#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GRIN2B	2904	broad.mit.edu	37	12	13716879	13716879	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr12:13716879G>A	ENST00000609686.1	-	13	3502	c.3293C>T	c.(3292-3294)tCc>tTc	p.S1098F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1098					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTCCCTGCGGGACTTGGCCGA	0.622																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3292-3294)tCc>tTc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						56.0	51.0	53.0					12																	13716879		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716879G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3293C>T	12.37:g.13716879G>A	ENSP00000477455:p.Ser1098Phe						p.S1098F	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	3502	-			1098					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3293C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358348	0.24598	.	.	ENSG00000150086	ENST00000279593	T	0.11821	2.74	5.4	5.4	0.78164	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.119611	0.64402	D	0.000015	T	0.13372	0.0324	L	0.38838	1.175	0.80722	D	1	B	0.15719	0.014	B	0.17979	0.02	T	0.12218	-1.0556	10	0.12430	T	0.62	.	19.1729	0.93588	0.0:0.0:1.0:0.0	.	1098	Q13224	NMDE2_HUMAN	F	1098	ENSP00000279593:S1098F	ENSP00000279593:S1098F	S	-	2	0	GRIN2B	13608146	1.000000	0.71417	0.994000	0.49952	0.791000	0.44710	9.377000	0.97184	2.536000	0.85505	0.655000	0.94253	TCC		0.622	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			13	38	0	0	0	1	0	13	38				
RNF121	55298	broad.mit.edu	37	11	71671926	71671926	+	Missense_Mutation	SNP	C	C	T	rs558215963		TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr11:71671926C>T	ENST00000361756.3	+	3	593	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	RNF121_ENST00000393713.3_Missense_Mutation_p.R46C|RNF121_ENST00000533380.1_Missense_Mutation_p.R46C|RNF121_ENST00000545854.1_5'UTR|RNF121_ENST00000530137.1_Missense_Mutation_p.R46C|RNF121_ENST00000490867.1_3'UTR	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	78						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						GAGGCACCCACGCTCCTACAA	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		20521	0.0		0.0	False		,,,				2504	0.001					ENST00000361756.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						c.(232-234)Cgc>Tgc		ring finger protein 121							120.0	94.0	103.0					11																	71671926		2200	4293	6493	SO:0001583	missense	55298					integral to membrane	zinc ion binding	g.chr11:71671926C>T	AK001961	CCDS8203.1, CCDS73343.1	11q13.3	2008-02-05			ENSG00000137522	ENSG00000137522		"""RING-type (C3HC4) zinc fingers"""	21070	protein-coding gene	gene with protein product							Standard	NM_018320		Approved	FLJ11099	uc001ora.3	Q9H920	OTTHUMG00000157023	ENST00000361756.3:c.232C>T	11.37:g.71671926C>T	ENSP00000354571:p.Arg78Cys					RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000545854.1_5'UTR|RNF121_ENST00000393713.3_Missense_Mutation_p.R46C|RNF121_ENST00000533380.1_Missense_Mutation_p.R46C|RNF121_ENST00000530137.1_Missense_Mutation_p.R46C	p.R78C	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN			3	593	+			78					B3KSW8|Q6IA57|Q6P449|Q96DB4	Missense_Mutation	SNP	ENST00000361756.3	37	c.232C>T	CCDS8203.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369259	0.82463	.	.	ENSG00000137522	ENST00000361756;ENST00000533380;ENST00000393713;ENST00000530137	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	5.5	5.5	0.81552	.	0.058929	0.64402	D	0.000003	T	0.79587	0.4471	M	0.74647	2.275	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.996	P;P;P	0.59703	0.862;0.785;0.65	T	0.82084	-0.0632	10	0.87932	D	0	.	16.9034	0.86119	0.0:1.0:0.0:0.0	.	46;46;78	C9JQY5;G3V148;Q9H920	.;.;RN121_HUMAN	C	78;46;46;46	ENSP00000354571:R78C;ENSP00000433574:R46C;ENSP00000377316:R46C;ENSP00000431286:R46C	ENSP00000354571:R78C	R	+	1	0	RNF121	71349574	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	5.584000	0.67490	2.588000	0.87417	0.655000	0.94253	CGC		0.537	RNF121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347132.1	NM_018320		18	29	0	0	0	1	0	18	29				
ZNF628	89887	broad.mit.edu	37	19	55994210	55994210	+	Silent	SNP	G	G	A			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr19:55994210G>A	ENST00000598519.1	+	3	2203	c.1650G>A	c.(1648-1650)acG>acA	p.T550T	NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank|ZNF628_ENST00000391718.2_Silent_p.T546T			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	550					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)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TCCGCAACACGTCGTGCCTGC	0.682																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(1636-1638)acG>acA		zinc finger protein 628							28.0	30.0	30.0					19																	55994210		2202	4298	6500	SO:0001819	synonymous_variant	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55994210G>A	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.1650G>A	19.37:g.55994210G>A						ZNF628_ENST00000598519.1_Silent_p.T550T	p.T546T			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	2203	+	Breast(117;0.155)		546					Q86X34	Silent	SNP	ENST00000598519.1	37	c.1638G>A	CCDS33116.3																																																																																				0.682	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		9	16	0	0	0	1	0	9	16				
DHTKD1	55526	broad.mit.edu	37	10	12111037	12111037	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr10:12111037C>T	ENST00000263035.4	+	1	67	c.5C>T	c.(4-6)gCc>gTc	p.A2V		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	2					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GTGAACATGGCCTCTGCTACT	0.697																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(4-6)gCc>gTc		dehydrogenase E1 and transketolase domain containing 1							20.0	27.0	25.0					10																	12111037		2197	4291	6488	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12111037C>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.5C>T	10.37:g.12111037C>T	ENSP00000263035:p.Ala2Val						p.A2V	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		1	67	+		Renal(717;0.228)	2					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.5C>T	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339877	0.60963	.	.	ENSG00000181192	ENST00000263035;ENST00000437298	T;T	0.18810	3.52;2.19	3.97	3.03	0.35002	.	2.058720	0.02559	N	0.096540	T	0.17109	0.0411	N	0.22421	0.69	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.15037	-1.0451	10	0.87932	D	0	.	6.4551	0.21926	0.0:0.7882:0.0:0.2118	.	2	Q96HY7	DHTK1_HUMAN	V	2	ENSP00000263035:A2V;ENSP00000388163:A2V	ENSP00000263035:A2V	A	+	2	0	DHTKD1	12151043	0.967000	0.33354	0.922000	0.36590	0.215000	0.24574	1.228000	0.32588	2.060000	0.61445	0.650000	0.86243	GCC		0.697	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		11	11	0	0	0	1	0	11	11				
PHRF1	57661	broad.mit.edu	37	11	608013	608013	+	Missense_Mutation	SNP	G	G	A	rs201862192		TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr11:608013G>A	ENST00000264555.5	+	14	2685	c.2557G>A	c.(2557-2559)Ggc>Agc	p.G853S	PHRF1_ENST00000413872.2_Missense_Mutation_p.G851S|PHRF1_ENST00000416188.2_Missense_Mutation_p.G852S|PHRF1_ENST00000533464.1_Missense_Mutation_p.G849S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	853					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GTCTGGCCCCGGCCTCCTGCC	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		14603	0.001		0.0	False		,,,				2504	0.0					ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(2557-2559)Ggc>Agc		PHD and ring finger domains 1		G	SER/GLY	0,4072		0,0,2036	55.0	66.0	62.0		2554	-2.5	0.0	11		62	1,8357		0,1,4178	yes	missense	PHRF1	NM_020901.2	56	0,1,6214	AA,AG,GG		0.012,0.0,0.0080	possibly-damaging	852/1649	608013	1,12429	2036	4179	6215	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:608013G>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2557G>A	11.37:g.608013G>A	ENSP00000264555:p.Gly853Ser					PHRF1_ENST00000416188.2_Missense_Mutation_p.G852S|PHRF1_ENST00000413872.2_Missense_Mutation_p.G851S|PHRF1_ENST00000533464.1_Missense_Mutation_p.G849S	p.G853S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			14	2685	+			853					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.2557G>A		.	.	.	.	.	.	.	.	.	.	G	9.963	1.223442	0.22457	0.0	1.2E-4	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.81163	-1.46;-1.45;-1.46;-1.46	4.98	-2.46	0.06461	.	0.527258	0.15757	N	0.246158	T	0.64023	0.2561	L	0.32530	0.975	0.09310	N	1	B;B;B;B	0.30021	0.173;0.265;0.265;0.173	B;B;B;B	0.20577	0.013;0.03;0.03;0.013	T	0.48658	-0.9016	10	0.19590	T	0.45	-10.8252	11.2405	0.48966	0.4614:0.0:0.5386:0.0	.	849;851;852;853	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	S	853;851;852;849	ENSP00000264555:G853S;ENSP00000388589:G851S;ENSP00000410626:G852S;ENSP00000431870:G849S	ENSP00000264555:G853S	G	+	1	0	PHRF1	598013	0.020000	0.18652	0.000000	0.03702	0.069000	0.16628	0.385000	0.20685	-0.516000	0.06470	-0.350000	0.07774	GGC		0.667	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		49	64	0	0	0	1	0	49	64				
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G	rs575896136	byFrequency	TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000359524.5_Silent_p.Q51Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0.0	5008	,	,		7675	0.002		0.0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10.0	15.0	14.0					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		5	22	0	0	0	1	0	5	22				
CHRNA7	1139	broad.mit.edu	37	15	32460275	32460275	+	Silent	SNP	G	G	A	rs201805261		TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr15:32460275G>A	ENST00000306901.3	+	10	1222	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A	CHRNA7_ENST00000454250.3_Silent_p.A404A|CHRNA7_ENST00000455693.2_Silent_p.A194A	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	375				A -> G (in Ref. 1; CAA49778). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCGCCGTGGCGCCGCCGCCCG	0.706																																					Esophageal Squamous(193;529 2900 40232 43193)	ENST00000306901.3																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12						c.(1123-1125)gcG>gcA		cholinergic receptor, nicotinic, alpha 7 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						30.0	39.0	36.0					15																	32460275		2195	4296	6491	SO:0001819	synonymous_variant	1139				activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding	g.chr15:32460275G>A	Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1960	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 7 (neuronal)"""	118511	"""cholinergic receptor, nicotinic, alpha polypeptide 7"""			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1125G>A	15.37:g.32460275G>A						CHRNA7_ENST00000455693.2_Silent_p.A194A|CHRNA7_ENST00000454250.3_Silent_p.A404A	p.A375A	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	10	1222	+		all_lung(180;6.35e-11)	375	A -> G (in Ref. 1; CAA49778).				A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Silent	SNP	ENST00000306901.3	37	c.1125G>A	CCDS10027.1																																																																																				0.706	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251410.2			24	61	0	0	0	1	0	24	61				
FHOD1	29109	broad.mit.edu	37	16	67270959	67270959	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr16:67270959C>T	ENST00000258201.4	-	10	1299	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	351	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TCGTCGTTCCCGCCGCCCACC	0.617																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(1051-1053)cGg>cAg		formin homology 2 domain containing 1							53.0	58.0	56.0					16																	67270959		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67270959C>T	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.1052G>A	16.37:g.67270959C>T	ENSP00000258201:p.Arg351Gln					FHOD1_ENST00000567687.1_Intron	p.R351Q	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	10	1299	-		Ovarian(137;0.0563)	351			GBD/FH3.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.1052G>A	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773948	0.69992	.	.	ENSG00000135723	ENST00000258201	T	0.26518	1.73	5.93	4.97	0.65823	GTPase-binding/formin homology 3 (1);	0.207753	0.40554	N	0.001071	T	0.15435	0.0372	N	0.20986	0.625	0.80722	D	1	D	0.52996	0.957	B	0.36378	0.223	T	0.01993	-1.1233	10	0.59425	D	0.04	.	12.4955	0.55925	0.0:0.921:0.0:0.079	.	351	Q9Y613	FHOD1_HUMAN	Q	351	ENSP00000258201:R351Q	ENSP00000258201:R351Q	R	-	2	0	FHOD1	65828460	0.993000	0.37304	1.000000	0.80357	0.936000	0.57629	2.030000	0.41108	2.814000	0.96858	0.655000	0.94253	CGG		0.617	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			46	64	0	0	0	1	0	46	64				
SLC35E1	79939	broad.mit.edu	37	19	16664638	16664638	+	Missense_Mutation	SNP	C	C	T	rs147619010		TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr19:16664638C>T	ENST00000595753.1	-	6	1102	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	CTD-3222D19.2_ENST00000409035.1_3'UTR|CTD-3222D19.11_ENST00000597357.1_RNA|SLC35E1_ENST00000593812.1_5'Flank	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	362					transport (GO:0006810)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						CAGTGGGCTCCGGTGACGCTC	0.587																																						ENST00000595753.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						c.(1084-1086)cGg>cAg		solute carrier family 35, member E1		C	GLN/ARG	0,4406		0,0,2203	100.0	93.0	95.0		1085	4.5	0.1	19	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC35E1	NM_024881.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	362/411	16664638	1,13005	2203	4300	6503	SO:0001583	missense	79939				transport	integral to membrane		g.chr19:16664638C>T	AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"""Solute carriers"""	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.1085G>A	19.37:g.16664638C>T	ENSP00000470652:p.Arg362Gln					CTD-3222D19.2_ENST00000409035.1_3'UTR	p.R362Q	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN			6	1102	-			362					Q8NBQ2|Q96JV7	Missense_Mutation	SNP	ENST00000595753.1	37	c.1085G>A	CCDS12346.2	.	.	.	.	.	.	.	.	.	.	C	10.48	1.363387	0.24684	0.0	1.16E-4	ENSG00000127526	ENST00000409648;ENST00000421082	.	.	.	4.53	4.53	0.55603	.	0.340158	0.31199	N	0.008061	T	0.29061	0.0722	N	0.12182	0.205	0.80722	D	1	B	0.14438	0.01	B	0.06405	0.002	T	0.11717	-1.0576	9	0.08381	T	0.77	-19.4739	10.0107	0.41984	0.0:0.9075:0.0:0.0925	.	362	Q96K37	S35E1_HUMAN	Q	362;113	.	ENSP00000387152:R362Q	R	-	2	0	SLC35E1	16525638	0.477000	0.25909	0.069000	0.20011	0.495000	0.33615	1.251000	0.32862	2.079000	0.62486	0.561000	0.74099	CGG		0.587	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326809.2	NM_024881		23	45	0	0	0	1	0	23	45				
RUNX2	860	broad.mit.edu	37	6	45390463	45390463	+	Silent	SNP	G	G	A			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000359524.5_Silent_p.Q50Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)caG>caA		runt-related transcription factor 2							11.0	16.0	14.0					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390463G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.192G>A	6.37:g.45390463G>A						RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q	p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	550	+			64			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.192G>A	CCDS43467.2																																																																																				0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		5	24	0	0	0	1	0	5	24				
NELL1	4745	broad.mit.edu	37	11	21135236	21135236	+	Missense_Mutation	SNP	C	C	T	rs371025282		TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr11:21135236C>T	ENST00000357134.5	+	13	1554	c.1402C>T	c.(1402-1404)Cgt>Tgt	p.R468C	NELL1_ENST00000325319.5_Missense_Mutation_p.R411C|NELL1_ENST00000298925.5_Missense_Mutation_p.R496C|NELL1_ENST00000532434.1_Missense_Mutation_p.R468C	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	468	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGGATACATTCGTGTGGATGA	0.403																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(1486-1488)Cgt>Tgt		NEL-like 1 (chicken)		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	339.0	284.0	303.0		1402,1402	5.3	1.0	11		303	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NELL1	NM_006157.3,NM_201551.1	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	468/811,468/764	21135236	1,13005	2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21135236C>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1402C>T	11.37:g.21135236C>T	ENSP00000349654:p.Arg468Cys					NELL1_ENST00000532434.1_Missense_Mutation_p.R468C|NELL1_ENST00000325319.5_Missense_Mutation_p.R411C|NELL1_ENST00000357134.5_Missense_Mutation_p.R468C	p.R496C			Q92832	NELL1_HUMAN			14	1639	+			468			EGF-like 3.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.1486C>T	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595215	0.66219	0.0	1.16E-4	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	5.29	5.29	0.74685	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.95310	0.8478	M	0.62723	1.935	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.562;0.999	D;D;B;D	0.87578	0.996;0.998;0.148;0.99	D	0.95552	0.8621	10	0.66056	D	0.02	-22.1431	17.1145	0.86685	0.0:1.0:0.0:0.0	.	411;496;468;468	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	C	496;468;411;468	ENSP00000298925:R496C;ENSP00000349654:R468C;ENSP00000317837:R411C;ENSP00000437170:R468C	ENSP00000298925:R496C	R	+	1	0	NELL1	21091812	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.520000	0.60524	2.470000	0.83445	0.591000	0.81541	CGT		0.403	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		16	49	0	0	0	1	0	16	49				
CLCNKB	1188	broad.mit.edu	37	1	16376374	16376374	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr1:16376374A>T	ENST00000375679.4	+	10	1042	c.931A>T	c.(931-933)Agg>Tgg	p.R311W	CLCNKB_ENST00000375667.3_Missense_Mutation_p.R142W	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	311					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCTTCATCAGGAACAATAG	0.607																																						ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21						c.(931-933)Agg>Tgg		chloride channel, voltage-sensitive Kb							164.0	152.0	156.0					1																	16376374		2203	4300	6503	SO:0001583	missense	1188							g.chr1:16376374A>T	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.931A>T	1.37:g.16376374A>T	ENSP00000364831:p.Arg311Trp					CLCNKB_ENST00000375667.3_Missense_Mutation_p.R142W	p.R311W	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	10	1042	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	ENST00000375679.4	37	c.931A>T	CCDS168.1	.	.	.	.	.	.	.	.	.	.	a	17.43	3.387434	0.61956	.	.	ENSG00000184908	ENST00000375679;ENST00000375667	D;D	0.95238	-3.65;-3.65	4.71	3.51	0.40186	Chloride channel, core (2);	0.414112	0.27486	N	0.019155	D	0.96858	0.8974	M	0.87038	2.855	0.09310	N	1	D;D	0.60575	0.988;0.971	D;P	0.64687	0.928;0.823	D	0.91482	0.5205	10	0.87932	D	0	.	11.9297	0.52839	0.8444:0.1556:0.0:0.0	.	142;311	Q5T5Q7;P51801	.;CLCKB_HUMAN	W	311;142	ENSP00000364831:R311W;ENSP00000364819:R142W	ENSP00000364819:R142W	R	+	1	2	CLCNKB	16248961	0.000000	0.05858	0.010000	0.14722	0.008000	0.06430	0.663000	0.25053	1.763000	0.52060	0.459000	0.35465	AGG		0.607	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		38	79	0	0	0	1	0	38	79				
DAAM2	23500	broad.mit.edu	37	6	39869739	39869739	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr6:39869739C>T	ENST00000398904.2	+	25	3315	c.3133C>T	c.(3133-3135)Cgc>Tgc	p.R1045C	DAAM2_ENST00000538976.1_Missense_Mutation_p.R1044C|RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.R1045C			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	1045	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAAGCTCAAGCGCAGCCGCAA	0.612																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(3130-3132)Cgc>Tgc		dishevelled associated activator of morphogenesis 2							35.0	43.0	40.0					6																	39869739		2026	4182	6208	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39869739C>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.3133C>T	6.37:g.39869739C>T	ENSP00000381876:p.Arg1045Cys					DAAM2_ENST00000274867.4_Missense_Mutation_p.R1045C|DAAM2_ENST00000398904.2_Missense_Mutation_p.R1045C	p.R1044C	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			25	3312	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		1045			DAD.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.3130C>T	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387249	0.82902	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.83250	-1.67;-1.67;-1.7	5.42	2.37	0.29283	Diaphanous autoregulatory (1);	0.000000	0.85682	D	0.000000	D	0.84437	0.5472	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	D	0.85306	0.1076	10	0.87932	D	0	.	9.0682	0.36475	0.2372:0.6909:0.0:0.0718	.	1044;1045	G5EA45;Q86T65	.;DAAM2_HUMAN	C	1045;1045;1044	ENSP00000274867:R1045C;ENSP00000381876:R1045C;ENSP00000437808:R1044C	ENSP00000274867:R1045C	R	+	1	0	DAAM2	39977717	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.916000	0.56416	1.283000	0.44513	0.650000	0.86243	CGC		0.612	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			21	26	0	0	0	1	0	21	26				
MYOF	26509	broad.mit.edu	37	10	95159250	95159250	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr10:95159250C>T	ENST00000359263.4	-	13	1119	c.1120G>A	c.(1120-1122)Gat>Aat	p.D374N	MYOF_ENST00000371501.4_Missense_Mutation_p.D374N|MYOF_ENST00000371489.1_Missense_Mutation_p.D374N|MYOF_ENST00000371502.4_Missense_Mutation_p.D374N|MYOF_ENST00000358334.5_Missense_Mutation_p.D374N	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	374	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGGCATCATCCACTGGAAGG	0.338																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(1120-1122)Gat>Aat		myoferlin							53.0	48.0	49.0					10																	95159250		1823	4078	5901	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95159250C>T	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.1120G>A	10.37:g.95159250C>T	ENSP00000352208:p.Asp374Asn					MYOF_ENST00000371489.1_Missense_Mutation_p.D374N|MYOF_ENST00000359263.4_Missense_Mutation_p.D374N|MYOF_ENST00000358334.5_Missense_Mutation_p.D374N|MYOF_ENST00000371502.4_Missense_Mutation_p.D374N	p.D374N			Q9NZM1	MYOF_HUMAN			13	1242	-			374			C2 3.		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.1120G>A	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119085	0.94385	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502;ENST00000371489	D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13	5.69	5.69	0.88448	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.98280	0.9430	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	0.968;1.0;1.0	D;D;D	0.97110	0.939;0.996;1.0	D	0.98816	1.0745	10	0.72032	D	0.01	-23.4283	19.8246	0.96612	0.0:1.0:0.0:0.0	.	356;374;374	Q9NZM1-8;Q9NZM1-6;Q9NZM1	.;.;MYOF_HUMAN	N	374	ENSP00000351094:D374N;ENSP00000352208:D374N;ENSP00000360556:D374N;ENSP00000360557:D374N;ENSP00000360544:D374N	ENSP00000351094:D374N	D	-	1	0	MYOF	95149240	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	7.794000	0.85869	2.676000	0.91093	0.563000	0.77884	GAT		0.338	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		4	8	0	0	0	1	0	4	8				
MEGF10	84466	broad.mit.edu	37	5	126784895	126784895	+	Silent	SNP	C	C	T	rs373066612		TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr5:126784895C>T	ENST00000274473.6	+	23	3228	c.2961C>T	c.(2959-2961)ggC>ggT	p.G987G	MEGF10_ENST00000510828.1_3'UTR|MEGF10_ENST00000503335.2_Silent_p.G987G	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	987	Necessary for formation of large intracellular vacuoles.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GGAAACATGGCGGCTACCTCA	0.527																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(2959-2961)ggC>ggT		multiple EGF-like-domains 10		C		0,4406		0,0,2203	73.0	75.0	75.0		2961	-2.1	0.8	5		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MEGF10	NM_032446.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		987/1141	126784895	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126784895C>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2961C>T	5.37:g.126784895C>T						MEGF10_ENST00000503335.2_Silent_p.G987G|MEGF10_ENST00000510828.1_3'UTR	p.G987G	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	23	3228	+		Prostate(80;0.165)	987			Necessary for formation of large intracellular vacuoles.		Q68DE5|Q8WUL3	Silent	SNP	ENST00000274473.6	37	c.2961C>T	CCDS4142.1																																																																																				0.527	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		10	76	0	0	0	1	0	10	76				
ABCC4	10257	broad.mit.edu	37	13	95858797	95858797	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr13:95858797G>A	ENST00000376887.4	-	8	1264	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	ABCC4_ENST00000431522.1_Nonsense_Mutation_p.R384*|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Nonsense_Mutation_p.R309*|ABCC4_ENST00000412704.1_Nonsense_Mutation_p.R384*	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	384					blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TGGATTCTTCGGATGCTGACG	0.483																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(1150-1152)Cga>Tga		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						94.0	88.0	90.0					13																	95858797		2203	4300	6503	SO:0001587	stop_gained	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95858797G>A	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1150C>T	13.37:g.95858797G>A	ENSP00000366084:p.Arg384*					ABCC4_ENST00000536256.1_Nonsense_Mutation_p.R309*|ABCC4_ENST00000412704.1_Nonsense_Mutation_p.R384*|ABCC4_ENST00000431522.1_Nonsense_Mutation_p.R384*|ABCC4_ENST00000538287.1_3'UTR	p.R384*	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			8	1264	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		384					A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Nonsense_Mutation	SNP	ENST00000376887.4	37	c.1150C>T	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	G	37	6.499535	0.97616	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	.	.	.	5.34	1.07	0.20283	.	0.398379	0.25848	N	0.027915	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5309	0.67926	0.0:0.0:0.39:0.6099	.	.	.	.	X	384;384;309;384	.	ENSP00000366084:R384X	R	-	1	2	ABCC4	94656798	0.001000	0.12720	0.993000	0.49108	0.985000	0.73830	0.597000	0.24059	0.556000	0.29098	0.655000	0.94253	CGA		0.483	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		10	33	0	0	0	1	0	10	33				
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	191						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(571-573)atT>atC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296167A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.573T>C	17.37:g.39296167A>G							p.I191I	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	572	-			187					Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.573T>C	CCDS54125.1																																																																																				0.627	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			4	13	0	0	0	1	0	4	13				
ZNF208	7757	broad.mit.edu	37	19	22157142	22157142	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr19:22157142T>G	ENST00000397126.4	-	4	842	c.694A>C	c.(694-696)Aaa>Caa	p.K232Q	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCACATTCTTTACATCTGTAG	0.383																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(694-696)Aaa>Caa		zinc finger protein 208							47.0	52.0	50.0					19																	22157142		2092	4231	6323	SO:0001583	missense	7757							g.chr19:22157142T>G	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.694A>C	19.37:g.22157142T>G	ENSP00000380315:p.Lys232Gln					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.K232Q	NM_007153.3	NP_009084.2					4	842	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.694A>C	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.867321	0.32977	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.19806	2.12	2.93	-1.2	0.09554	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23289	0.0563	.	.	.	0.09310	N	1	D	0.56521	0.976	P	0.58013	0.831	T	0.11227	-1.0596	8	0.24483	T	0.36	.	0.7892	0.01054	0.306:0.1094:0.31:0.2745	.	232	O43345	ZN208_HUMAN	Q	232	ENSP00000380315:K232Q	ENSP00000380315:K232Q	K	-	1	0	ZNF208	21948982	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-2.813000	0.00753	-1.114000	0.02977	-0.736000	0.03550	AAA		0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		15	24	0	0	0	1	0	15	24				
EGFR	1956	broad.mit.edu	37	7	55223567	55223567	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr7:55223567G>T	ENST00000275493.2	+	8	1111	c.934G>T	c.(934-936)Ggg>Tgg	p.G312W	EGFR_ENST00000442591.1_Missense_Mutation_p.G312W|EGFR_ENST00000344576.2_Missense_Mutation_p.G312W|EGFR_ENST00000342916.3_Missense_Mutation_p.G312W|EGFR_ENST00000454757.2_Missense_Mutation_p.G259W|EGFR_ENST00000420316.2_Missense_Mutation_p.G312W|EGFR_ENST00000455089.1_Missense_Mutation_p.G267W	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	312					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCGAGCCTGTGGGGCCGACAG	0.607		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(934-936)Ggg>Tgg		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						53.0	50.0	51.0					7																	55223567		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55223567G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.934G>T	7.37:g.55223567G>T	ENSP00000275493:p.Gly312Trp	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Missense_Mutation_p.G312W|EGFR_ENST00000342916.3_Missense_Mutation_p.G312W|EGFR_ENST00000454757.2_Missense_Mutation_p.G259W|EGFR_ENST00000420316.2_Missense_Mutation_p.G312W|EGFR_ENST00000344576.2_Missense_Mutation_p.G312W|EGFR_ENST00000455089.1_Missense_Mutation_p.G267W	p.G312W	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		8	1111	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		312					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.934G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425581	0.43020	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.64	0.887	0.19200	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.168730	0.64402	D	0.000006	D	0.87422	0.6173	L	0.50333	1.59	0.26567	N	0.973629	D;P;D;D;D	0.76494	0.989;0.844;0.999;0.996;0.992	P;P;D;P;P	0.70716	0.819;0.808;0.97;0.896;0.827	T	0.79403	-0.1818	10	0.87932	D	0	.	8.8755	0.35343	0.8201:0.0:0.1799:0.0	.	267;312;312;312;312	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	W	267;312;182;312;312;312;312;259;106	ENSP00000415559:G267W;ENSP00000342376:G312W;ENSP00000345973:G312W;ENSP00000413843:G312W;ENSP00000275493:G312W;ENSP00000410031:G312W;ENSP00000395243:G259W	ENSP00000275493:G312W	G	+	1	0	EGFR	55191061	0.309000	0.24518	0.134000	0.22075	0.084000	0.17831	2.561000	0.45905	0.231000	0.21079	0.655000	0.94253	GGG		0.607	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		65	61	1	0	7.73544e-29	1	8.5497e-29	65	61				
FAN1	22909	broad.mit.edu	37	15	31197979	31197979	+	Silent	SNP	T	T	C			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr15:31197979T>C	ENST00000362065.4	+	2	1404	c.1113T>C	c.(1111-1113)ggT>ggC	p.G371G	FAN1_ENST00000561594.1_Silent_p.G371G|FAN1_ENST00000565466.1_Silent_p.G371G|FAN1_ENST00000561607.1_Silent_p.G371G	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	371					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						AAACAACCGGTCATCCTTACT	0.463								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(1111-1113)ggT>ggC	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							175.0	165.0	169.0					15																	31197979		2202	4300	6502	SO:0001819	synonymous_variant	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31197979T>C		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.1113T>C	15.37:g.31197979T>C						FAN1_ENST00000561607.1_Silent_p.G371G|FAN1_ENST00000565466.1_Silent_p.G371G|FAN1_ENST00000561594.1_Silent_p.G371G	p.G371G	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			2	1404	+			371					A8K4M2|Q86WU8	Silent	SNP	ENST00000362065.4	37	c.1113T>C	CCDS32186.1																																																																																				0.463	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		8	86	0	0	0	1	0	8	86				
GALNT15	117248	broad.mit.edu	37	3	16216929	16216929	+	Missense_Mutation	SNP	C	C	T	rs377515842		TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr3:16216929C>T	ENST00000339732.5	+	1	774	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	GALNT15_ENST00000470031.1_3'UTR|GALNT15_ENST00000437509.1_Missense_Mutation_p.R91W	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	91					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TATCTCACTGCGGGAGGATCA	0.617																																						ENST00000339732.5																			0											c.(271-273)Cgg>Tgg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15		C	TRP/ARG	0,4406		0,0,2203	52.0	54.0	53.0		271	2.3	1.0	3		53	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNTL2	NM_054110.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	91/640	16216929	1,13005	2203	4300	6503	SO:0001583	missense	117248							g.chr3:16216929C>T	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.271C>T	3.37:g.16216929C>T	ENSP00000344260:p.Arg91Trp					GALNT15_ENST00000470031.1_3'UTR|GALNT15_ENST00000437509.1_Missense_Mutation_p.R91W	p.R91W	NM_054110.4	NP_473451.3					1	774	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	c.271C>T	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395251	0.62066	0.0	1.16E-4	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.60040	0.45;0.22	4.29	2.31	0.28768	.	.	.	.	.	T	0.42223	0.1193	N	0.08118	0	0.25319	N	0.989133	D	0.67145	0.996	P	0.46885	0.53	T	0.35301	-0.9794	9	0.72032	D	0.01	.	11.8115	0.52185	0.4225:0.5775:0.0:0.0	.	91	Q8N3T1	GLTL2_HUMAN	W	91	ENSP00000344260:R91W;ENSP00000395873:R91W	ENSP00000344260:R91W	R	+	1	2	GALNTL2	16191933	0.680000	0.27605	0.993000	0.49108	0.979000	0.70002	0.029000	0.13666	0.941000	0.37499	0.442000	0.29010	CGG		0.617	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		14	23	0	0	0	1	0	14	23				
MUC6	4588	broad.mit.edu	37	11	1025072	1025072	+	Nonsense_Mutation	SNP	G	G	T	rs375951643		TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr11:1025072G>T	ENST00000421673.2	-	24	3047	c.2997C>A	c.(2995-2997)tgC>tgA	p.C999*		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	999	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)		CACACAAGCCGCAGAGGGGAT	0.647																																						ENST00000421673.2																			0				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						c.(2995-2997)tgC>tgA		mucin 6, oligomeric mucus/gel-forming							28.0	36.0	33.0					11																	1025072		2059	4176	6235	SO:0001587	stop_gained	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1025072G>T	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.2997C>A	11.37:g.1025072G>T	ENSP00000406861:p.Cys999*						p.C999*	NM_005961.2	NP_005952.2	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)	24	3047	-		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)	999			VWFD 3.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Nonsense_Mutation	SNP	ENST00000421673.2	37	c.2997C>A	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	38	7.112969	0.98070	.	.	ENSG00000184956	ENST00000421673	.	.	.	3.9	-0.79	0.10932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1852	0.42993	0.7758:0.0:0.2242:0.0	.	.	.	.	X	999	.	ENSP00000406861:C999X	C	-	3	2	MUC6	1015072	0.022000	0.18835	0.973000	0.42090	0.413000	0.31143	-0.695000	0.05109	-0.239000	0.09710	-0.265000	0.10407	TGC		0.647	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		14	24	1	0	3.27435e-08	1	3.52623e-08	14	24				
ALKBH1	8846	broad.mit.edu	37	14	78174327	78174327	+	Silent	SNP	G	G	A			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr14:78174327G>A	ENST00000216489.3	-	1	36	c.21C>T	c.(19-21)gcC>gcT	p.A7A	SLIRP_ENST00000557431.1_5'Flank|SLIRP_ENST00000557623.1_5'Flank|SLIRP_ENST00000557342.1_5'Flank|SLIRP_ENST00000238688.5_5'Flank	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	7					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CAGAGCCCACGGCCGCTGCCA	0.637																																						ENST00000216489.3																			0				endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						c.(19-21)gcC>gcT		alkB, alkylation repair homolog 1 (E. coli)							24.0	28.0	27.0					14																	78174327		2198	4295	6493	SO:0001819	synonymous_variant	8846				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:78174327G>A	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"""Alkylation repair homologs"""	17911	protein-coding gene	gene with protein product		605345	"""alkB, alkylation repair homolog (E. coli)"""	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.21C>T	14.37:g.78174327G>A							p.A7A	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	1	36	-			7					Q8TAU1|Q9ULA7	Silent	SNP	ENST00000216489.3	37	c.21C>T	CCDS32127.1																																																																																				0.637	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		23	28	0	0	0	1	0	23	28				
SLC16A6	9120	broad.mit.edu	37	17	66266980	66266980	+	Splice_Site	SNP	C	C	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr17:66266980C>T	ENST00000327268.4	-	6	1485	c.1321G>A	c.(1321-1323)Ggt>Agt	p.G441S	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Splice_Site_p.G441S	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	441					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TTTAAATTACCTGCAAGGGGC	0.433																																						ENST00000327268.4																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.e6+1		solute carrier family 16, member 6	Pyruvic acid(DB00119)						46.0	45.0	45.0					17																	66266980		2203	4300	6503	SO:0001630	splice_region_variant	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66266980C>T	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.1321+1G>A	17.37:g.66266980C>T						SLC16A6_ENST00000580666.1_Splice_Site_p.G441_splice|ARSG_ENST00000448504.2_Intron	p.G441_splice	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	1485	-	all_cancers(12;1.24e-09)		441					Q6P1X3	Splice_Site	SNP	ENST00000327268.4	37	c.1321_splice	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	C	32	5.105088	0.94245	.	.	ENSG00000108932	ENST00000327268	T	0.68624	-0.34	4.52	4.52	0.55395	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.056663	0.64402	D	0.000001	D	0.84170	0.5413	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87066	0.2156	9	.	.	.	.	16.4022	0.83644	0.0:1.0:0.0:0.0	.	441	O15403	MOT7_HUMAN	S	441	ENSP00000319991:G441S	.	G	-	1	0	SLC16A6	63778575	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.495000	0.81514	2.340000	0.79590	0.484000	0.47621	GGT		0.433	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694	Missense_Mutation	8	16	0	0	0	1	0	8	16				
TMEM200C	645369	broad.mit.edu	37	18	5891983	5891983	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr18:5891983C>T	ENST00000581347.2	-	3	725	c.80G>A	c.(79-81)cGc>cAc	p.R27H	TMEM200C_ENST00000383490.2_Missense_Mutation_p.R27H|RP11-945C19.4_ENST00000577694.1_RNA|RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	27						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TTTCCGCTTGCGCTTGGGTAT	0.612																																						ENST00000581347.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						c.(79-81)cGc>cAc		transmembrane protein 200C							74.0	81.0	79.0					18																	5891983		2109	4245	6354	SO:0001583	missense	645369					integral to membrane		g.chr18:5891983C>T		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.80G>A	18.37:g.5891983C>T	ENSP00000463375:p.Arg27His					RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R27H	p.R27H			A6NKL6	T200C_HUMAN			3	725	-			27						Missense_Mutation	SNP	ENST00000581347.2	37	c.80G>A	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635197	0.87760	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.83	4.83	0.62350	.	0.056947	0.64402	D	0.000003	T	0.77705	0.4170	M	0.61703	1.905	0.49051	D	0.999748	D	0.89917	1.0	D	0.85130	0.997	T	0.80027	-0.1554	9	0.66056	D	0.02	-14.5878	18.2993	0.90158	0.0:1.0:0.0:0.0	.	27	A6NKL6	T200C_HUMAN	H	27	.	ENSP00000372982:R27H	R	-	2	0	TMEM200C	5881983	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.843000	0.62838	2.376000	0.81061	0.557000	0.71058	CGC		0.612	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		15	17	0	0	0	1	0	15	17				
EGFR	1956	broad.mit.edu	37	7	55214348	55214348	+	Silent	SNP	C	C	T	rs2072454	byFrequency	TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr7:55214348C>T	ENST00000275493.2	+	4	651	c.474C>T	c.(472-474)aaC>aaT	p.N158N	EGFR_ENST00000442591.1_Silent_p.N158N|EGFR_ENST00000344576.2_Silent_p.N158N|EGFR_ENST00000342916.3_Silent_p.N158N|EGFR_ENST00000454757.2_Silent_p.N105N|EGFR_ENST00000420316.2_Silent_p.N158N|EGFR_ENST00000455089.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	158			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.N158N(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCCTGTGCAACGTGGAGAGCA	0.547		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			C|||	2381	0.475439	0.4932	0.4928	5008	,	,		18168	0.3522		0.4841	False		,,,				2504	0.5573					ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		1	Substitution - coding silent(1)	p.N158N(1)	central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(472-474)aaC>aaT		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	C	,,,	2183,2223	586.2+/-386.4	558,1067,578	113.0	95.0	101.0		474,474,474,474	2.0	1.0	7	dbSNP_96	101	4517,4083	592.7+/-393.0	1187,2143,970	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EGFR	NM_005228.3,NM_201282.1,NM_201283.1,NM_201284.1	,,,	1745,3210,1548	TT,TC,CC		47.4767,49.5461,48.4853	,,,	158/1211,158/629,158/406,158/706	55214348	6700,6306	2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55214348C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.474C>T	7.37:g.55214348C>T		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Silent_p.N158N|EGFR_ENST00000342916.3_Silent_p.N158N|EGFR_ENST00000454757.2_Silent_p.N105N|EGFR_ENST00000420316.2_Silent_p.N158N|EGFR_ENST00000344576.2_Silent_p.N158N|EGFR_ENST00000455089.1_Intron	p.N158N	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		4	651	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		158					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.474C>T	CCDS5514.1	992	0.4542124542124542	231	0.4695121951219512	169	0.46685082872928174	214	0.3741258741258741	378	0.49868073878627966	C	8.281	0.815468	0.16607	0.495461	0.525233	ENSG00000146648	ENST00000395504	.	.	.	5.6	1.99	0.26369	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.999999999685169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7571	0.34652	0.0:0.6122:0.0:0.3878	rs2072454;rs17289679;rs17516844;rs2072454	.	.	.	.	-1	.	.	.	+	.	.	EGFR	55181842	0.692000	0.27719	0.987000	0.45799	0.655000	0.38815	1.216000	0.32443	0.544000	0.28883	-0.136000	0.14681	.		0.547	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		71	53	0	0	0	1	0	71	53				
NTN5	126147	broad.mit.edu	37	19	49167879	49167879	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr19:49167879C>A	ENST00000270235.4	-	3	872	c.777G>T	c.(775-777)tgG>tgT	p.W259C	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	259	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.					extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						TAGGGTCCCTCCAGAACCCAG	0.667																																						ENST00000270235.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						c.(775-777)tgG>tgT		netrin 5							31.0	29.0	30.0					19																	49167879		2203	4300	6503	SO:0001583	missense	126147					extracellular region		g.chr19:49167879C>A		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"""Netrins"""	25208	protein-coding gene	gene with protein product	"""Netrin-5"""					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.777G>T	19.37:g.49167879C>A	ENSP00000270235:p.Trp259Cys					SEC1P_ENST00000430145.2_RNA	p.W259C	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN			3	872	-			259			Laminin EGF-like 2.		Q8N4X9|Q8WU63	Missense_Mutation	SNP	ENST00000270235.4	37	c.777G>T	CCDS33068.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996708	0.54147	.	.	ENSG00000142233	ENST00000270235	T	0.62364	0.03	5.12	5.12	0.69794	EGF-like, laminin (4);	0.290250	0.34932	N	0.003564	T	0.63248	0.2495	L	0.27053	0.805	0.43368	D	0.99545	D;D	0.64830	0.994;0.978	P;P	0.61722	0.893;0.645	T	0.65800	-0.6080	10	0.72032	D	0.01	.	10.0206	0.42041	0.0:0.9076:0.0:0.0924	.	259;259	Q8WTR8-2;Q8WTR8	.;NET5_HUMAN	C	259	ENSP00000270235:W259C	ENSP00000270235:W259C	W	-	3	0	NTN5	53859691	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.125000	0.31332	2.589000	0.87451	0.555000	0.69702	TGG		0.667	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		3	25	1	0	0.004672	1	0.00478595	3	25				
POLR2A	5430	broad.mit.edu	37	17	7412414	7412414	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr17:7412414G>A	ENST00000322644.6	+	21	4016	c.3617G>A	c.(3616-3618)cGa>cAa	p.R1206Q		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1206					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GATGTGGCCCGAATCTCCCCC	0.537																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(3616-3618)cGa>cAa		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							120.0	80.0	94.0					17																	7412414		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7412414G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.3617G>A	17.37:g.7412414G>A	ENSP00000314949:p.Arg1206Gln						p.R1206Q	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			21	4016	+		Prostate(122;0.173)	1206					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.3617G>A	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351184	0.95830	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.67171	-0.25	5.51	5.51	0.81932	RNA polymerase Rpb1, domain 5 (1);RNA polymerase Rpb1, domain 7 (1);	0.000000	0.64402	D	0.000002	T	0.65626	0.2709	M	0.67397	2.05	0.80722	D	1	P	0.35628	0.513	B	0.30105	0.111	T	0.69818	-0.5042	10	0.62326	D	0.03	-4.0017	18.2528	0.90009	0.0:0.0:1.0:0.0	.	1206	P24928	RPB1_HUMAN	Q	1162;105;1206	ENSP00000314949:R1206Q	ENSP00000314949:R1206Q	R	+	2	0	SLC35G6	7353138	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	9.049000	0.93837	2.611000	0.88343	0.449000	0.29647	CGA		0.537	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		3	24	0	0	0	1	0	3	24				
C1orf50	79078	broad.mit.edu	37	1	43233015	43233015	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr1:43233015delG	ENST00000372525.5	+	1	76	c.33delG	c.(31-33)gagfs	p.E11fs	C1orf50_ENST00000536543.1_5'UTR|LEPRE1_ENST00000236040.4_5'Flank|LEPRE1_ENST00000296388.5_5'Flank|LEPRE1_ENST00000397054.3_5'Flank	NM_024097.3	NP_077002.2	Q9BV19	CA050_HUMAN	chromosome 1 open reading frame 50	11										large_intestine(2)|ovary(1)|pancreas(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCGGACCGAGGGGGTCCTTG	0.701																																						ENST00000372525.5																			0				large_intestine(2)|ovary(1)|pancreas(1)	4						c.(31-33)gafs		chromosome 1 open reading frame 50							5.0	7.0	6.0					1																	43233015		2067	4109	6176	SO:0001589	frameshift_variant	79078							g.chr1:43233015delG	BC001711	CCDS473.1	1p34.2	2012-06-25			ENSG00000164008	ENSG00000164008			28795	protein-coding gene	gene with protein product						12477932	Standard	NM_024097		Approved	MGC955	uc001cia.4	Q9BV19	OTTHUMG00000007568	ENST00000372525.5:c.33delG	1.37:g.43233015delG	ENSP00000361603:p.Glu11fs					C1orf50_ENST00000536543.1_5'UTR	p.E11fs	NM_024097.3	NP_077002.2	Q9BV19	CA050_HUMAN			1	76	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	11						Frame_Shift_Del	DEL	ENST00000372525.5	37	c.33delG	CCDS473.1																																																																																				0.701	C1orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020001.2	NM_024097		2	4						2	4	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216420426	216420426	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr1:216420426delT	ENST00000307340.3	-	13	2696	c.2310delA	c.(2308-2310)aaafs	p.K770fs	USH2A_ENST00000366943.2_Frame_Shift_Del_p.K770fs|USH2A_ENST00000366942.3_Frame_Shift_Del_p.K770fs	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	770	Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTTGGCTTCTTTTTTGCACT	0.473										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(2308-2310)aafs		Usher syndrome 2A (autosomal recessive, mild)							134.0	131.0	132.0					1																	216420426		2203	4300	6503	SO:0001589	frameshift_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216420426delT	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2310delA	1.37:g.216420426delT	ENSP00000305941:p.Lys770fs	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Frame_Shift_Del_p.K770fs|USH2A_ENST00000366942.3_Frame_Shift_Del_p.K770fs	p.K770fs			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	13	2696	-			770			Laminin EGF-like 5.		Q5VVM9|Q6S362|Q9NS27	Frame_Shift_Del	DEL	ENST00000307340.3	37	c.2310delA	CCDS31025.1																																																																																				0.473	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		22	66						22	66	---	---	---	---
KRT16P6	353194	broad.mit.edu	37	17	16725606	16725607	+	RNA	INS	-	-	C	rs372586850	byFrequency	TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr17:16725606_16725607insC	ENST00000417510.1	-	0	286_287																											CGCCATAGCCGCCCCCCAGCCT	0.668													cccccc|CCCCCC|CCCCCCC|insertion	75	0.014976	0.0	0.0519	5008	,	,		15528	0.001		0.0249	False		,,,				2504	0.0133					ENST00000417510.1																			0																																																			0							g.chr17:16725606_16725607insC																													17.37:g.16725612_16725612dupC														0	286_287	-									RNA	INS	ENST00000417510.1	37																																																																																						0.668	AC022596.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131123.1			4	5						4	5	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40141606	40141607	+	In_Frame_Ins	INS	-	-	GCTTTA			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr20:40141606_40141607insGCTTTA	ENST00000373233.3	-	5	907_908	c.730_731insTAAAGC	c.(730-732)cgc>cTAAAGCgc	p.243_244insLK	CHD6_ENST00000373222.3_In_Frame_Ins_p.278_279insLK|CHD6_ENST00000309279.7_In_Frame_Ins_p.243_244insLK	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	243	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTATTTTCTGCGCTTTACTTGC	0.49																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(730-732)cag>TAAAGCcag		chromodomain helicase DNA binding protein 6																																				SO:0001652	inframe_insertion	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40141606_40141607insGCTTTA	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.725_730dupTAAAGC	20.37:g.40141607_40141612dupGCTTTA	ENSP00000362330:p.Lys243_Arg244insLeuLys					CHD6_ENST00000373222.3_In_Frame_Ins_p.278_279ins*S|CHD6_ENST00000309279.7_In_Frame_Ins_p.243_244ins*S	p.243_244ins*S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			5	907_908	-		Myeloproliferative disorder(115;0.00425)	243					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	In_Frame_Ins	INS	ENST00000373233.3	37	c.730_731insTAAAGC	CCDS13317.1																																																																																				0.490	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			57	243						57	243	---	---	---	---
