						uc003prh.2		NA																	0				breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9						c.(1045-1047)GAA>AAA		absent in melanoma 1							81.0	89.0	86.0					6																	106967352		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106967352G>A	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1045G>A	6.37:g.106967352G>A	ENSP00000358062:p.Glu349Lys						p.E349K	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	1532	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	349					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.1045G>A	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667485	0.47677	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.73897	-0.79	5.93	3.17	0.36434	.	0.636004	0.13924	N	0.353383	T	0.38081	0.1027	L	0.47716	1.5	0.19575	N	0.999966	B	0.13145	0.007	B	0.09377	0.004	T	0.33752	-0.9856	10	0.02654	T	1	.	9.6891	0.40116	0.2677:0.0:0.7323:0.0	.	349	Q9Y4K1	AIM1_HUMAN	K	757;349	ENSP00000358062:E349K	ENSP00000285105:E757K	E	+	1	0	AIM1	107074045	0.002000	0.14202	0.005000	0.12908	0.060000	0.15804	0.849000	0.27723	0.394000	0.25230	0.655000	0.94253	GAA		0.438	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			8	67	0	0	0	0	8	67				
MYO1G	64005	broad.mit.edu	37	7	45010270	45010270	+	Missense_Mutation	SNP	G	G	A	rs200247779	byFrequency	TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:45010270G>A	ENST00000258787.7	-	9	1274	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	380	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CGAGGATCCCGGCCCCGGGGT	0.602													G|||	6	0.00119808	0.0	0.0	5008	,	,		19462	0.006		0.0	False		,,,				2504	0.0					uc003tmh.2		NA																	0				breast(2)|ovary(1)|pancreas(1)	4						c.(1138-1140)CGG>TGG		myosin IG							86.0	87.0	87.0					7																	45010270		2203	4300	6503	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45010270G>A	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.1138C>T	7.37:g.45010270G>A	ENSP00000258787:p.Arg380Trp					MYO1G_uc003tmf.2_5'Flank|MYO1G_uc003tmg.2_Missense_Mutation_p.R142W|MYO1G_uc010kym.2_Missense_Mutation_p.R265W|MYO1G_uc003tmi.1_Missense_Mutation_p.R292W|MYO1G_uc003tmj.2_Missense_Mutation_p.R142W	p.R380W	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN			9	1282	-			380			Myosin head-like.		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.1138C>T	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638431	0.47153	.	.	ENSG00000136286	ENST00000258787	T	0.72167	-0.63	4.64	2.77	0.32553	Myosin head, motor domain (2);	0.000000	0.36932	N	0.002338	T	0.75982	0.3924	M	0.69358	2.11	0.36086	D	0.843095	D;D	0.63880	0.993;0.969	P;P	0.58928	0.808;0.848	T	0.79160	-0.1918	10	0.66056	D	0.02	.	7.0845	0.25249	0.0832:0.0:0.6073:0.3095	.	380;380	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	W	380	ENSP00000258787:R380W	ENSP00000258787:R380W	R	-	1	2	MYO1G	44976795	1.000000	0.71417	0.148000	0.22405	0.297000	0.27493	4.036000	0.57304	0.647000	0.30713	0.561000	0.74099	CGG		0.602	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			12	118	0	0	0	0	12	118				
SUMF2	25870	broad.mit.edu	37	7	56136270	56136270	+	Missense_Mutation	SNP	C	C	T	rs150976522	byFrequency	TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:56136270C>T	ENST00000413756.1	+	2	186	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	SUMF2_ENST00000275607.9_Intron|SUMF2_ENST00000342190.6_Missense_Mutation_p.R74W|SUMF2_ENST00000437307.2_Missense_Mutation_p.R55W|SUMF2_ENST00000395435.2_Missense_Mutation_p.R74W|SUMF2_ENST00000434526.2_Missense_Mutation_p.R74W|SUMF2_ENST00000395436.2_Missense_Mutation_p.R74W			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	55					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CGGGCCTGTGCGGGAGGCGAC	0.507													C|||	2	0.000399361	0.0015	0.0	5008	,	,		14510	0.0		0.0	False		,,,				2504	0.0					uc003trv.2		NA																	0				ovary(1)|skin(1)	2						c.(220-222)CGG>TGG		sulfatase modifying factor 2 isoform e		C	TRP/ARG,TRP/ARG,TRP/ARG,,TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	71.0	62.0	65.0		220,220,220,,220	4.1	1.0	7	dbSNP_134	65	0,8600		0,0,4300	no	missense,missense,missense,intron,missense	SUMF2	NM_001042469.1,NM_001042470.1,NM_001130069.2,NM_001146333.1,NM_015411.2	101,101,101,,101	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging,probably-damaging,probably-damaging,,probably-damaging	74/306,74/237,74/359,,74/321	56136270	3,13003	2203	4300	6503	SO:0001583	missense	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56136270C>T	AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.163C>T	7.37:g.56136270C>T	ENSP00000406445:p.Arg55Trp					PSPH_uc003trj.2_Intron|SUMF2_uc003tro.2_Missense_Mutation_p.R74W|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Missense_Mutation_p.R74W|SUMF2_uc011kcx.1_Missense_Mutation_p.R74W|SUMF2_uc003trt.2_Intron|SUMF2_uc011kcy.1_Missense_Mutation_p.R74W|SUMF2_uc011kcz.1_Missense_Mutation_p.R74W|SUMF2_uc003tru.2_RNA|SUMF2_uc011kda.1_5'UTR|SUMF2_uc003trx.2_RNA	p.R74W	NM_001130069	NP_001123541	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		2	251	+	Breast(14;0.214)		55					B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Missense_Mutation	SNP	ENST00000413756.1	37	c.220C>T		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.17	2.156936	0.38119	6.81E-4	0.0	ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000395435;ENST00000413952;ENST00000342190;ENST00000437307;ENST00000413756;ENST00000451338	T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	5.01	4.07	0.47477	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.106984	0.64402	D	0.000011	T	0.64159	0.2573	M	0.74467	2.265	0.80722	D	1	P;D;D;D;D;D	0.89917	0.937;0.965;0.987;1.0;0.978;0.973	B;B;P;D;B;B	0.69142	0.356;0.42;0.525;0.962;0.361;0.383	T	0.67397	-0.5681	10	0.87932	D	0	-23.3502	10.1451	0.42758	0.1487:0.7065:0.1448:0.0	.	55;74;74;55;74;74	Q8NBJ7-5;A8MXB9;E7EMF9;Q8NBJ7;F8WA42;C9JL30	.;.;.;SUMF2_HUMAN;.;.	W	74;74;74;74;74;55;55;52	ENSP00000378824:R74W;ENSP00000400922:R74W;ENSP00000378823:R74W;ENSP00000414434:R74W;ENSP00000341938:R74W;ENSP00000415989:R55W;ENSP00000406445:R55W;ENSP00000410796:R52W	ENSP00000341938:R74W	R	+	1	2	SUMF2	56103764	0.233000	0.23772	1.000000	0.80357	0.087000	0.18053	0.777000	0.26718	2.489000	0.83994	0.484000	0.47621	CGG		0.507	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2	NM_015411		4	46	0	0	0	0	4	46				
RABGEF1	27342	broad.mit.edu	37	7	66262383	66262383	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:66262383G>C	ENST00000284957.5	+	6	695	c.618G>C	c.(616-618)aaG>aaC	p.K206N	RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000380828.2_Missense_Mutation_p.K246N|KCTD7_ENST00000510829.2_Missense_Mutation_p.K206N|KCTD7_ENST00000451741.2_Missense_Mutation_p.K206N|RABGEF1_ENST00000437078.2_Missense_Mutation_p.K220N|RABGEF1_ENST00000450873.2_Missense_Mutation_p.K206N|RABGEF1_ENST00000439720.2_Missense_Mutation_p.K219N			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	423	Interaction with ubiquitinated proteins.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						GAGTCGAGAAGATAATGGATC	0.318																																						uc011kee.1		NA																	0				ovary(1)	1						c.(658-660)AAG>AAC		RAB guanine nucleotide exchange factor (GEF) 1							60.0	61.0	61.0					7																	66262383		2203	4300	6503	SO:0001583	missense	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66262383G>C	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.618G>C	7.37:g.66262383G>C	ENSP00000284957:p.Lys206Asn					RABGEF1_uc003tvf.2_Missense_Mutation_p.K79N|RABGEF1_uc003tvg.2_Missense_Mutation_p.K14N|RABGEF1_uc010lag.2_Missense_Mutation_p.K206N|RABGEF1_uc003tvh.2_Missense_Mutation_p.K206N|RABGEF1_uc003tvi.2_Missense_Mutation_p.K40N	p.K220N	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN			6	824	+			423					B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37	c.660G>C	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	.	13.05	2.121005	0.37436	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62	5.03	1.73	0.24493	.	0.210681	0.50627	D	0.000120	T	0.17365	0.0417	N	0.17474	0.49	0.41095	D	0.985628	B;B;P	0.39326	0.135;0.015;0.668	B;B;B	0.42188	0.034;0.005;0.379	T	0.05162	-1.0902	10	0.09084	T	0.74	-26.1681	9.2607	0.37610	0.4015:0.0:0.5985:0.0	.	220;40;423	B4DZM7;B3KMF1;Q9UJ41	.;.;RABX5_HUMAN	N	290;246;206;206;122;206;206;219;220	ENSP00000370208:K246N;ENSP00000421124:K206N;ENSP00000398177:K206N;ENSP00000284957:K206N;ENSP00000415815:K206N;ENSP00000403429:K219N;ENSP00000390480:K220N	ENSP00000370207:K290N	K	+	3	2	RABGEF1;KCTD7	65899818	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.925000	0.28791	0.530000	0.28619	0.551000	0.68910	AAG		0.318	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504		4	46	0	0	0	0	4	46				
AKAP9	10142	broad.mit.edu	37	7	91682106	91682106	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:91682106C>G	ENST00000359028.2	+	23	5696	c.5471C>G	c.(5470-5472)tCa>tGa	p.S1824*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.S1824*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.S1812*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1824					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACATGTGGTCAAAAGTAACT	0.373			T	BRAF	papillary thyroid																																	uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(5434-5436)TCA>TGA		A-kinase anchor protein 9 isoform 2							110.0	98.0	102.0					7																	91682106		2203	4300	6503	SO:0001587	stop_gained	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91682106C>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5471C>G	7.37:g.91682106C>G	ENSP00000351922:p.Ser1824*					AKAP9_uc003ulf.2_Nonsense_Mutation_p.S1812*|AKAP9_uc003uli.2_Nonsense_Mutation_p.S1435*	p.S1812*	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		22	5660	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1824					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	ENST00000359028.2	37	c.5435C>G		.	.	.	.	.	.	.	.	.	.	C	47	13.479421	0.99744	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	.	.	.	5.52	5.52	0.82312	.	0.000000	0.35772	N	0.002998	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7943	0.96472	0.0:1.0:0.0:0.0	.	.	.	.	X	1812;1824;1824;1824	.	ENSP00000348573:S1812X	S	+	2	0	AKAP9	91520042	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	2.509000	0.45459	2.755000	0.94549	0.591000	0.81541	TCA		0.373	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		9	61	0	0	0	0	9	61				
PCOLCE	5118	broad.mit.edu	37	7	100205594	100205594	+	Silent	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:100205594G>A	ENST00000223061.5	+	9	1498	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	406	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGGTAGAAGAGAACAGAGGCC	0.547																																						uc003uvo.2		NA																	0					0						c.(1216-1218)GAG>GAA		procollagen C-endopeptidase enhancer							85.0	87.0	86.0					7																	100205594		2203	4300	6503	SO:0001819	synonymous_variant	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100205594G>A	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1218G>A	7.37:g.100205594G>A						PCOLCE_uc010lhb.1_RNA|PCOLCE_uc003uvp.1_RNA	p.E406E	NM_002593	NP_002584	Q15113	PCOC1_HUMAN			9	1416	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		406			NTR.		B2R9E1|O14550	Silent	SNP	ENST00000223061.5	37	c.1218G>A	CCDS5700.1																																																																																				0.547	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		12	105	0	0	0	0	12	105				
MUC17	140453	broad.mit.edu	37	7	100685103	100685103	+	Missense_Mutation	SNP	C	C	T	rs146748610	byFrequency	TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:100685103C>T	ENST00000306151.4	+	3	10470	c.10406C>T	c.(10405-10407)cCg>cTg	p.P3469L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3469	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTACCACGCCGGTGGCCAGT	0.498													C|||	3	0.000599042	0.0023	0.0	5008	,	,		26221	0.0		0.0	False		,,,				2504	0.0					uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(10405-10407)CCG>CTG		mucin 17 precursor		C	LEU/PRO	14,4392	20.2+/-43.8	0,14,2189	237.0	252.0	247.0		10406	0.3	0.0	7	dbSNP_134	247	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MUC17	NM_001040105.1	98	0,16,6487	TT,TC,CC		0.0233,0.3177,0.123	benign	3469/4494	100685103	16,12990	2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685103C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10406C>T	7.37:g.100685103C>T	ENSP00000302716:p.Pro3469Leu					MUC17_uc010lho.1_RNA	p.P3469L	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	10459	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3469			Extracellular (Potential).|Ser-rich.|56.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10406C>T	CCDS34711.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.679	0.493908	0.12702	0.003177	2.33E-4	ENSG00000169876	ENST00000306151	T	0.02032	4.49	1.26	0.258	0.15578	.	.	.	.	.	T	0.02418	0.0074	N	0.19112	0.55	0.09310	N	1	P	0.45768	0.866	P	0.50231	0.635	T	0.49485	-0.8935	9	0.21014	T	0.42	.	5.5783	0.17235	0.0:0.7888:0.0:0.2112	.	3469	Q685J3	MUC17_HUMAN	L	3469	ENSP00000302716:P3469L	ENSP00000302716:P3469L	P	+	2	0	MUC17	100471823	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-2.158000	0.01281	-0.158000	0.11040	-1.202000	0.01658	CCG		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		33	350	0	0	0	0	33	350				
PIK3CG	5294	broad.mit.edu	37	7	106520087	106520087	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:106520087C>T	ENST00000359195.3	+	6	2825	c.2515C>T	c.(2515-2517)Cgc>Tgc	p.R839C	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R839C|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R839C	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	839	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R839C(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGATGATCTGCGCCAAGACAT	0.333																																						uc003vdv.3		NA																	1	Substitution - Missense(1)	p.R839C(1)	pancreas(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(2515-2517)CGC>TGC		phosphoinositide-3-kinase, catalytic, gamma							102.0	97.0	99.0					7																	106520087		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106520087C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2515C>T	7.37:g.106520087C>T	ENSP00000352121:p.Arg839Cys					PIK3CG_uc003vdu.2_Missense_Mutation_p.R839C|PIK3CG_uc003vdw.2_Missense_Mutation_p.R839C	p.R839C	NM_002649	NP_002640	P48736	PK3CG_HUMAN			6	2600	+			839			PI3K/PI4K.		A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.2515C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163966	0.78226	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000473541;ENST00000359195	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.69	3.89	0.44902	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.047877	0.85682	D	0.000000	D	0.96207	0.8763	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96260	0.9190	10	0.87932	D	0	-25.0384	12.1942	0.54288	0.0:0.8619:0.0:0.1381	.	839	P48736	PK3CG_HUMAN	C	839;839;112;839	ENSP00000392258:R839C;ENSP00000419260:R839C;ENSP00000417623:R112C;ENSP00000352121:R839C	ENSP00000352121:R839C	R	+	1	0	PIK3CG	106307323	0.995000	0.38212	0.999000	0.59377	0.999000	0.98932	3.223000	0.51231	0.756000	0.33013	0.655000	0.94253	CGC		0.333	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			6	67	0	0	0	0	6	67				
LAMB1	3912	broad.mit.edu	37	7	107572693	107572693	+	Missense_Mutation	SNP	C	C	T	rs267601228		TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:107572693C>T	ENST00000222399.6	-	28	4548	c.4318G>A	c.(4318-4320)Gcc>Acc	p.A1440T	LAMB1_ENST00000393561.1_Missense_Mutation_p.A1464T|LAMB1_ENST00000474380.1_5'UTR	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1440	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.A1440T(2)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TTCTGCCAGGCGTTGTGTGCA	0.552																																						uc003vew.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|prostate(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.(4318-4320)GCC>ACC		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						172.0	157.0	162.0					7																	107572693		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107572693C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4318G>A	7.37:g.107572693C>T	ENSP00000222399:p.Ala1440Thr					LAMB1_uc003vev.2_Missense_Mutation_p.A1464T|LAMB1_uc003veu.2_5'Flank	p.A1440T	NM_002291	NP_002282	P07942	LAMB1_HUMAN			28	4653	-			1440			Domain I.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.4318G>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339605	0.81911	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.42513	0.97;0.99	5.06	5.06	0.68205	.	.	.	.	.	T	0.65059	0.2655	M	0.77486	2.375	0.80722	D	1	D;D	0.76494	0.999;0.996	P;P	0.62813	0.907;0.769	T	0.69811	-0.5044	9	0.87932	D	0	.	18.6114	0.91286	0.0:1.0:0.0:0.0	.	1440;1464	P07942;G3XAI2	LAMB1_HUMAN;.	T	1464;1440	ENSP00000377191:A1464T;ENSP00000222399:A1440T	ENSP00000222399:A1440T	A	-	1	0	LAMB1	107359929	0.148000	0.22702	0.963000	0.40424	0.993000	0.82548	0.667000	0.25112	2.627000	0.88993	0.655000	0.94253	GCC		0.552	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		19	179	0	0	0	0	19	179				
OR6B1	135946	broad.mit.edu	37	7	143701885	143701885	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:143701885T>G	ENST00000408922.2	+	1	864	c.796T>G	c.(796-798)Ttc>Gtc	p.F266V		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TATCCATGCCTTCAACATGAA	0.428																																						uc003wdt.1		NA																	0				ovary(1)	1						c.(796-798)TTC>GTC		olfactory receptor, family 6, subfamily B,							138.0	129.0	132.0					7																	143701885		1959	4152	6111	SO:0001583	missense	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701885T>G		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.796T>G	7.37:g.143701885T>G	ENSP00000386151:p.Phe266Val						p.F266V	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			1	796	+	Melanoma(164;0.0783)		266			Extracellular (Potential).		A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	c.796T>G	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.942963	0.34283	.	.	ENSG00000221813	ENST00000408922	T	0.00058	8.79	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.213208	0.23377	U	0.048855	T	0.00109	0.0003	N	0.13003	0.285	0.20074	N	0.999938	B	0.14805	0.011	B	0.25987	0.065	T	0.44298	-0.9337	10	0.32370	T	0.25	.	13.1892	0.59700	0.0:0.0:0.0:1.0	.	266	O95007	OR6B1_HUMAN	V	266	ENSP00000386151:F266V	ENSP00000386151:F266V	F	+	1	0	OR6B1	143332818	0.000000	0.05858	0.999000	0.59377	0.752000	0.42762	-0.338000	0.07842	2.212000	0.71576	0.533000	0.62120	TTC		0.428	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			8	90	0	0	0	0	8	90				
PRKAG2	51422	broad.mit.edu	37	7	151573605	151573605	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr7:151573605C>T	ENST00000287878.4	-	1	605	c.101G>A	c.(100-102)cGc>cAc	p.R34H	PRKAG2-AS1_ENST00000464464.1_RNA|PRKAG2-AS1_ENST00000467458.1_RNA	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	34					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	AATGTGCACGCGCAGCGAACG	0.647																																						uc003wkk.2		NA																	0				breast(1)|kidney(1)	2						c.(100-102)CGC>CAC		AMP-activated protein kinase gamma2 subunit							86.0	86.0	86.0					7																	151573605		2203	4300	6503	SO:0001583	missense	51422				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding	g.chr7:151573605C>T	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.101G>A	7.37:g.151573605C>T	ENSP00000287878:p.Arg34His					PRKAG2_uc010lqe.1_RNA|PRKAG2_uc003wkm.1_Missense_Mutation_p.R34H|uc003wko.1_5'Flank	p.R34H	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	1	712	-	all_neural(206;0.187)	all_hematologic(28;0.0605)	34					Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	c.101G>A	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525047	0.85600	.	.	ENSG00000106617	ENST00000287878	D	0.90261	-2.64	4.01	4.01	0.46588	.	0.000000	0.64402	D	0.000004	D	0.90913	0.7144	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.98	D	0.91466	0.5193	10	0.72032	D	0.01	.	11.5678	0.50815	0.0:1.0:0.0:0.0	.	34;34	Q8NCK6;Q9UGJ0	.;AAKG2_HUMAN	H	34	ENSP00000287878:R34H	ENSP00000287878:R34H	R	-	2	0	PRKAG2	151204538	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	3.574000	0.53863	2.082000	0.62665	0.449000	0.29647	CGC		0.647	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		7	68	0	0	0	0	7	68				
PREX2	80243	broad.mit.edu	37	8	69005941	69005941	+	Silent	SNP	T	T	C			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr8:69005941T>C	ENST00000288368.4	+	21	2629	c.2352T>C	c.(2350-2352)ttT>ttC	p.F784F	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	784					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGGATGCTTTTGACTGTAAAG	0.403																																						uc003xxv.1		NA																	0				skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(2350-2352)TTT>TTC		DEP domain containing 2 isoform a							104.0	107.0	106.0					8																	69005941		2203	4300	6503	SO:0001819	synonymous_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69005941T>C	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2352T>C	8.37:g.69005941T>C						PREX2_uc003xxu.1_Silent_p.F784F|PREX2_uc011lez.1_Silent_p.F719F	p.F784F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			21	2379	+			784					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	c.2352T>C	CCDS6201.1																																																																																				0.403	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		9	102	0	0	0	0	9	102				
C8orf34	116328	broad.mit.edu	37	8	69358591	69358591	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr8:69358591G>A	ENST00000539993.1	+	3	794	c.245G>A	c.(244-246)aGa>aAa	p.R82K	C8orf34_ENST00000523686.1_Missense_Mutation_p.R82K|C8orf34_ENST00000348340.2_Missense_Mutation_p.R82K|C8orf34_ENST00000518698.1_Missense_Mutation_p.R168K|C8orf34_ENST00000337103.4_Missense_Mutation_p.R57K|C8orf34_ENST00000349492.3_3'UTR			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	82										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGGGATTTCAGAAGCTATGAT	0.348																																						uc010lyz.2		NA																	0				large_intestine(1)	1						c.(244-246)AGA>AAA		hypothetical protein LOC116328							95.0	98.0	97.0					8																	69358591		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69358591G>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.245G>A	8.37:g.69358591G>A	ENSP00000438159:p.Arg82Lys					C8orf34_uc010lyx.1_Missense_Mutation_p.R82K|C8orf34_uc010lyy.1_Missense_Mutation_p.R82K|C8orf34_uc003xyb.2_Missense_Mutation_p.R57K	p.R82K	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		3	294	+			82					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.245G>A		.	.	.	.	.	.	.	.	.	.	G	25.1	4.601951	0.87055	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000523686;ENST00000348340;ENST00000337103	T;T;T	0.59502	0.26;0.3;0.52	6.02	6.02	0.97574	.	0.090205	0.85682	D	0.000000	T	0.75110	0.3805	M	0.62723	1.935	0.51233	D	0.999912	D;D;P	0.61697	0.971;0.99;0.942	P;D;P	0.72982	0.647;0.979;0.647	T	0.71076	-0.4697	9	.	.	.	-21.2138	20.5407	0.99260	0.0:0.0:1.0:0.0	.	82;82;82	Q49A92;Q49A92-3;Q49A92-5	CH034_HUMAN;.;.	K	168;82;82;82;57	ENSP00000427820:R168K;ENSP00000438159:R82K;ENSP00000337174:R57K	.	R	+	2	0	C8orf34	69521145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.259000	0.72494	2.865000	0.98341	0.655000	0.94253	AGA		0.348	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		4	58	0	0	0	0	4	58				
RSPO2	340419	broad.mit.edu	37	8	109001316	109001316	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr8:109001316C>T	ENST00000276659.5	-	3	871	c.251G>A	c.(250-252)gGa>gAa	p.G84E	RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000517939.1_Missense_Mutation_p.G17E|RSPO2_ENST00000378439.2_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	84					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			GGCTCGGTGTCCATAGTACCC	0.488																																						uc003yms.2		NA																	0				skin(3)|ovary(2)|pancreas(1)|lung(1)	7						c.(250-252)GGA>GAA		R-spondin family, member 2 precursor							102.0	86.0	92.0					8																	109001316		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:109001316C>T	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.251G>A	8.37:g.109001316C>T	ENSP00000276659:p.Gly84Glu					RSPO2_uc003ymq.2_Missense_Mutation_p.G17E|RSPO2_uc003ymr.2_Intron	p.G84E	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		3	909	-			84					B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.251G>A	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939059	0.92526	.	.	ENSG00000147655	ENST00000517939;ENST00000276659;ENST00000521502;ENST00000521757;ENST00000521956;ENST00000520026	D;T;D;D;T;T	0.84873	-1.91;-1.2;-1.91;-1.91;-1.2;-1.2	5.14	5.14	0.70334	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.88636	0.6490	L	0.39692	1.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84365	0.0540	10	0.14252	T	0.57	-6.7852	18.9727	0.92721	0.0:1.0:0.0:0.0	.	84	Q6UXX9	RSPO2_HUMAN	E	17;84;17;17;84;56	ENSP00000428940:G17E;ENSP00000276659:G84E;ENSP00000428614:G17E;ENSP00000430485:G17E;ENSP00000430010:G84E;ENSP00000429159:G56E	ENSP00000276659:G84E	G	-	2	0	RSPO2	109070492	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.307000	0.78920	2.563000	0.86464	0.557000	0.71058	GGA		0.488	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		4	78	0	0	0	0	4	78				
CSMD3	114788	broad.mit.edu	37	8	113308235	113308235	+	Splice_Site	SNP	G	G	A	rs369949755		TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr8:113308235G>A	ENST00000297405.5	-	54	8685	c.8441C>T	c.(8440-8442)gCg>gTg	p.A2814V	CSMD3_ENST00000352409.3_Splice_Site_p.A2744V|CSMD3_ENST00000455883.2_Splice_Site_p.A2645V|CSMD3_ENST00000343508.3_Splice_Site_p.A2774V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2814	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A2814V(1)|p.A2814E(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACAATGACCCGCTGAAATACG	0.299										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|prostate(1)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(8440-8442)GCG>GTG		CUB and Sushi multiple domains 3 isoform 1		G	VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	57.0	56.0	56.0		7934,8441,8321	5.3	1.0	8		56	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice,missense-near-splice	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	64,64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	2645/3539,2814/3708,2774/3668	113308235	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113308235G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8441-1C>T	8.37:g.113308235G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.A2016V|CSMD3_uc003ynt.2_Missense_Mutation_p.A2774V|CSMD3_uc011lhx.1_Missense_Mutation_p.A2645V	p.A2814V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			54	8600	-			2814			Extracellular (Potential).|Sushi 17.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8441C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862300	0.71949	2.27E-4	0.0	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.31	5.31	0.75309	Complement control module (2);Sushi/SCR/CCP (1);	0.000000	0.64402	D	0.000001	T	0.40347	0.1113	M	0.76433	2.335	0.80722	D	1	D;P;D	0.55385	0.971;0.95;0.969	P;B;P	0.48400	0.503;0.368;0.576	T	0.24728	-1.0152	10	0.31617	T	0.26	.	18.9718	0.92718	0.0:0.0:1.0:0.0	.	2645;2814;2774	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	2774;2814;2084;2645;2744	ENSP00000345799:A2774V;ENSP00000297405:A2814V;ENSP00000341558:A2084V;ENSP00000412263:A2645V;ENSP00000343124:A2744V	ENSP00000297405:A2814V	A	-	2	0	CSMD3	113377411	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	6.622000	0.74233	2.480000	0.83734	0.655000	0.94253	GCG		0.299	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	4	35	0	0	0	0	4	35				
GLIS3	169792	broad.mit.edu	37	9	4285986	4285986	+	Intron	SNP	G	G	C	rs10758591	byFrequency	TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr9:4285986G>C	ENST00000381971.3	-	2	982					NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3						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)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AATGGGATGGGGGAGAAAAAA	0.408													G|||	1709	0.341254	0.0469	0.4135	5008	,	,		19779	0.502		0.4632	False		,,,				2504	0.3967					uc003zii.1		NA																	0				ovary(1)	1						c.(439-441)CCC>CGC		SubName: Full=GLIS family zinc finger 3 transcript variant TS2; SubName: Full=GLIS family zinc finger 3 transcript variant TS3; SubName: Full=GLIS family zinc finger 3 transcript variant TS4; SubName: Full=GLIS family zinc finger 3 transcript variant TS5; Flags: Fragment;		G		233,1519		20,193,663	63.0	65.0	64.0			-0.4	0.0	9	dbSNP_120	64	1935,2047		464,1007,520	no	intron	GLIS3	NM_001042413.1		484,1200,1183	CC,CG,GG		48.5937,13.2991,37.8096			4285986	2168,3566	876	1991	2867	SO:0001627	intron_variant	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4285986G>C	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000381971.3:c.388+51C>G	9.37:g.4285986G>C						GLIS3_uc003zhx.1_Intron|GLIS3_uc003zic.1_Intron|GLIS3_uc003zie.1_Intron|GLIS3_uc010mhh.1_Intron|GLIS3_uc003zid.1_Intron|GLIS3_uc010mhi.1_Intron|GLIS3_uc003zif.1_Intron|GLIS3_uc003zig.1_Intron|GLIS3_uc003zih.1_Intron	p.P147R			Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	2	1153	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	Error:Variant_position_missing_in_Q8NEA6_after_alignment					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000381971.3	37	c.440C>G	CCDS43784.1																																																																																				0.408	GLIS3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354776.1	NM_152629		4	68	0	0	0	0	4	68				
GNE	10020	broad.mit.edu	37	9	36236908	36236908	+	Silent	SNP	T	T	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr9:36236908T>A	ENST00000539815.1	-	3	730	c.690A>T	c.(688-690)atA>atT	p.I230I	GNE_ENST00000539208.1_Intron|GNE_ENST00000377902.5_Silent_p.I230I|GNE_ENST00000396594.3_Silent_p.I261I|GNE_ENST00000447283.2_Silent_p.I230I|GNE_ENST00000543356.2_Silent_p.I225I			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	230					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CAAACATTTTTATGGAATGCT	0.348																																					GBM(184;106 2118 20004 35750 50727)	uc010mlh.2		NA																	0					0						c.(688-690)ATA>ATT		UDP-N-acetylglucosamine-2-epimerase/N-							130.0	122.0	125.0					9																	36236908		2203	4300	6503	SO:0001819	synonymous_variant	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36236908T>A	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.690A>T	9.37:g.36236908T>A						CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Silent_p.I230I|GNE_uc011lpl.1_Intron|GNE_uc010mli.2_Silent_p.I261I|GNE_uc010mlj.2_Silent_p.I225I	p.I230I	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		4	905	-			230			UDP-N-acetylglucosamine 2-epimerase.		A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Silent	SNP	ENST00000539815.1	37	c.690A>T	CCDS6602.1																																																																																				0.348	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	NM_005476		6	70	0	0	0	0	6	70				
SPATA31A6	389730	broad.mit.edu	37	9	43625382	43625382	+	Missense_Mutation	SNP	G	G	A	rs143826416	byFrequency	TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr9:43625382G>A	ENST00000332857.6	-	4	3333	c.3305C>T	c.(3304-3306)cCt>cTt	p.P1102L	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1102					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTGTGAATAGGGGGAAACAT	0.483													G|||	2248	0.448882	0.3132	0.4625	5008	,	,		13804	0.6458		0.5	False		,,,				2504	0.3671					uc011lrb.1		NA																	0					0						c.(3304-3306)CCT>CTT		hypothetical protein LOC389730							1.0	2.0	2.0					9																	43625382		372	1032	1404	SO:0001583	missense	389730					integral to membrane		g.chr9:43625382G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3305C>T	9.37:g.43625382G>A	ENSP00000329825:p.Pro1102Leu						p.P1102L	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	3334	-			1102						Missense_Mutation	SNP	ENST00000332857.6	37	c.3305C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762340	0.31228	.	.	ENSG00000185775	ENST00000332857	T	0.04970	3.52	2.44	0.396	0.16309	.	1.512980	0.04100	N	0.312673	T	0.12860	0.0312	M	0.71206	2.165	0.80722	P	0.0	B	0.33044	0.395	B	0.42495	0.389	T	0.36648	-0.9739	9	0.56958	D	0.05	.	2.8448	0.05540	0.1624:0.0:0.5643:0.2733	.	1102	Q5VVP1	F75A6_HUMAN	L	1102	ENSP00000329825:P1102L	ENSP00000329825:P1102L	P	-	2	0	FAM75A6	43565378	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.063000	0.14410	0.111000	0.17947	0.383000	0.25322	CCT		0.483	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		7	125	0	0	0	0	7	125				
NOTCH1	4851	broad.mit.edu	37	9	139411828	139411828	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr9:139411828C>A	ENST00000277541.6	-	9	1526	c.1451G>T	c.(1450-1452)gGt>gTt	p.G484V	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	484	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G484V(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCAGTGCACACCCTCGTAGCC	0.652			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Missense(2)	p.G484V(2)	upper_aerodigestive_tract(2)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(1450-1452)GGT>GTT		notch1 preproprotein							27.0	32.0	30.0					9																	139411828		2094	4220	6314	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139411828C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1451G>T	9.37:g.139411828C>A	ENSP00000277541:p.Gly484Val	HNSCC(8;0.001)					p.G484V	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	9	1451	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	484			Extracellular (Potential).|EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1451G>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055795	0.76074	.	.	ENSG00000148400	ENST00000277541	D	0.96587	-4.06	4.54	4.54	0.55810	EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98975	0.9651	H	0.98980	4.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99246	1.0886	10	0.87932	D	0	.	16.2616	0.82550	0.0:1.0:0.0:0.0	.	484	P46531	NOTC1_HUMAN	V	484	ENSP00000277541:G484V	ENSP00000277541:G484V	G	-	2	0	NOTCH1	138531649	1.000000	0.71417	0.917000	0.36280	0.917000	0.54804	7.294000	0.78760	2.062000	0.61559	0.557000	0.71058	GGT		0.652	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		3	16	1	0	0.004672	0.00503138	3	16				
GLRA2	2742	broad.mit.edu	37	X	14550468	14550468	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chrX:14550468A>G	ENST00000218075.4	+	2	706	c.176A>G	c.(175-177)gAt>gGt	p.D59G	GLRA2_ENST00000443437.2_5'UTR|GLRA2_ENST00000355020.4_Missense_Mutation_p.D59G	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	59					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.D59V(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	TCAGGATATGATGCAAGAATC	0.378																																						uc010nep.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(175-177)GAT>GGT		glycine receptor, alpha 2 isoform A	Ethanol(DB00898)|Glycine(DB00145)						116.0	113.0	114.0					X																	14550468		2203	4300	6503	SO:0001583	missense	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14550468A>G		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.176A>G	X.37:g.14550468A>G	ENSP00000218075:p.Asp59Gly					GLRA2_uc010neq.2_Missense_Mutation_p.D59G|GLRA2_uc004cwe.3_Missense_Mutation_p.D59G|GLRA2_uc011mio.1_5'UTR|GLRA2_uc011mip.1_Missense_Mutation_p.D37G	p.D59G	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN			3	508	+	Hepatocellular(33;0.128)		59			Extracellular (Probable).		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.176A>G	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.034599	0.75617	.	.	ENSG00000101958	ENST00000218075;ENST00000355020;ENST00000415367	T;T;T	0.80909	-1.43;-1.43;-1.43	5.08	5.08	0.68730	Neurotransmitter-gated ion-channel ligand-binding (3);	0.051850	0.85682	D	0.000000	D	0.92545	0.7632	H	0.96547	3.84	0.80722	D	1	D;D;D	0.89917	1.0;0.991;0.996	D;D;D	0.97110	1.0;0.989;0.987	D	0.94466	0.7680	10	0.87932	D	0	.	13.2275	0.59922	1.0:0.0:0.0:0.0	.	43;59;59	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	G	59;59;43	ENSP00000218075:D59G;ENSP00000347123:D59G;ENSP00000391606:D43G	ENSP00000218075:D59G	D	+	2	0	GLRA2	14460389	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.376000	0.90138	1.785000	0.52413	0.481000	0.45027	GAT		0.378	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			10	43	0	0	0	0	10	43				
RBBP7	5931	broad.mit.edu	37	X	16870184	16870184	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chrX:16870184T>G	ENST00000380087.2	-	9	1385	c.1025A>C	c.(1024-1026)aAt>aCt	p.N342T	RBBP7_ENST00000404022.1_Missense_Mutation_p.N333T|RBBP7_ENST00000380084.4_Missense_Mutation_p.N386T			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	342					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					ATCCCACACATTCAGGCGGCG	0.368																																						uc004cxt.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1024-1026)AAT>ACT		retinoblastoma binding protein 7							229.0	196.0	207.0					X																	16870184		2203	4300	6503	SO:0001583	missense	5931				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	g.chrX:16870184T>G	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.1025A>C	X.37:g.16870184T>G	ENSP00000369427:p.Asn342Thr					RBBP7_uc004cxs.1_Missense_Mutation_p.N386T|RBBP7_uc004cxu.2_Missense_Mutation_p.N333T	p.N342T	NM_002893	NP_002884	Q16576	RBBP7_HUMAN			9	1383	-	Hepatocellular(33;0.0997)		342			WD 6.		Q5JP00	Missense_Mutation	SNP	ENST00000380087.2	37	c.1025A>C	CCDS14179.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.291376	0.40494	.	.	ENSG00000102054	ENST00000425696;ENST00000380087;ENST00000380084;ENST00000404022;ENST00000444437;ENST00000416035	T;T;T;T;T;T	0.65178	-0.14;0.22;0.22;0.22;0.22;0.0	5.46	5.46	0.80206	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.49423	0.1556	N	0.13140	0.3	0.80722	D	1	B;B;B	0.27997	0.084;0.197;0.128	B;B;B	0.33799	0.032;0.17;0.12	T	0.53063	-0.8491	10	0.59425	D	0.04	-1.7267	13.8589	0.63548	0.0:0.0:0.0:1.0	.	333;342;386	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	T	2;342;386;333;146;281	ENSP00000415747:N2T;ENSP00000369427:N342T;ENSP00000369424:N386T;ENSP00000386068:N333T;ENSP00000402796:N146T;ENSP00000392714:N281T	ENSP00000369424:N386T	N	-	2	0	RBBP7	16780105	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.249000	0.72427	1.938000	0.56188	0.437000	0.28790	AAT		0.368	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893		17	111	0	0	0	0	17	111				
ELF4	2000	broad.mit.edu	37	X	129201444	129201444	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chrX:129201444G>A	ENST00000308167.5	-	9	1623	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	ELF4_ENST00000335997.7_Missense_Mutation_p.S415L	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GGTCAGGGCCGAGCCCGACCC	0.587			T	ERG	AML																																	uc004evd.3		NA		Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				ovary(1)	1						c.(1243-1245)TCG>TTG		E74-like factor 4							56.0	55.0	55.0					X																	129201444		2203	4300	6503	SO:0001583	missense	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129201444G>A	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1244C>T	X.37:g.129201444G>A	ENSP00000311280:p.Ser415Leu					ELF4_uc004eve.3_Missense_Mutation_p.S415L	p.S415L	NM_001421	NP_001412	Q99607	ELF4_HUMAN			9	1629	-			415						Missense_Mutation	SNP	ENST00000308167.5	37	c.1244C>T	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	g	16.19	3.054344	0.55218	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.21932	1.98;1.98	4.8	4.8	0.61643	.	0.716258	0.12479	N	0.465307	T	0.34106	0.0886	L	0.32530	0.975	0.36063	D	0.841607	D	0.89917	1.0	D	0.67103	0.949	T	0.30357	-0.9981	10	0.66056	D	0.02	.	11.9923	0.53182	0.0:0.0:1.0:0.0	.	415	Q99607	ELF4_HUMAN	L	415	ENSP00000338608:S415L;ENSP00000311280:S415L	ENSP00000311280:S415L	S	-	2	0	ELF4	129029125	1.000000	0.71417	0.365000	0.25901	0.401000	0.30781	3.228000	0.51270	2.217000	0.71921	0.509000	0.49947	TCG		0.587	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		12	46	0	0	0	0	12	46				
TP53	7157	broad.mit.edu	37	17	7579698	7579699	+	Splice_Site	INS	-	-	CC			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr17:7579698_7579699insCC	ENST00000269305.4	-	3	286		c.e3+1		TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTTGTCCTTACCAGAACGTTG	0.594		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		21	Unknown(11)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.0?(7)|p.?(2)|p.S33fs*10(1)|p.P13fs*18(1)	liver(8)|bone(4)|central_nervous_system(2)|ovary(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.e3+1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579698_7579699insCC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.96+1->GG	17.37:g.7579699_7579700dupCC		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Splice_Site_p.L32_splice|TP53_uc002gih.2_Splice_Site_p.L32_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.L32_splice|TP53_uc010cni.1_Splice_Site_p.L32_splice|TP53_uc002gij.2_Splice_Site_p.L32_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Splice_Site_p.L32_splice|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site|TP53_uc010cnk.1_Splice_Site_p.L47_splice	p.L32_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	3	290	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	INS	ENST00000269305.4	37	c.96_splice	CCDS11118.1																																																																																				0.594	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	9	50	NA	NA	NA	NA	9	50	---	---	---	---
H1FX	8971	broad.mit.edu	37	3	129034495	129034495	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-7376-01A-11D-2129-08	TCGA-CR-7376-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a6b11f68-79da-4542-818d-f404116c0bf8	47cf1857-e93d-470f-abe2-bebe102fb2c1	g.chr3:129034495delT	ENST00000333762.4	-	1	625	c.251delA	c.(250-252)aatfs	p.N84fs	H1FX-AS1_ENST00000502789.2_RNA|H1FX-AS1_ENST00000537780.1_RNA|H1FX-AS1_ENST00000383461.2_RNA|H1FX-AS1_ENST00000511998.1_RNA|H1FX-AS1_ENST00000433902.2_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	84	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)	nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			kidney(1)|ovary(1)|urinary_tract(2)	4						GGTGCGCCCATTCTGCTGGTC	0.612																																						uc003elx.2		NA																	0					0						c.(250-252)AATfs		H1 histone family, member X							59.0	35.0	43.0					3																	129034495		2202	4297	6499	SO:0001589	frameshift_variant	8971				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr3:129034495delT	D64142	CCDS3057.1	3q21.3	2011-08-16			ENSG00000184897	ENSG00000184897		"""Histones / Replication-independent"""	4722	protein-coding gene	gene with protein product		602785				8964515, 9439656	Standard	NM_006026		Approved	MGC15959, MGC8350, H1X	uc003elx.3	Q92522	OTTHUMG00000159450	ENST00000333762.4:c.251delA	3.37:g.129034495delT	ENSP00000329662:p.Asn84fs					C3orf47_uc011bkv.1_5'Flank	p.N84fs	NM_006026	NP_006017	Q92522	H1X_HUMAN			1	626	-			84			H15.			Frame_Shift_Del	DEL	ENST00000333762.4	37	c.251delA	CCDS3057.1																																																																																				0.612	H1FX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355455.2	NM_006026		2	4	NA	NA	NA	NA	2	4	---	---	---	---
