#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
GRM5	2915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	88780946	88780946	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr11:88780946G>A	ENST00000305447.4	-	1	244	c.95C>T	c.(94-96)cCg>cTg	p.P32L	GRM5_ENST00000455756.2_Missense_Mutation_p.P32L|GRM5_ENST00000305432.5_Missense_Mutation_p.P32L|GRM5_ENST00000393297.1_Missense_Mutation_p.P32L|GRM5_ENST00000418177.2_Missense_Mutation_p.P32L|GRM5_ENST00000393294.3_Missense_Mutation_p.P32L	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	32					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.P32Q(2)|p.P32L(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GATGTCACCCGGCATGTGAGC	0.502																																																3	Substitution - Missense(3)	lung(2)|central_nervous_system(1)											72.0	65.0	67.0					11																	88780946		2201	4299	6500	SO:0001583	missense	2915			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.95C>T	11.37:g.88780946G>A	ENSP00000306138:p.Pro32Leu		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301676	0.60195	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	5.93	5.93	0.95920	.	0.053050	0.85682	D	0.000000	D	0.87517	0.6197	M	0.61703	1.905	0.54753	D	0.999988	P;D;P	0.55800	0.838;0.973;0.955	B;B;B	0.43536	0.156;0.423;0.243	D	0.86749	0.1959	9	.	.	.	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	32;32;32	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	L	32	ENSP00000402912:P32L;ENSP00000405690:P32L;ENSP00000305905:P32L;ENSP00000306138:P32L;ENSP00000376975:P32L;ENSP00000376972:P32L	.	P	-	2	0	GRM5	88420594	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	4.744000	0.62118	2.802000	0.96397	0.563000	0.77884	CCG		0.502	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		14	35	14	35
PTPRR	5801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	71094989	71094989	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:71094989G>A	ENST00000283228.2	-	7	1574	c.1122C>T	c.(1120-1122)gcC>gcT	p.A374A	PTPRR_ENST00000378778.1_Silent_p.A168A|PTPRR_ENST00000549308.1_Silent_p.A129A|PTPRR_ENST00000342084.4_Silent_p.A262A|PTPRR_ENST00000440835.2_Silent_p.A129A	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	374					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GAATTCGGCTGGCTGACTGCA	0.453																																																0													172.0	153.0	160.0					12																	71094989		2203	4300	6503	SO:0001819	synonymous_variant	5801			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1122C>T	12.37:g.71094989G>A			B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Silent	SNP	ENST00000283228.2	37	CCDS8998.1																																																																																				0.453	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		314	348	314	348
PTPRR	5801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	71095000	71095000	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:71095000G>A	ENST00000283228.2	-	7	1563	c.1111C>T	c.(1111-1113)Ctg>Ttg	p.L371L	PTPRR_ENST00000378778.1_Silent_p.L165L|PTPRR_ENST00000549308.1_Silent_p.L126L|PTPRR_ENST00000342084.4_Silent_p.L259L|PTPRR_ENST00000440835.2_Silent_p.L126L	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	371					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GCTGACTGCAGATACTCCATT	0.468																																																0													171.0	150.0	157.0					12																	71095000		2203	4300	6503	SO:0001819	synonymous_variant	5801			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1111C>T	12.37:g.71095000G>A			B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Silent	SNP	ENST00000283228.2	37	CCDS8998.1																																																																																				0.468	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		307	348	307	348
KSR2	283455	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	117962802	117962802	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:117962802G>A	ENST00000339824.5	-	14	2801	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W	KSR2_ENST00000302438.5_Missense_Mutation_p.R389W|KSR2_ENST00000425217.1_Missense_Mutation_p.R663W|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	692	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCAATCAGCCGGATGGCCACC	0.597																																																0													55.0	58.0	57.0					12																	117962802		2104	4209	6313	SO:0001583	missense	283455			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2074C>T	12.37:g.117962802G>A	ENSP00000339952:p.Arg692Trp		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37		.	.	.	.	.	.	.	.	.	.	G	18.76	3.691779	0.68271	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	D;D;D	0.89875	-2.58;-2.58;-2.58	4.91	1.77	0.24775	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92018	0.7471	M	0.67700	2.07	0.52501	D	0.999954	D	0.89917	1.0	D	0.97110	1.0	D	0.90743	0.4651	10	0.87932	D	0	.	8.735	0.34523	0.076:0.0:0.5682:0.3558	.	692	Q6VAB6	KSR2_HUMAN	W	663;692;389;364	ENSP00000389715:R663W;ENSP00000339952:R692W;ENSP00000305466:R389W	ENSP00000305466:R389W	R	-	1	2	KSR2	116447185	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.312000	0.65792	0.643000	0.30638	-0.199000	0.12753	CGG		0.597	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		15	38	15	38
ISLR2	57611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	74426192	74426192	+	Missense_Mutation	SNP	C	C	T	rs555771000		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr15:74426192C>T	ENST00000361742.3	+	4	1866	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	ISLR2_ENST00000435464.1_Missense_Mutation_p.T366M|ISLR2_ENST00000453268.2_Missense_Mutation_p.T366M|ISLR2_ENST00000565540.1_Missense_Mutation_p.T366M|ISLR2_ENST00000419208.1_Missense_Mutation_p.T366M|ISLR2_ENST00000445793.1_Missense_Mutation_p.T366M|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.T366M	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	366	Ig-like.				positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GCCAACTCTACGTCAATACGC	0.672																																																0													16.0	18.0	17.0					15																	74426192		2196	4294	6490	SO:0001583	missense	57611				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.1097C>T	15.37:g.74426192C>T	ENSP00000355402:p.Thr366Met		A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	C	9.153	1.016675	0.19355	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000419208	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	4.77	2.82	0.32997	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.203562	0.41001	D	0.000976	T	0.26955	0.0660	L	0.53671	1.685	0.09310	N	1	D	0.76494	0.999	D	0.64877	0.93	T	0.03403	-1.1040	10	0.72032	D	0.01	.	9.7458	0.40446	0.0:0.5237:0.3989:0.0774	.	366	Q6UXK2	ISLR2_HUMAN	M	366	ENSP00000403244:T366M;ENSP00000355402:T366M;ENSP00000411443:T366M;ENSP00000411834:T366M;ENSP00000408872:T366M	ENSP00000355402:T366M	T	+	2	0	ISLR2	72213245	0.360000	0.24964	0.039000	0.18376	0.314000	0.28054	2.197000	0.42696	0.406000	0.25560	0.305000	0.20034	ACG		0.672	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		16	20	16	20
GNAO1	2775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	56377821	56377821	+	Intron	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr16:56377821G>A	ENST00000262493.6	+	6	1569				GNAO1_ENST00000262494.7_Missense_Mutation_p.V342I	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TGTGACGGACGTCATCATCGC	0.622																																																0													165.0	114.0	131.0					16																	56377821		2198	4300	6498	SO:0001627	intron_variant	2775				CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.723+7049G>A	16.37:g.56377821G>A			P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	ENST00000262493.6	37	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761600	0.49468	.	.	ENSG00000087258	ENST00000262494	D	0.87887	-2.31	4.58	4.58	0.56647	.	.	.	.	.	T	0.74076	0.3669	N	0.05259	-0.085	0.38401	D	0.94567	B	0.06786	0.001	B	0.09377	0.004	T	0.69774	-0.5054	9	0.11794	T	0.64	.	17.7684	0.88485	0.0:0.0:1.0:0.0	.	342	P09471-2	.	I	342	ENSP00000262494:V342I	ENSP00000262494:V342I	V	+	1	0	GNAO1	54935322	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.893000	0.87330	2.278000	0.76064	0.561000	0.74099	GTC		0.622	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		25	72	25	72
DPEP3	64180	hgsc.bcm.edu;broad.mit.edu	37	16	68014019	68014019	+	Missense_Mutation	SNP	G	G	A	rs376146876		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr16:68014019G>A	ENST00000268793.4	-	1	713	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	89					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GGGAAACTCCGCATCAGGGCC	0.652																																																0								G	TRP/ARG,TRP/ARG	0,4396		0,0,2198	46.0	45.0	45.0		340,340	0.6	0.3	16		45	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DPEP3	NM_001129758.1,NM_022357.3	101,101	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	114/513,114/514	68014019	1,12995	2198	4300	6498	SO:0001583	missense	64180			AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.340C>T	16.37:g.68014019G>A	ENSP00000268793:p.Arg114Trp		B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	37	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900102	0.52227	0.0	1.16E-4	ENSG00000141096	ENST00000268793	T	0.23950	1.88	3.96	0.561	0.17285	.	1.076460	0.07198	N	0.856865	T	0.52386	0.1731	M	0.87456	2.885	0.23735	N	0.996987	D	0.76494	0.999	P	0.61658	0.892	T	0.44003	-0.9356	10	0.87932	D	0	.	10.9643	0.47403	0.0:0.0:0.5345:0.4655	.	89	Q9H4B8	DPEP3_HUMAN	W	114	ENSP00000268793:R114W	ENSP00000268793:R114W	R	-	1	2	DPEP3	66571520	0.735000	0.28153	0.289000	0.24876	0.007000	0.05969	0.666000	0.25097	0.109000	0.17891	-1.367000	0.01198	CGG		0.652	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		7	94	7	94
KRT24	192666	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	38857428	38857428	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr17:38857428G>A	ENST00000264651.2	-	3	875	c.819C>T	c.(817-819)acC>acT	p.T273T		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	273	Coil 1B.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CTAGCTCCTCGGTGAAACTCT	0.498																																					GBM(61;380 1051 14702 23642 31441)											0													135.0	117.0	123.0					17																	38857428		2203	4300	6503	SO:0001819	synonymous_variant	192666				CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.819C>T	17.37:g.38857428G>A			Q9NXG7	Silent	SNP	ENST00000264651.2	37	CCDS11372.1																																																																																				0.498	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		39	77	39	77
KRTAP1-5	83895	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	39183089	39183089	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr17:39183089C>T	ENST00000361883.5	-	1	365	c.319G>A	c.(319-321)Ggc>Agc	p.G107S		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	107	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			CCACTGCTGCCCTCCTGGCCA	0.637																																																0													21.0	27.0	25.0					17																	39183089		2111	4245	6356	SO:0001583	missense	83895			AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.319G>A	17.37:g.39183089C>T	ENSP00000355302:p.Gly107Ser		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	C	2.897	-0.228351	0.06022	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.45668	0.89	4.88	1.68	0.24146	.	.	.	.	.	T	0.19765	0.0475	N	0.16307	0.4	0.09310	N	1	B	0.17268	0.021	B	0.20767	0.031	T	0.32134	-0.9918	9	0.02654	T	1	.	4.7647	0.13127	0.1894:0.6243:0.0:0.1863	.	107	Q9BYS1	KRA15_HUMAN	S	107;97	ENSP00000355302:G107S	ENSP00000355302:G107S	G	-	1	0	KRTAP1-5	36436615	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	-0.011000	0.12721	0.277000	0.22141	0.561000	0.74099	GGC		0.637	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			12	36	12	36
ANKRD30B	374860	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	14850277	14850277	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr18:14850277C>A	ENST00000358984.4	+	35	3283	c.3103C>A	c.(3103-3105)Ccc>Acc	p.P1035T		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1035										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAAAATTAGACCCGAAGAGCA	0.284																																																0													60.0	52.0	55.0					18																	14850277		692	1576	2268	SO:0001583	missense	374860			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3103C>A	18.37:g.14850277C>A	ENSP00000351875:p.Pro1035Thr		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.276368	0.00254	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.16196	2.36	1.48	0.229	0.15368	.	.	.	.	.	T	0.09423	0.0232	N	0.22421	0.69	0.58432	D	0.999997	B;B	0.25904	0.013;0.137	B;B	0.16289	0.005;0.015	T	0.14587	-1.0467	9	0.66056	D	0.02	.	5.6065	0.17383	0.7105:0.2894:0.0:0.0	.	1120;1035	Q9BXX2;F8WAG3	AN30B_HUMAN;.	T	1035;429;455	ENSP00000351875:P1035T	ENSP00000277669:P455T	P	+	1	0	ANKRD30B	14840277	0.929000	0.31497	0.032000	0.17829	0.027000	0.11550	1.633000	0.37113	0.056000	0.16144	0.173000	0.16961	CCC		0.284	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		7	24	7	24
BTBD2	55643	hgsc.bcm.edu;broad.mit.edu	37	19	1987539	1987539	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr19:1987539C>T	ENST00000255608.4	-	6	1157	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	AC005306.3_ENST00000587498.1_RNA|AC005306.3_ENST00000588480.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	381						cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCGACTCTCCACCTGCTGG	0.667																																																0													40.0	34.0	36.0					19																	1987539		2200	4299	6499	SO:0001583	missense	55643			AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"""BTB/POZ domain containing"""	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.1141G>A	19.37:g.1987539C>T	ENSP00000255608:p.Glu381Lys		O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Missense_Mutation	SNP	ENST00000255608.4	37	CCDS12078.1	.	.	.	.	.	.	.	.	.	.	c	29.2	4.985476	0.93044	.	.	ENSG00000133243	ENST00000255608	T	0.15372	2.43	4.15	4.15	0.48705	PHR (1);	0.101356	0.64402	D	0.000003	T	0.29158	0.0725	M	0.62723	1.935	0.80722	D	1	P	0.49185	0.92	P	0.51229	0.663	T	0.03608	-1.1020	10	0.40728	T	0.16	-24.3122	15.5867	0.76489	0.0:1.0:0.0:0.0	.	381	Q9BX70	BTBD2_HUMAN	K	381	ENSP00000255608:E381K	ENSP00000255608:E381K	E	-	1	0	BTBD2	1938539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.338000	0.79269	2.129000	0.65627	0.556000	0.70494	GAG		0.667	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			7	20	7	20
SLC5A5	6528	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	18001745	18001745	+	Missense_Mutation	SNP	G	G	A	rs570968775	byFrequency	TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr19:18001745G>A	ENST00000222248.3	+	14	2049	c.1702G>A	c.(1702-1704)Gca>Aca	p.A568T		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	568					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)	p.A568T(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GTGGGACCTCGCACGGCAGAC	0.592													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15903	0.0		0.0	False		,,,				2504	0.0				Melanoma(65;1008 1708 7910 46650)											1	Substitution - Missense(1)	large_intestine(1)											114.0	111.0	112.0					19																	18001745		2203	4300	6503	SO:0001583	missense	6528				CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1702G>A	19.37:g.18001745G>A	ENSP00000222248:p.Ala568Thr		O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	G	8.859	0.946508	0.18356	.	.	ENSG00000105641	ENST00000222248	D	0.85088	-1.94	4.71	-3.38	0.04883	.	99.577500	0.00166	N	0.000007	T	0.68430	0.3000	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.59611	-0.7422	10	0.10902	T	0.67	.	5.113	0.14819	0.5474:0.0:0.3142:0.1385	.	568	Q92911	SC5A5_HUMAN	T	568	ENSP00000222248:A568T	ENSP00000222248:A568T	A	+	1	0	SLC5A5	17862745	0.000000	0.05858	0.000000	0.03702	0.634000	0.38068	-0.063000	0.11655	-0.811000	0.04369	0.491000	0.48974	GCA		0.592	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			41	204	41	204
NAPSA	9476	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	50864253	50864253	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr19:50864253C>T	ENST00000253719.2	-	5	821	c.613G>A	c.(613-615)Gta>Ata	p.V205I	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	205					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TCCACCAGTACATCCATCGGG	0.527																																																0													75.0	70.0	72.0					19																	50864253		2203	4300	6503	SO:0001583	missense	9476			AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.613G>A	19.37:g.50864253C>T	ENSP00000253719:p.Val205Ile		Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	37	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758256	0.31137	.	.	ENSG00000131400	ENST00000253719	T	0.57107	0.42	3.88	-4.78	0.03209	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	2.044320	0.02555	N	0.096086	T	0.34919	0.0914	N	0.22421	0.69	0.09310	N	1	B	0.14438	0.01	B	0.15052	0.012	T	0.28459	-1.0043	10	0.66056	D	0.02	.	3.8498	0.08949	0.2644:0.3703:0.0:0.3652	.	205	O96009	NAPSA_HUMAN	I	205	ENSP00000253719:V205I	ENSP00000253719:V205I	V	-	1	0	NAPSA	55556065	0.000000	0.05858	0.001000	0.08648	0.694000	0.40290	0.168000	0.16622	-0.708000	0.05015	0.491000	0.48974	GTA		0.527	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		29	73	29	73
OPRD1	4985	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	29189572	29189572	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:29189572C>T	ENST00000234961.2	+	3	1138	c.896C>T	c.(895-897)gCg>gTg	p.A299V		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	299					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GTGGTGGCTGCGCTGCACCTG	0.642																																																0													27.0	24.0	25.0					1																	29189572		2202	4299	6501	SO:0001583	missense	4985			U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.896C>T	1.37:g.29189572C>T	ENSP00000234961:p.Ala299Val		B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	.	.	.	.	.	.	.	.	.	.	C	8.212	0.800455	0.16397	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.37058	1.22	4.06	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	0.404404	0.26217	N	0.025651	T	0.18215	0.0437	N	0.17723	0.515	0.41655	D	0.989151	B	0.17852	0.024	B	0.17722	0.019	T	0.08249	-1.0731	10	0.02654	T	1	.	9.5865	0.39519	0.0:0.6495:0.3505:0.0	.	299	P41143	OPRD_HUMAN	V	299;251	ENSP00000234961:A299V	ENSP00000234961:A299V	A	+	2	0	OPRD1	29062159	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.580000	0.60942	2.097000	0.63578	0.462000	0.41574	GCG		0.642	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		12	23	12	23
AZIN2	113451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	33585652	33585652	+	Silent	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:33585652C>T	ENST00000294517.6	+	12	1839	c.1252C>T	c.(1252-1254)Ctg>Ttg	p.L418L	ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Silent_p.L438L|ADC_ENST00000373441.1_Silent_p.L438L|ADC_ENST00000373443.3_Silent_p.L418L	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		418					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	TAGGGAAGCGCTGCGAAGGCA	0.637																																																0													80.0	62.0	68.0					1																	33585652		2203	4300	6503	SO:0001819	synonymous_variant	113451																														ENST00000294517.6:c.1252C>T	1.37:g.33585652C>T			B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Silent	SNP	ENST00000294517.6	37	CCDS375.1																																																																																				0.637	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			25	52	25	52
KIAA0754	643314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	39876700	39876700	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:39876700T>C	ENST00000530275.1	+	1	550	c.355T>C	c.(355-357)Tca>Cca	p.S119P	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	119										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCCAGATTCTCAAGTGCAAC	0.512											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													37.0	38.0	38.0					1																	39876700		1930	4138	6068	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.355T>C	1.37:g.39876700T>C	ENSP00000431179:p.Ser119Pro	889	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		.	.	.	.	.	.	.	.	.	.	T	10.27	1.303176	0.23736	.	.	ENSG00000255103	ENST00000530275	T	0.42131	0.98	4.93	2.63	0.31362	.	.	.	.	.	T	0.28764	0.0713	L	0.27053	0.805	0.22240	N	0.99927	B	0.24043	0.096	B	0.22152	0.038	T	0.24941	-1.0146	9	0.87932	D	0	.	6.8119	0.23809	0.0:0.3407:0.0:0.6593	.	119	O94854	K0754_HUMAN	P	119	ENSP00000431179:S119P	ENSP00000431179:S119P	S	+	1	0	RP4-562N20.1	39649287	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.684000	0.37649	0.732000	0.32470	0.533000	0.62120	TCA		0.512	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		19	32	19	32
AMIGO1	57463	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	110050353	110050353	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:110050353G>A	ENST00000369864.4	-	2	1531	c.1182C>T	c.(1180-1182)acC>acT	p.T394T	AMIGO1_ENST00000369862.1_Silent_p.T394T					adhesion molecule with Ig-like domain 1											autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		AGCGGCAAGGGGTGAGGTATA	0.547																																																0													93.0	86.0	88.0					1																	110050353		2203	4300	6503	SO:0001819	synonymous_variant	57463				CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"""Immunoglobulin superfamily / V-set domain containing"""	20824	protein-coding gene	gene with protein product	"""amphoterin-induced gene and open reading frame"""	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.1182C>T	1.37:g.110050353G>A				Silent	SNP	ENST00000369864.4	37	CCDS30795.1																																																																																				0.547	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032247.1	NM_020703		23	60	23	60
ANXA9	8416	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	150957082	150957082	+	Silent	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:150957082C>T	ENST00000368947.4	+	7	878	c.402C>T	c.(400-402)gaC>gaT	p.D134D		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	134					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGCTGTGGACGTGGCCATTG	0.542																																																0													59.0	56.0	57.0					1																	150957082		2203	4300	6503	SO:0001819	synonymous_variant	8416			AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"""Annexins"""	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.402C>T	1.37:g.150957082C>T			Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Silent	SNP	ENST00000368947.4	37	CCDS975.2																																																																																				0.542	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2	NM_003568		7	24	7	24
SSTR4	6754	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	23016235	23016235	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr20:23016235C>T	ENST00000255008.3	+	1	179	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	39					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGTggcggggcccggggacgc	0.736																																					Esophageal Squamous(15;850 1104 16640)											0													20.0	29.0	26.0					20																	23016235		2079	4219	6298	SO:0001583	missense	6754				CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.115C>T	20.37:g.23016235C>T	ENSP00000255008:p.Pro39Ser		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	0.681	-0.798153	0.02862	.	.	ENSG00000132671	ENST00000255008	T	0.67171	-0.25	3.31	-6.62	0.01813	.	.	.	.	.	T	0.25754	0.0627	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27157	-1.0082	9	0.07482	T	0.82	.	0.0477	0.00010	0.2661:0.2322:0.2181:0.2836	.	39	P31391	SSR4_HUMAN	S	39	ENSP00000255008:P39S	ENSP00000255008:P39S	P	+	1	0	SSTR4	22964235	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.275000	0.02817	-2.048000	0.00907	-1.443000	0.01068	CCC		0.736	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			28	64	28	64
LTN1	26046	hgsc.bcm.edu;broad.mit.edu	37	21	30338725	30338725	+	Missense_Mutation	SNP	C	C	T	rs369102162		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr21:30338725C>T	ENST00000361371.5	-	10	2167	c.2088G>A	c.(2086-2088)atG>atA	p.M696I	LTN1_ENST00000389194.2_Missense_Mutation_p.M742I|LTN1_ENST00000389195.2_Missense_Mutation_p.M742I			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	696					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TTTTTCTTTCCATATCATTGT	0.368																																																0								C	ILE/MET	1,4405	2.1+/-5.4	0,1,2202	89.0	91.0	90.0		2226	2.4	0.7	21		90	0,8600		0,0,4300	no	missense	LTN1	NM_015565.2	10	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	742/1813	30338725	1,13005	2203	4300	6503	SO:0001583	missense	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.2088G>A	21.37:g.30338725C>T	ENSP00000354977:p.Met696Ile		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	C	11.02	1.516616	0.27123	2.27E-4	0.0	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000389195	T;T;T	0.65364	2.32;2.33;-0.15	5.13	2.36	0.29203	.	1.252370	0.04844	N	0.441128	T	0.43523	0.1251	N	0.14661	0.345	0.20764	N	0.99985	B	0.02656	0.0	B	0.01281	0.0	T	0.31888	-0.9927	10	0.42905	T	0.14	.	3.4077	0.07347	0.2753:0.4069:0.0:0.3178	.	696	O94822	LTN1_HUMAN	I	742;696;742	ENSP00000373846:M742I;ENSP00000354977:M696I;ENSP00000373847:M742I	ENSP00000354977:M696I	M	-	3	0	LTN1	29260596	0.000000	0.05858	0.735000	0.30896	0.955000	0.61496	-0.477000	0.06583	0.866000	0.35629	0.650000	0.86243	ATG		0.368	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		7	126	7	126
SMC6	79677	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	17884529	17884529	+	Silent	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr2:17884529C>T	ENST00000448223.2	-	19	2306	c.2037G>A	c.(2035-2037)acG>acA	p.T679T	SMC6_ENST00000402989.1_Silent_p.T679T|SMC6_ENST00000351948.4_Silent_p.T679T|SMC6_ENST00000381272.4_Silent_p.T705T	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	679					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATATCTGGGCCGTCTTATTTT	0.313																																																0													81.0	85.0	84.0					2																	17884529		2203	4297	6500	SO:0001819	synonymous_variant	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.2037G>A	2.37:g.17884529C>T			A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Silent	SNP	ENST00000448223.2	37	CCDS1690.1																																																																																				0.313	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		12	39	12	39
ACVR2A	92	hgsc.bcm.edu;broad.mit.edu	37	2	148657327	148657327	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr2:148657327G>A	ENST00000241416.7	+	4	1024	c.388G>A	c.(388-390)Gtt>Att	p.V130I	ACVR2A_ENST00000404590.1_Missense_Mutation_p.V130I|ACVR2A_ENST00000535787.1_Missense_Mutation_p.V22I|AC009480.3_ENST00000402410.2_RNA	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	130					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTCAAATCCAGTTACACCTAA	0.398																																																0													286.0	284.0	285.0					2																	148657327		2203	4300	6503	SO:0001583	missense	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.388G>A	2.37:g.148657327G>A	ENSP00000241416:p.Val130Ile		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843735	0.32606	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.83914	-1.78;-1.69;-1.78	5.32	5.32	0.75619	.	0.103566	0.64402	D	0.000003	T	0.77398	0.4124	L	0.50333	1.59	0.42372	D	0.992458	B	0.16166	0.016	B	0.14578	0.011	T	0.70850	-0.4760	10	0.14656	T	0.56	.	14.2301	0.65885	0.0:0.0:0.8508:0.1492	.	130	P27037	AVR2A_HUMAN	I	130;22;130	ENSP00000241416:V130I;ENSP00000439988:V22I;ENSP00000384338:V130I	ENSP00000241416:V130I	V	+	1	0	ACVR2A	148373797	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.449000	0.66619	2.656000	0.90262	0.650000	0.86243	GTT		0.398	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		152	281	152	281
ZNF385B	151126	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	180634461	180634461	+	Missense_Mutation	SNP	G	G	A	rs146268620		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr2:180634461G>A	ENST00000410066.1	-	3	625	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	8	Required for induction of apoptosis.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TCAAAGCCCCGTAGAAAATTT	0.413													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18186	0.0		0.0	False		,,,				2504	0.0				Colon(155;204 2491 32774 51842)											0								G	TRP/ARG	0,4406		0,0,2203	58.0	62.0	61.0		22	2.5	1.0	2	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF385B	NM_152520.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	8/472	180634461	1,13005	2203	4300	6503	SO:0001583	missense	151126			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.22C>T	2.37:g.180634461G>A	ENSP00000386845:p.Arg8Trp		Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	CCDS33339.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.66	1.705707	0.30232	0.0	1.16E-4	ENSG00000144331	ENST00000410066;ENST00000451732;ENST00000438871	T	0.35605	1.3	5.38	2.46	0.29980	.	0.134456	0.33309	N	0.005058	T	0.28632	0.0709	L	0.27053	0.805	0.80722	D	1	D	0.65815	0.995	P	0.47044	0.535	T	0.05194	-1.0900	10	0.87932	D	0	-2.3829	8.8312	0.35085	0.0705:0.0:0.6653:0.2642	.	8	Q569K4	Z385B_HUMAN	W	8	ENSP00000386845:R8W	ENSP00000386845:R8W	R	-	1	2	ZNF385B	180342706	0.300000	0.24435	1.000000	0.80357	0.997000	0.91878	0.607000	0.24209	0.640000	0.30582	0.561000	0.74099	CGG		0.413	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		22	60	22	60
IQCA1	79781	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	237272426	237272426	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr2:237272426G>A	ENST00000409907.3	-	15	2140	c.1866C>T	c.(1864-1866)ttC>ttT	p.F622F	IQCA1_ENST00000309507.5_Silent_p.F619F|IQCA1_ENST00000431676.2_Silent_p.F581F	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	622							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TCCATACCTTGAAGACTGCAT	0.448																																																0													142.0	137.0	139.0					2																	237272426		1945	4138	6083	SO:0001819	synonymous_variant	79781			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1866C>T	2.37:g.237272426G>A			B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Silent	SNP	ENST00000409907.3	37	CCDS46549.1																																																																																				0.448	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		17	111	17	111
SSUH2	51066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	8661621	8661621	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr3:8661621C>T	ENST00000317371.4	-	19	2220	c.995G>A	c.(994-996)gGc>gAc	p.G332D	SSUH2_ENST00000544814.1_Missense_Mutation_p.G354D|SSUH2_ENST00000341795.3_Missense_Mutation_p.G332D|SSUH2_ENST00000415132.1_3'UTR			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	332						cytoplasm (GO:0005737)											GTGGTCAGTGCCATAGATGTA	0.507																																																0													174.0	150.0	158.0					3																	8661621		2203	4300	6503	SO:0001583	missense	51066			AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.995G>A	3.37:g.8661621C>T	ENSP00000324551:p.Gly332Asp		A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	ENST00000317371.4	37	CCDS2568.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458916	0.84317	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000544814	T;T;T	0.80909	-1.36;-1.36;-1.43	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.88782	0.6530	M	0.73430	2.235	0.51233	D	0.999914	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89987	0.4105	10	0.87932	D	0	-19.9497	13.9457	0.64082	0.0:1.0:0.0:0.0	.	354;332	F5H2S5;Q9Y2M2	.;CC032_HUMAN	D	332;332;354	ENSP00000339150:G332D;ENSP00000324551:G332D;ENSP00000439378:G354D	ENSP00000324551:G332D	G	-	2	0	C3orf32	8636621	0.994000	0.37717	1.000000	0.80357	0.907000	0.53573	3.469000	0.53093	2.335000	0.79485	0.467000	0.42956	GGC		0.507	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931		24	58	24	58
HMCES	56941	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	129023473	129023473	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr3:129023473G>T	ENST00000383463.4	+	7	959	c.870G>T	c.(868-870)tgG>tgT	p.W290C	HMCES_ENST00000417226.2_Missense_Mutation_p.W248C|HMCES_ENST00000502878.2_Missense_Mutation_p.W290C|HMCES_ENST00000389735.3_Missense_Mutation_p.W290C	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	290							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										TGTTGCAGTGGTTGGCCACAA	0.488																																																0													136.0	133.0	134.0					3																	129023473		2203	4300	6503	SO:0001583	missense	0			AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"""SOS response associated peptidase domain containing 1"""		"""chromosome 3 open reading frame 37"""	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.870G>T	3.37:g.129023473G>T	ENSP00000372955:p.Trp290Cys		A6NJR9|Q96G34|Q9NRP3	Missense_Mutation	SNP	ENST00000383463.4	37	CCDS33852.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927154	0.52759	.	.	ENSG00000183624	ENST00000509042;ENST00000383463;ENST00000417226;ENST00000502878;ENST00000389735	.	.	.	4.02	4.02	0.46733	.	0.072512	0.64402	D	0.000012	T	0.70666	0.3250	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.69142	0.962;0.873	T	0.73244	-0.4044	9	0.72032	D	0.01	-16.0688	8.3053	0.32038	0.1124:0.0:0.8876:0.0	.	248;290	E7EMP6;Q96FZ2	.;CC037_HUMAN	C	242;290;248;290;290	.	ENSP00000372955:W290C	W	+	3	0	C3orf37	130506163	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.046000	0.41260	2.187000	0.69744	0.591000	0.81541	TGG		0.488	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2	NM_020187		45	85	45	85
RAP2B	5912	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	152880516	152880516	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr3:152880516G>A	ENST00000323534.2	+	1	488	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	12					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GCTGGGCTCGGGCGGCGTGGG	0.667																																																0													45.0	44.0	44.0					3																	152880516		2203	4300	6503	SO:0001583	missense	5912				CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"""Ras-related protein RAP-2B"", ""small GTP binding protein"", ""Ras family small GTP binding protein RAP2B"""	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.34G>A	3.37:g.152880516G>A	ENSP00000319096:p.Gly12Ser		P17964|Q96EG5|Q9CXG0	Missense_Mutation	SNP	ENST00000323534.2	37	CCDS3170.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590791	0.86851	.	.	ENSG00000181467	ENST00000323534	T	0.76316	-1.01	5.14	3.3	0.37823	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	T	0.79381	0.4436	N	0.21545	0.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79729	-0.1681	10	0.72032	D	0.01	.	12.0719	0.53622	0.0:0.0:0.6864:0.3136	.	12	P61225	RAP2B_HUMAN	S	12	ENSP00000319096:G12S	ENSP00000319096:G12S	G	+	1	0	RAP2B	154363206	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.462000	0.73526	0.517000	0.28361	0.563000	0.77884	GGC		0.667	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1	NM_002886		28	30	28	30
PLEKHG4B	153478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	161988	161988	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr5:161988G>A	ENST00000283426.6	+	10	1560	c.1510G>A	c.(1510-1512)Gtg>Atg	p.V504M		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	504							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCTGAGCGCCGTGGTCAGCCA	0.617																																																0													86.0	76.0	80.0					5																	161988		2203	4300	6503	SO:0001583	missense	153478			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1510G>A	5.37:g.161988G>A	ENSP00000283426:p.Val504Met			Missense_Mutation	SNP	ENST00000283426.6	37	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	2.946	-0.217710	0.06101	.	.	ENSG00000153404	ENST00000283426	D	0.93247	-3.19	2.49	-4.98	0.03019	.	.	.	.	.	T	0.77123	0.4084	N	0.02011	-0.69	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.65837	-0.6071	9	0.30078	T	0.28	.	5.3603	0.16083	0.65:0.165:0.185:0.0	.	504	Q96PX9	PKH4B_HUMAN	M	504	ENSP00000283426:V504M	ENSP00000283426:V504M	V	+	1	0	PLEKHG4B	214988	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.320000	0.08028	-1.664000	0.01479	-0.460000	0.05396	GTG		0.617	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		28	55	28	55
CDH18	1016	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	19838956	19838956	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr5:19838956A>G	ENST00000507958.1	-	5	1130	c.140T>C	c.(139-141)gTc>gCc	p.V47A	CDH18_ENST00000274170.4_Missense_Mutation_p.V47A|CDH18_ENST00000511273.1_Missense_Mutation_p.V47A|CDH18_ENST00000506372.1_Missense_Mutation_p.V47A|CDH18_ENST00000502796.1_Missense_Mutation_p.V47A|CDH18_ENST00000382275.1_Missense_Mutation_p.V47A			Q13634	CAD18_HUMAN	cadherin 18, type 2	47					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACGATGATGGACTTCGGTTTC	0.433																																																0													218.0	180.0	193.0					5																	19838956		2203	4300	6503	SO:0001583	missense	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.140T>C	5.37:g.19838956A>G	ENSP00000425093:p.Val47Ala		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.628809	0.67015	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	L	0.41492	1.28	0.48288	D	0.999624	B;B	0.28512	0.214;0.017	B;B	0.25506	0.061;0.007	T	0.06058	-1.0848	9	.	.	.	.	15.2006	0.73132	1.0:0.0:0.0:0.0	.	47;47	B4DHG6;Q13634	.;CAD18_HUMAN	A	47	ENSP00000371710:V47A;ENSP00000425093:V47A;ENSP00000274170:V47A;ENSP00000424931:V47A;ENSP00000422138:V47A;ENSP00000425854:V47A	.	V	-	2	0	CDH18	19874713	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.918000	0.92759	2.263000	0.75096	0.533000	0.62120	GTC		0.433	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		13	32	13	32
NNT	23530	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	43613179	43613179	+	Silent	SNP	A	A	G			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr5:43613179A>G	ENST00000264663.5	+	3	542	c.321A>G	c.(319-321)agA>agG	p.R107R	NNT_ENST00000344920.4_Silent_p.R107R|NNT_ENST00000512996.2_5'UTR	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	107					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					ATCACTATAGAGTGGCAGGTG	0.478																																																0													105.0	108.0	107.0					5																	43613179		2203	4300	6503	SO:0001819	synonymous_variant	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.321A>G	5.37:g.43613179A>G			Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	CCDS3949.1																																																																																				0.478	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		72	103	72	103
TRIM39	56658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	30309546	30309546	+	Missense_Mutation	SNP	G	G	A	rs199883161		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:30309546G>A	ENST00000396547.1	+	8	1227	c.1067G>A	c.(1066-1068)cGt>cAt	p.R356H	TRIM39_ENST00000396551.3_Missense_Mutation_p.R326H|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.R238H|TRIM39_ENST00000376659.5_Missense_Mutation_p.R326H|TRIM39_ENST00000376656.4_Missense_Mutation_p.R356H|TRIM39_ENST00000540416.1_Missense_Mutation_p.R326H|TRIM39_ENST00000396548.1_Missense_Mutation_p.R326H			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	356	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						TCAGAGGATCGTAAGAGCGTC	0.567																																																0													91.0	61.0	72.0					6																	30309546		1511	2708	4219	SO:0001583	missense	56658			BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.1067G>A	6.37:g.30309546G>A	ENSP00000379796:p.Arg356His		Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	CCDS34377.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773365	0.69992	.	.	ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000248167	ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000412529;ENST00000396548;ENST00000376659;ENST00000396547;ENST00000513556	T;T;T;T;T;T;T	0.11930	3.57;2.73;3.57;3.57;3.57;2.73;3.57	5.78	5.78	0.91487	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.089238	0.48286	D	0.000192	T	0.31389	0.0795	M	0.87682	2.9	0.33064	D	0.534494	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.87578	0.909;0.998;0.988	T	0.31251	-0.9950	10	0.46703	T	0.11	.	12.4587	0.55718	0.0:0.0:0.8328:0.1672	.	240;356;326	F5H2V3;Q9HCM9;Q9HCM9-2	.;TRI39_HUMAN;.	H	326;356;356;326;326;240;326;326;356;238	ENSP00000379800:R326H;ENSP00000365844:R356H;ENSP00000439400:R326H;ENSP00000379797:R326H;ENSP00000365847:R326H;ENSP00000379796:R356H;ENSP00000424048:R238H	ENSP00000365844:R356H	R	+	2	0	TRIM39-RPP21;TRIM39	30417525	0.007000	0.16637	1.000000	0.80357	0.993000	0.82548	1.585000	0.36600	2.730000	0.93505	0.655000	0.94253	CGT		0.567	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		21	30	21	30
CUL9	23113	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	43171720	43171720	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:43171720C>G	ENST00000252050.4	+	20	4238	c.4154C>G	c.(4153-4155)tCt>tGt	p.S1385C	CUL9_ENST00000372647.2_Missense_Mutation_p.S1385C|CUL9_ENST00000354495.3_Missense_Mutation_p.S1275C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1385					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AACATCACCTCTCCCGGTAAC	0.567																																																0													57.0	60.0	59.0					6																	43171720		2203	4300	6503	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4154C>G	6.37:g.43171720C>G	ENSP00000252050:p.Ser1385Cys		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968133	0.34754	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.74947	-0.89;-0.89;-0.78	5.88	0.692	0.18050	.	1.173640	0.05880	N	0.626206	T	0.52484	0.1737	L	0.40543	1.245	0.09310	N	1	B;B;B	0.20368	0.044;0.003;0.003	B;B;B	0.22880	0.042;0.021;0.021	T	0.56697	-0.7936	10	0.66056	D	0.02	-8.7272	14.4505	0.67382	0.0:0.4187:0.5192:0.0622	.	1275;1385;1385	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	C	1385;1275;1385	ENSP00000252050:S1385C;ENSP00000346490:S1275C;ENSP00000361730:S1385C	ENSP00000252050:S1385C	S	+	2	0	CUL9	43279698	0.010000	0.17322	0.965000	0.40720	0.956000	0.61745	1.056000	0.30480	0.085000	0.17107	0.655000	0.94253	TCT		0.567	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		34	60	34	60
OGFRL1	79627	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	72011297	72011297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:72011297C>T	ENST00000370435.4	+	7	1035	c.901C>T	c.(901-903)Cag>Tag	p.Q301*	RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000585882.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	301						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						GCGGTTCGCCCAGAAACACTA	0.463																																																0													56.0	58.0	57.0					6																	72011297		2203	4300	6503	SO:0001587	stop_gained	79627				CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.901C>T	6.37:g.72011297C>T	ENSP00000359464:p.Gln301*		Q2TAC1|Q8NEQ4|Q9H7B5	Nonsense_Mutation	SNP	ENST00000370435.4	37	CCDS34482.1	.	.	.	.	.	.	.	.	.	.	C	34	5.411357	0.96072	.	.	ENSG00000119900	ENST00000370435	.	.	.	5.92	5.92	0.95590	.	0.117788	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-23.501	13.5041	0.61474	0.0:0.929:0.0:0.071	.	.	.	.	X	301	.	ENSP00000359464:Q301X	Q	+	1	0	OGFRL1	72068018	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	6.091000	0.71406	2.809000	0.96659	0.467000	0.42956	CAG		0.463	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041153.2	NM_024576		28	64	28	64
FRK	2444	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	116277768	116277768	+	Missense_Mutation	SNP	T	T	C	rs200172011		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:116277768T>C	ENST00000606080.1	-	5	1251	c.805A>G	c.(805-807)Atg>Gtg	p.M269V	FRK_ENST00000538210.1_Missense_Mutation_p.M127V	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	269	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	TTTGGATCCATTGAACCTGAA	0.428																																																0													111.0	118.0	115.0					6																	116277768		2203	4300	6503	SO:0001583	missense	2444			U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.805A>G	6.37:g.116277768T>C	ENSP00000476145:p.Met269Val		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	CCDS5103.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	21.2	4.106556	0.77096	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	D;D	0.82526	-1.62;-1.62	5.74	5.74	0.90152	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82421	0.5033	N	0.22421	0.69	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.86527	0.1819	10	0.87932	D	0	.	16.0351	0.80621	0.0:0.0:0.0:1.0	.	269	P42685	FRK_HUMAN	V	269;127	ENSP00000357615:M269V;ENSP00000443075:M127V	ENSP00000357615:M269V	M	-	1	0	FRK	116384461	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.186000	0.69663	0.533000	0.62120	ATG		0.428	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		42	52	42	52
NPY	4852	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	24329163	24329163	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:24329163G>A	ENST00000407573.1	+	4	524	c.234G>A	c.(232-234)ttG>ttA	p.L78L	NPY_ENST00000242152.2_Silent_p.L78L|NPY_ENST00000405982.1_Silent_p.L78L			P01303	NPY_HUMAN	neuropeptide Y	78					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CAGACCTCTTGATGAGAGAAA	0.438																																																0													127.0	118.0	121.0					7																	24329163		2203	4300	6503	SO:0001819	synonymous_variant	4852			K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.234G>A	7.37:g.24329163G>A				Silent	SNP	ENST00000407573.1	37	CCDS5387.1																																																																																				0.438	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		301	359	301	359
NPY	4852	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	24329168	24329168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:24329168G>A	ENST00000407573.1	+	4	529	c.239G>A	c.(238-240)aGa>aAa	p.R80K	NPY_ENST00000242152.2_Missense_Mutation_p.R80K|NPY_ENST00000405982.1_Missense_Mutation_p.R80K			P01303	NPY_HUMAN	neuropeptide Y	80					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CTCTTGATGAGAGAAAGCACA	0.443																																																0													122.0	114.0	117.0					7																	24329168		2203	4300	6503	SO:0001583	missense	4852			K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.239G>A	7.37:g.24329168G>A	ENSP00000384364:p.Arg80Lys			Missense_Mutation	SNP	ENST00000407573.1	37	CCDS5387.1	.	.	.	.	.	.	.	.	.	.	G	7.638	0.680238	0.14907	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.10960	2.82;2.82;2.82	5.78	3.93	0.45458	.	0.190994	0.56097	N	0.000028	T	0.04907	0.0132	.	.	.	0.32866	D	0.508554	B	0.09022	0.002	B	0.09377	0.004	T	0.18999	-1.0319	9	0.02654	T	1	-4.3107	13.2261	0.59914	0.1327:0.0:0.8673:0.0	.	80	P01303	NPY_HUMAN	K	80	ENSP00000242152:R80K;ENSP00000384364:R80K;ENSP00000385282:R80K	ENSP00000242152:R80K	R	+	2	0	NPY	24295693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.009000	0.49552	1.425000	0.47237	0.650000	0.86243	AGA		0.443	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		298	358	298	358
EGFR	1956	hgsc.bcm.edu;broad.mit.edu	37	7	55223582	55223582	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:55223582G>A	ENST00000275493.2	+	8	1126	c.949G>A	c.(949-951)Gag>Aag	p.E317K	EGFR_ENST00000344576.2_Missense_Mutation_p.E317K|EGFR_ENST00000442591.1_Missense_Mutation_p.E317K|EGFR_ENST00000420316.2_Missense_Mutation_p.E317K|EGFR_ENST00000454757.2_Missense_Mutation_p.E264K|EGFR_ENST00000455089.1_Missense_Mutation_p.E272K|EGFR_ENST00000342916.3_Missense_Mutation_p.E317K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	317					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)	CGACAGCTATGAGATGGAGGA	0.597		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	0													53.0	49.0	50.0					7																	55223582		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		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.949G>A	7.37:g.55223582G>A	ENSP00000275493:p.Glu317Lys		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691959	0.88735	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.64	5.64	0.86602	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.92831	0.7720	M	0.80746	2.51	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.999;1.0;0.999;0.993	P;D;D;D;P	0.91635	0.885;0.972;0.999;0.953;0.606	D	0.93358	0.6724	10	0.87932	D	0	.	18.2675	0.90056	0.0:0.0:1.0:0.0	.	272;317;317;317;317	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	K	272;317;187;317;317;317;317;264;111	ENSP00000415559:E272K;ENSP00000342376:E317K;ENSP00000345973:E317K;ENSP00000413843:E317K;ENSP00000275493:E317K;ENSP00000410031:E317K;ENSP00000395243:E264K	ENSP00000275493:E317K	E	+	1	0	EGFR	55191076	1.000000	0.71417	0.979000	0.43373	0.150000	0.21749	9.838000	0.99474	2.655000	0.90218	0.655000	0.94253	GAG		0.597	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		81	1276	81	1276
EGFR	1956	hgsc.bcm.edu;broad.mit.edu	37	7	55223594	55223594	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:55223594G>T	ENST00000275493.2	+	8	1138	c.961G>T	c.(961-963)Gac>Tac	p.D321Y	EGFR_ENST00000344576.2_Missense_Mutation_p.D321Y|EGFR_ENST00000442591.1_Missense_Mutation_p.D321Y|EGFR_ENST00000420316.2_Missense_Mutation_p.D321Y|EGFR_ENST00000454757.2_Missense_Mutation_p.D268Y|EGFR_ENST00000455089.1_Missense_Mutation_p.D276Y|EGFR_ENST00000342916.3_Missense_Mutation_p.D321Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	321					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)	GATGGAGGAAGACGGCGTCCG	0.602		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	0													51.0	47.0	49.0					7																	55223594		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		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.961G>T	7.37:g.55223594G>T	ENSP00000275493:p.Asp321Tyr		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585499	0.46110	.	.	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	5.64	0.86602	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.142969	0.64402	D	0.000006	D	0.89291	0.6673	L	0.61218	1.895	0.41265	D	0.986804	D;D;D;D;P	0.76494	0.962;0.979;0.999;0.996;0.923	P;P;D;D;P	0.67231	0.746;0.893;0.95;0.915;0.568	D	0.89634	0.3857	10	0.87932	D	0	.	8.7977	0.34890	0.1587:0.0:0.8413:0.0	.	276;321;321;321;321	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	Y	276;321;191;321;321;321;321;268;115	ENSP00000415559:D276Y;ENSP00000342376:D321Y;ENSP00000345973:D321Y;ENSP00000413843:D321Y;ENSP00000275493:D321Y;ENSP00000410031:D321Y;ENSP00000395243:D268Y	ENSP00000275493:D321Y	D	+	1	0	EGFR	55191088	1.000000	0.71417	0.512000	0.27736	0.069000	0.16628	4.247000	0.58750	2.655000	0.90218	0.655000	0.94253	GAC		0.602	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		78	1040	78	1040
FZD9	8326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	72849818	72849818	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:72849818G>A	ENST00000344575.3	+	1	1710	c.1481G>A	c.(1480-1482)cGg>cAg	p.R494Q		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	494					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCCGGAGGCCGGAGGGACTGC	0.647																																					Pancreas(144;909 1878 36867 38226 39554)											0													30.0	34.0	33.0					7																	72849818		2202	4299	6501	SO:0001583	missense	8326			U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1481G>A	7.37:g.72849818G>A	ENSP00000345785:p.Arg494Gln			Missense_Mutation	SNP	ENST00000344575.3	37	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436429	0.25813	.	.	ENSG00000188763	ENST00000344575	D	0.81739	-1.53	4.88	4.88	0.63580	GPCR, family 2-like (1);	0.279999	0.18322	U	0.144780	T	0.64327	0.2588	N	0.17379	0.485	0.37910	D	0.931337	P	0.46987	0.888	B	0.40009	0.316	T	0.65278	-0.6207	10	0.09590	T	0.72	.	12.8503	0.57855	0.0:0.1639:0.8361:0.0	.	494	O00144	FZD9_HUMAN	Q	494	ENSP00000345785:R494Q	ENSP00000345785:R494Q	R	+	2	0	FZD9	72487754	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.765000	0.47621	2.261000	0.74972	0.563000	0.77884	CGG		0.647	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			25	186	25	186
PTN	5764	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	136938315	136938315	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:136938315C>T	ENST00000348225.2	-	3	612	c.185G>A	c.(184-186)tGt>tAt	p.C62Y	PTN_ENST00000393083.2_Missense_Mutation_p.C62Y	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	62					bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						GCCCAGCCCACAGTCTCCACT	0.498																																																0													95.0	81.0	86.0					7																	136938315		2203	4300	6503	SO:0001583	missense	5764			M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"""Endogenous ligands"""	9630	protein-coding gene	gene with protein product	"""heparin binding growth factor 8"""	162095	"""neurite growth-promoting factor 1"""	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.185G>A	7.37:g.136938315C>T	ENSP00000341170:p.Cys62Tyr		Q5U0B0|Q6ICQ5|Q9UCC6	Missense_Mutation	SNP	ENST00000348225.2	37	CCDS5844.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672320	0.88348	.	.	ENSG00000105894	ENST00000348225;ENST00000393083	.	.	.	5.65	5.65	0.86999	Midkine heparin-binding growth factor, N-terminal (3);Midkine heparin-binding growth factor, conserved site (1);Midkine heparin-binding growth factor, disulphide-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.79358	0.4432	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.80402	-0.1397	9	0.87932	D	0	-8.7821	19.733	0.96192	0.0:1.0:0.0:0.0	.	62;62	C9JR52;P21246	.;PTN_HUMAN	Y	62	.	ENSP00000341170:C62Y	C	-	2	0	PTN	136588855	1.000000	0.71417	0.996000	0.52242	0.950000	0.60333	7.613000	0.82986	2.665000	0.90641	0.585000	0.79938	TGT		0.498	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1	NM_002825		26	52	26	52
ASIC3	9311	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	150749681	150749681	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:150749681C>T	ENST00000349064.5	+	11	1736	c.1538C>T	c.(1537-1539)gCc>gTc	p.A513V	ASIC3_ENST00000357922.4_Silent_p.C493C|ASIC3_ENST00000297512.8_Missense_Mutation_p.P520S	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	513					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										CCTCCCTGTGCCGTCACCAAG	0.632																																																0													182.0	130.0	148.0					7																	150749681		2203	4300	6503	SO:0001583	missense	9311			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.1538C>T	7.37:g.150749681C>T	ENSP00000344838:p.Ala513Val		B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	CCDS5916.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.808|6.808	0.518163|0.518163	0.13005|0.13005	.|.	.|.	ENSG00000213199|ENSG00000213199	ENST00000349064|ENST00000297512	T|T	0.67345|0.63913	-0.26|-0.07	4.6|4.6	4.6|4.6	0.57074|0.57074	.|.	.|.	.|.	.|.	.|.	T|T	0.41673|0.41673	0.1169|0.1169	.|.	.|.	.|.	0.23727|0.23727	N|N	0.997001|0.997001	B|B	0.23377|0.30281	0.084|0.275	B|B	0.24155|0.25405	0.051|0.06	T|T	0.10154|0.10154	-1.0642|-1.0642	8|8	0.41790|0.11485	T|T	0.15|0.65	-1.0939|-1.0939	13.0963|13.0963	0.59195|0.59195	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	513|520	Q9UHC3|Q9UHC3-3	ACCN3_HUMAN|.	V|S	513|520	ENSP00000344838:A513V|ENSP00000297512:P520S	ENSP00000344838:A513V|ENSP00000297512:P520S	A|P	+|+	2|1	0|0	ACCN3|ACCN3	150380614|150380614	0.004000|0.004000	0.15560|0.15560	0.766000|0.766000	0.31476|0.31476	0.283000|0.283000	0.27025|0.27025	1.161000|1.161000	0.31773|0.31773	2.546000|2.546000	0.85860|0.85860	0.462000|0.462000	0.41574|0.41574	GCC|CCG		0.632	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		35	135	35	135
KCNT1	57582	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	138669222	138669222	+	Silent	SNP	C	C	T	rs530678159		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr9:138669222C>T	ENST00000263604.3	+	21	2331	c.2331C>T	c.(2329-2331)taC>taT	p.Y777Y	KCNT1_ENST00000491806.2_Silent_p.Y763Y|KCNT1_ENST00000487664.1_Silent_p.Y751Y|KCNT1_ENST00000488444.2_Silent_p.Y777Y|KCNT1_ENST00000298480.5_Silent_p.Y796Y|KCNT1_ENST00000371757.2_Silent_p.Y796Y|KCNT1_ENST00000486577.2_Silent_p.Y755Y|KCNT1_ENST00000490355.2_Silent_p.Y775Y			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	777			Y -> H (in ENFL5). {ECO:0000269|PubMed:23086396}.		potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCAAGGCCTACGGGTTCAAGA	0.602																																																0													115.0	102.0	107.0					9																	138669222		2203	4300	6503	SO:0001819	synonymous_variant	57582			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2331C>T	9.37:g.138669222C>T			B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37																																																																																					0.602	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		27	137	27	137
RNF128	79589	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	105937389	105937389	+	Missense_Mutation	SNP	G	G	A	rs146627932		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:105937389G>A	ENST00000324342.3	+	1	322	c.157G>A	c.(157-159)Gtt>Att	p.V53I		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	70					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TGAATGTGGCGTTTATGGATT	0.398																																																0								G	ILE/VAL	1,3834		0,1,1631,571	174.0	147.0	156.0		157	5.0	1.0	X	dbSNP_134	156	1,6727		0,1,2427,1872	yes	missense	RNF128	NM_024539.3	29	0,2,4058,2443	AA,AG,GG,G		0.0149,0.0261,0.0189		53/403	105937389	2,10561	2203	4300	6503	SO:0001583	missense	79589			AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000324342.3:c.157G>A	X.37:g.105937389G>A	ENSP00000316127:p.Val53Ile		A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000324342.3	37	CCDS14520.1	.	.	.	.	.	.	.	.	.	.	G	8.999	0.979554	0.18812	2.61E-4	1.49E-4	ENSG00000133135	ENST00000418562;ENST00000324342	T;T	0.30981	1.51;2.91	6.02	4.99	0.66335	.	.	.	.	.	T	0.13200	0.0320	N	0.14661	0.345	0.80722	D	1	P	0.37370	0.592	B	0.27262	0.078	T	0.09618	-1.0666	9	0.17369	T	0.5	.	7.8295	0.29334	0.0971:0.2696:0.6333:0.0	.	53	Q8TEB7-2	.	I	26;53	ENSP00000412610:V26I;ENSP00000316127:V53I	ENSP00000316127:V53I	V	+	1	0	RNF128	105824045	0.956000	0.32656	1.000000	0.80357	0.978000	0.69477	1.486000	0.35530	2.550000	0.86006	0.594000	0.82650	GTT		0.398	RNF128-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057805.1	NM_024539		13	137	13	137
VSIG1	340547	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	107316040	107316040	+	Silent	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:107316040C>T	ENST00000217957.5	+	4	663	c.546C>T	c.(544-546)atC>atT	p.I182I	VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000415430.3_Silent_p.I218I	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	182	Ig-like C2-type 2.					integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GAAGAGACATCGTGCCAGTGA	0.507																																																0													171.0	133.0	146.0					X																	107316040		2203	4300	6503	SO:0001819	synonymous_variant	340547			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.546C>T	X.37:g.107316040C>T			C9J4P2|Q6MZS4	Silent	SNP	ENST00000217957.5	37	CCDS14535.1																																																																																				0.507	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		38	79	38	79
RGAG1	57529	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	109698484	109698484	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:109698484G>T	ENST00000465301.2	+	4	4348	c.4102G>T	c.(4102-4104)Gaa>Taa	p.E1368*	RGAG1_ENST00000540313.1_Nonsense_Mutation_p.E1368*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1368										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGACCCCCAAGAAGGTCTTCA	0.468																																																0													202.0	176.0	185.0					X																	109698484		2203	4300	6503	SO:0001587	stop_gained	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.4102G>T	X.37:g.109698484G>T	ENSP00000419786:p.Glu1368*		Q9P2M8	Nonsense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	39	7.817456	0.98507	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	.	.	.	4.54	2.77	0.32553	.	0.000000	0.41938	D	0.000794	.	.	.	.	.	.	0.44736	D	0.997735	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.7604	5.901	0.18965	0.237:0.0:0.763:0.0	.	.	.	.	X	1368;1368;929	.	.	E	+	1	0	RGAG1	109585140	0.977000	0.34250	0.160000	0.22671	0.769000	0.43574	1.601000	0.36773	0.635000	0.30488	0.600000	0.82982	GAA		0.468	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		24	188	24	188
SH2D1A	4068	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	123480556	123480556	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:123480556G>T	ENST00000371139.4	+	1	363	c.64G>T	c.(64-66)Gcc>Tcc	p.A22S	STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000491950.1_3'UTR|SH2D1A_ENST00000477673.2_Missense_Mutation_p.A22S|SH2D1A_ENST00000360027.4_Missense_Mutation_p.A22S	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	22	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|humoral immune response (GO:0006959)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GCTCCTGCTTGCCACTGGGCT	0.592																																																0			GRCh37	CM056699	SH2D1A	M							137.0	105.0	116.0					X																	123480556		2203	4300	6503	SO:0001583	missense	4068			AL023657	CCDS14608.1, CCDS48162.1	Xq25	2014-09-17	2010-04-21		ENSG00000183918	ENSG00000183918		"""SH2 domain containing"""	10820	protein-coding gene	gene with protein product	"""Duncan's disease"""	300490	"""lymphoproliferative syndrome"", ""SH2 domain protein 1A"""	IMD5, LYP		9771704, 9774102	Standard	NM_001114937		Approved	XLP, MTCP1, DSHP, XLPD, EBVS, SAP	uc004euf.4	O60880	OTTHUMG00000022344	ENST00000371139.4:c.64G>T	X.37:g.123480556G>T	ENSP00000360181:p.Ala22Ser		A8MSW0|O95383|O95384|O95385|O95386|Q6FGS6|Q9UNR0	Missense_Mutation	SNP	ENST00000371139.4	37	CCDS14608.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.275153	0.23307	.	.	ENSG00000183918	ENST00000371139;ENST00000360027;ENST00000394475	D;D	0.88046	-2.33;-2.33	5.51	4.65	0.58169	SH2 motif (4);	0.401457	0.27778	N	0.017885	T	0.73140	0.3549	N	0.13043	0.29	0.30897	N	0.72971	B;B	0.18610	0.012;0.029	B;B	0.17979	0.012;0.02	T	0.61783	-0.6992	10	0.06625	T	0.88	-12.883	10.8975	0.47031	0.0932:0.0:0.9068:0.0	.	22;22	O60880-4;O60880	.;SH21A_HUMAN	S	22	ENSP00000360181:A22S;ENSP00000353126:A22S	ENSP00000353126:A22S	A	+	1	0	SH2D1A	123308237	0.366000	0.25014	0.114000	0.21550	0.944000	0.59088	1.847000	0.39299	1.083000	0.41159	0.513000	0.50165	GCC		0.592	SH2D1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058174.1	NM_002351		34	76	34	76
ASB17	127247	broad.mit.edu;ucsc.edu	37	1	76397738	76397738	+	Missense_Mutation	SNP	C	C	T	rs148576874		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:76397738C>T	ENST00000284142.6	-	1	378	c.239G>A	c.(238-240)cGt>cAt	p.R80H		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	80					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TACTTCAAAACGGTATCCTGA	0.373																																																0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	124.0	115.0	118.0		239	2.0	0.9	1	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	missense	ASB17	NM_080868.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	80/296	76397738	2,13004	2203	4300	6503	SO:0001583	missense	127247			AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.239G>A	1.37:g.76397738C>T	ENSP00000284142:p.Arg80His		B1APB8|Q8N0X5	Missense_Mutation	SNP	ENST00000284142.6	37	CCDS671.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185544	0.38609	2.27E-4	1.16E-4	ENSG00000154007	ENST00000284142	T	0.44083	0.93	6.08	1.99	0.26369	.	0.334157	0.26096	N	0.026370	T	0.08492	0.0211	N	0.14661	0.345	0.29556	N	0.851016	B	0.11235	0.004	B	0.04013	0.001	T	0.23048	-1.0199	10	0.45353	T	0.12	.	5.2181	0.15354	0.0:0.5974:0.1461:0.2565	.	80	Q8WXJ9	ASB17_HUMAN	H	80	ENSP00000284142:R80H	ENSP00000284142:R80H	R	-	2	0	ASB17	76170326	0.998000	0.40836	0.940000	0.37924	0.341000	0.28922	0.428000	0.21395	0.112000	0.17975	-0.345000	0.07892	CGT		0.373	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		17	38	17	38
SUV39H1	6839	broad.mit.edu;ucsc.edu	37	X	48559033	48559033	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:48559033G>C	ENST00000376687.3	+	3	907	c.717G>C	c.(715-717)aaG>aaC	p.K239N	SUV39H1_ENST00000453214.2_Missense_Mutation_p.R87T|SUV39H1_ENST00000337852.6_Missense_Mutation_p.K250N|AF196970.3_ENST00000416061.1_RNA	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	239	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TGGTACAGAAGGGTATCCGAT	0.607																																																0													66.0	52.0	57.0					X																	48559033		2203	4300	6503	SO:0001583	missense	6839			AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"""Chromatin-modifying enzymes / K-methyltransferases"""	11479	protein-coding gene	gene with protein product		300254	"""suppressor of variegation 3-9 (Drosophila) homolog 1"""	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.717G>C	X.37:g.48559033G>C	ENSP00000365877:p.Lys239Asn		B2R6E8|B4DST0|Q53G60|Q6FHK6	Missense_Mutation	SNP	ENST00000376687.3	37	CCDS14304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.957|3.957	-0.011157|-0.011157	0.07727|0.07727	.|.	.|.	ENSG00000101945|ENSG00000101945	ENST00000337852;ENST00000376687;ENST00000422496|ENST00000448548;ENST00000453214	D;D|.	0.89810|.	-2.57;-2.57|.	5.06|5.06	1.23|1.23	0.21249|0.21249	Pre-SET domain (1);|.	0.115583|.	0.64402|.	D|.	0.000018|.	T|T	0.28764|0.28764	0.0713|0.0713	L|L	0.38175|0.38175	1.15|1.15	0.27299|0.27299	N|N	0.95763|0.95763	B;B|.	0.09022|.	0.002;0.002|.	B;B|.	0.10450|.	0.005;0.005|.	T|T	0.31138|0.31138	-0.9954|-0.9954	10|6	0.26408|0.02654	T|T	0.33|1	.|.	10.7402|10.7402	0.46149|0.46149	0.3109:0.0:0.6891:0.0|0.3109:0.0:0.6891:0.0	.|.	250;239|.	B4DST0;O43463|.	.;SUV91_HUMAN|.	N|T	250;239;97|236;87	ENSP00000337976:K250N;ENSP00000365877:K239N|.	ENSP00000337976:K250N|ENSP00000410043:R236T	K|R	+|+	3|2	2|0	SUV39H1|SUV39H1	48443977|48443977	0.991000|0.991000	0.36638|0.36638	0.988000|0.988000	0.46212|0.46212	0.151000|0.151000	0.21798|0.21798	0.252000|0.252000	0.18278|0.18278	-0.477000|-0.477000	0.06832|0.06832	-1.978000|-1.978000	0.00458|0.00458	AAG|AGG		0.607	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1	NM_003173		34	54	34	54
CACNA1E	777	broad.mit.edu;ucsc.edu	37	1	181745306	181745306	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:181745306G>A	ENST00000367573.2	+	38	5209	c.5209G>A	c.(5209-5211)Ggg>Agg	p.G1737R	CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1737R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1718R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1669R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1688R|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1344R|CACNA1E_ENST00000526775.1_Missense_Mutation_p.G1718R	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1737					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTCCATCCTGGGGCCTCACCA	0.602																																																0													154.0	156.0	156.0					1																	181745306		1992	4190	6182	SO:0001583	missense	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5209G>A	1.37:g.181745306G>A	ENSP00000356545:p.Gly1737Arg		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	36	5.772215	0.96922	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96774	-4.02;-4.02;-4.12;-4.02;-4.1;-4.11;-4.11	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	M	0.94021	3.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99305	1.0902	10	0.87932	D	0	.	19.7135	0.96105	0.0:0.0:1.0:0.0	.	1718;1737;1737	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	R	1737;1718;1688;1669;1344;1718;1737	ENSP00000356542:G1737R;ENSP00000434814:G1718R;ENSP00000350183:G1688R;ENSP00000351101:G1669R;ENSP00000356539:G1344R;ENSP00000353222:G1718R;ENSP00000356545:G1737R	ENSP00000350183:G1688R	G	+	1	0	CACNA1E	180011929	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.731000	0.98807	2.769000	0.95229	0.655000	0.94253	GGG		0.602	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		80	127	80	127
CYP4V2	285440	broad.mit.edu;ucsc.edu	37	4	187118127	187118127	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr4:187118127G>T	ENST00000378802.4	+	4	751	c.447G>T	c.(445-447)atG>atT	p.M149I		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	149					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GGAGAAAGATGTTAACACCCA	0.323																																																0													76.0	81.0	79.0					4																	187118127		2203	4298	6501	SO:0001583	missense	285440			AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"""Cytochrome P450s"""	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.447G>T	4.37:g.187118127G>T	ENSP00000368079:p.Met149Ile		B7U6W2|Q6ZTM4	Missense_Mutation	SNP	ENST00000378802.4	37	CCDS34119.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630773	0.46944	.	.	ENSG00000145476	ENST00000378802;ENST00000274118	T	0.67523	-0.27	5.42	5.42	0.78866	.	0.071449	0.85682	D	0.000000	T	0.56247	0.1972	N	0.21324	0.655	0.80722	D	1	B	0.32526	0.374	B	0.37091	0.241	T	0.51252	-0.8729	10	0.10902	T	0.67	.	19.179	0.93615	0.0:0.0:1.0:0.0	.	149	Q6ZWL3	CP4V2_HUMAN	I	149;127	ENSP00000368079:M149I	ENSP00000274118:M127I	M	+	3	0	CYP4V2	187355121	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	6.253000	0.72453	2.698000	0.92095	0.655000	0.94253	ATG		0.323	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612		5	46	5	46
DSG1	1828	broad.mit.edu;ucsc.edu	37	18	28923927	28923927	+	Silent	SNP	C	C	T	rs548157114|rs398122400		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr18:28923927C>T	ENST00000257192.4	+	13	2072	c.1860C>T	c.(1858-1860)aaC>aaT	p.N620N	RNU6-167P_ENST00000384292.1_RNA|DSG1_ENST00000462981.2_5'UTR|RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	620					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CACCTGATAACGCAAATATAA	0.323													C|||	1	0.000199681	0.0	0.0	5008	,	,		15993	0.001		0.0	False		,,,				2504	0.0															0													122.0	112.0	115.0					18																	28923927		2203	4297	6500	SO:0001819	synonymous_variant	1828			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1860C>T	18.37:g.28923927C>T			B7Z845	Silent	SNP	ENST00000257192.4	37	CCDS11896.1																																																																																				0.323	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		7	43	7	43
SHROOM4	57477	broad.mit.edu;ucsc.edu	37	X	50378311	50378311	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:50378311C>A	ENST00000289292.7	-	4	1045	c.762G>T	c.(760-762)atG>atT	p.M254I	SHROOM4_ENST00000376020.2_Missense_Mutation_p.M254I|SHROOM4_ENST00000460112.3_Missense_Mutation_p.M138I			Q9ULL8	SHRM4_HUMAN	shroom family member 4	254					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GACGGGATGACATCTGAGAGC	0.652																																																0													16.0	13.0	14.0					X																	50378311		2200	4295	6495	SO:0001583	missense	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.762G>T	X.37:g.50378311C>A	ENSP00000289292:p.Met254Ile		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	C	3.636	-0.074464	0.07184	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.13657	2.98;2.98;2.57	5.77	1.32	0.21799	.	0.608574	0.14748	N	0.300755	T	0.07458	0.0188	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33111	-0.9881	10	0.33141	T	0.24	.	3.4972	0.07659	0.2599:0.4345:0.0:0.3056	.	254	Q9ULL8	SHRM4_HUMAN	I	254;254;138	ENSP00000289292:M254I;ENSP00000365188:M254I;ENSP00000421450:M138I	ENSP00000289292:M254I	M	-	3	0	SHROOM4	50395051	0.012000	0.17670	0.004000	0.12327	0.885000	0.51271	-0.251000	0.08818	0.277000	0.22141	0.600000	0.82982	ATG		0.652	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		6	13	6	13
AZGP1P1	646282	broad.mit.edu;ucsc.edu	37	7	99580896	99580896	+	RNA	SNP	A	A	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:99580896A>T	ENST00000425474.1	+	0	217					NR_036679.1				alpha-2-glycoprotein 1, zinc-binding pseudogene 1																		AGGAAGGCTGAGCCCCTGGGA	0.572																																																0																																												646282			AW995302		7q22.1	2010-04-16	2006-11-07		ENSG00000214313	ENSG00000214313			911	pseudogene	pseudogene			"""alpha-2-glycoprotein 1, zinc pseudogene 1"""			8241150, 8307568	Standard	NR_036679		Approved		uc003usi.2		OTTHUMG00000156513		7.37:g.99580896A>T				RNA	SNP	ENST00000425474.1	37																																																																																					0.572	AZGP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344467.1			7	11	7	11
ZNF330	27309	broad.mit.edu;hgsc.bcm.edu	37	4	142154882	142154883	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr4:142154882_142154883delAT	ENST00000262990.4	+	10	930_931	c.702_703delAT	c.(700-705)aaatttfs	p.KF234fs	ZNF330_ENST00000421169.2_Frame_Shift_Del_p.KF174fs	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	234						chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					GCTCCCTGAAATTTGGCAGGCA	0.416																																																0																																										SO:0001589	frameshift_variant	27309			AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"""Zinc fingers, C2H2-type"""	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.702_703delAT	4.37:g.142154882_142154883delAT	ENSP00000262990:p.Lys234fs		B2RDA3	Frame_Shift_Del	DEL	ENST00000262990.4	37	CCDS3754.1																																																																																				0.416	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257271.2	NM_014487		23	34	23	34
HEPH	9843	broad.mit.edu;hgsc.bcm.edu	37	X	65414952	65414952	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:65414952delG	ENST00000343002.2	+	8	2046	c.1382delG	c.(1381-1383)cggfs	p.R461fs	HEPH_ENST00000374727.3_Frame_Shift_Del_p.R464fs|HEPH_ENST00000441993.2_Frame_Shift_Del_p.R464fs|HEPH_ENST00000419594.1_Frame_Shift_Del_p.R464fs|HEPH_ENST00000519389.1_Frame_Shift_Del_p.R515fs|HEPH_ENST00000336279.5_Frame_Shift_Del_p.R194fs			Q9BQS7	HEPH_HUMAN	hephaestin	461	Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCAGTGATCCGGGCTGAGGTG	0.502																																																0													77.0	72.0	74.0					X																	65414952		2203	4300	6503	SO:0001589	frameshift_variant	9843			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1382delG	X.37:g.65414952delG	ENSP00000343939:p.Arg461fs		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Frame_Shift_Del	DEL	ENST00000343002.2	37																																																																																					0.502	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		25	47	25	47
