#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
OPN4	94233	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	88418311	88418311	+	Silent	SNP	C	C	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr10:88418311C>T	ENST00000241891.5	+	4	662	c.495C>T	c.(493-495)gcC>gcT	p.A165A	OPN4_ENST00000372071.2_Silent_p.A176A	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	165					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CGGCCATCGCCCTGGACCGCT	0.612																																																0													96.0	84.0	88.0					10																	88418311		2203	4300	6503	SO:0001819	synonymous_variant	94233			AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.495C>T	10.37:g.88418311C>T			B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Silent	SNP	ENST00000241891.5	37	CCDS7376.1																																																																																				0.612	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		8	81	8	81
IPO7	10527	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	9459665	9459665	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr11:9459665C>G	ENST00000379719.3	+	22	2670	c.2528C>G	c.(2527-2529)gCt>gGt	p.A843G		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	843					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GGACTCTGTGCTCTTATTGAT	0.308																																																0													146.0	158.0	154.0					11																	9459665		2201	4294	6495	SO:0001583	missense	10527			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.2528C>G	11.37:g.9459665C>G	ENSP00000369042:p.Ala843Gly		A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.381521	0.61845	.	.	ENSG00000205339	ENST00000379719	T	0.67865	-0.29	5.36	5.36	0.76844	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72875	0.3515	M	0.79123	2.44	0.80722	D	1	P	0.37330	0.59	B	0.40602	0.334	T	0.75698	-0.3227	10	0.52906	T	0.07	.	19.0792	0.93175	0.0:1.0:0.0:0.0	.	843	O95373	IPO7_HUMAN	G	843	ENSP00000369042:A843G	ENSP00000369042:A843G	A	+	2	0	IPO7	9416241	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	7.495000	0.81514	2.507000	0.84556	0.585000	0.79938	GCT		0.308	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		5	107	5	107
NYNRIN	57523	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	24884570	24884570	+	Silent	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr14:24884570G>A	ENST00000382554.3	+	9	3933	c.3615G>A	c.(3613-3615)ggG>ggA	p.G1205G		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1205					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCCAGTCAGGGGGTGACAGCC	0.622																																																0													65.0	71.0	69.0					14																	24884570		1907	4106	6013	SO:0001819	synonymous_variant	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3615G>A	14.37:g.24884570G>A			Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	CCDS45090.1																																																																																				0.622	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			13	95	13	95
NUTM1	256646	hgsc.bcm.edu;broad.mit.edu	37	15	34640382	34640382	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr15:34640382G>A	ENST00000333756.4	+	2	384	c.229G>A	c.(229-231)Ggc>Agc	p.G77S	NUTM1_ENST00000438749.3_Missense_Mutation_p.G95S|NUTM1_ENST00000537011.1_Missense_Mutation_p.G105S	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	77	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGGGGATGGGGGCCCTTGCCT	0.562																																																0													86.0	85.0	86.0					15																	34640382		2201	4298	6499	SO:0001583	missense	256646			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.229G>A	15.37:g.34640382G>A	ENSP00000329448:p.Gly77Ser		B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393715	0.25205	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.24723	1.84;1.84;1.84	5.69	2.79	0.32731	Nuclear Testis  protein, N-terminal (1);	0.364393	0.23444	N	0.048118	T	0.28001	0.0690	L	0.59436	1.845	0.09310	N	1	B;P;P	0.38597	0.437;0.639;0.552	B;B;B	0.42462	0.185;0.116;0.388	T	0.09164	-1.0687	10	0.49607	T	0.09	.	8.5956	0.33714	0.2121:0.0:0.7879:0.0	.	95;105;77	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	S	105;95;77;77	ENSP00000444896:G105S;ENSP00000407031:G95S;ENSP00000329448:G77S	ENSP00000329448:G77S	G	+	1	0	C15orf55	32427674	0.061000	0.20836	0.003000	0.11579	0.454000	0.32378	0.553000	0.23391	0.336000	0.23639	0.655000	0.94253	GGC		0.562	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		7	145	7	145
KIAA0100	9703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	26939672	26939672	+	IGR	SNP	C	C	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr17:26939672C>T	ENST00000528896.2	-	0	7407				SGK494_ENST00000301037.5_Missense_Mutation_p.G171R|SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.6_ENST00000579019.2_RNA|SGK494_ENST00000469832.3_5'UTR|RP11-192H23.4_ENST00000577790.1_Intron|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000534850.1_Intron	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGCTGTCCCCCAAGCTGTGT	0.488																																																0													128.0	102.0	111.0					17																	26939672		2203	4300	6503	SO:0001628	intergenic_variant	124923			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26939672C>T			A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202893	0.38905	.	.	ENSG00000167524	ENST00000301037;ENST00000530121	T;T	0.07216	3.21;3.21	5.97	4.01	0.46588	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.196128	0.44902	D	0.000414	T	0.05273	0.0140	N	0.16233	0.39	0.37812	D	0.928099	B	0.02656	0.0	B	0.10450	0.005	T	0.38824	-0.9643	10	0.23302	T	0.38	-11.3741	9.0967	0.36642	0.1457:0.7802:0.0:0.0741	.	171	Q96LW2	SG494_HUMAN	R	171;167	ENSP00000301037:G171R;ENSP00000434603:G167R	ENSP00000301037:G171R	G	-	1	0	AC005726.6	23963799	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.632000	0.37102	0.887000	0.36136	-0.741000	0.03529	GGG		0.488	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		13	69	13	69
GIPC3	126326	hgsc.bcm.edu;broad.mit.edu	37	19	3589459	3589459	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:3589459G>T	ENST00000322315.5	+	4	656	c.611G>T	c.(610-612)aGt>aTt	p.S204I		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	204										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCAGAGAAGTCGGTCCAGC	0.597																																																0													64.0	64.0	64.0					19																	3589459		2203	4300	6503	SO:0001583	missense	126326			AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.611G>T	19.37:g.3589459G>T	ENSP00000319254:p.Ser204Ile		O75227	Missense_Mutation	SNP	ENST00000322315.5	37	CCDS32871.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999588	0.35320	.	.	ENSG00000179855	ENST00000322315	D	0.82711	-1.64	4.58	3.5	0.40072	PDZ/DHR/GLGF (1);	0.233510	0.43416	D	0.000580	T	0.76183	0.3952	L	0.59436	1.845	0.39677	D	0.970842	P	0.37015	0.578	B	0.28305	0.088	T	0.80315	-0.1434	10	0.54805	T	0.06	-21.8112	11.863	0.52478	0.0:0.2259:0.7741:0.0	.	204	Q8TF64	GIPC3_HUMAN	I	204	ENSP00000319254:S204I	ENSP00000319254:S204I	S	+	2	0	GIPC3	3540459	0.290000	0.24343	0.981000	0.43875	0.762000	0.43233	0.733000	0.26087	2.095000	0.63458	0.484000	0.47621	AGT		0.597	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		6	93	6	93
SLC1A6	6511	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	15073150	15073150	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:15073150G>A	ENST00000221742.3	-	5	606	c.599C>T	c.(598-600)aCg>aTg	p.T200M	SLC1A6_ENST00000430939.2_Missense_Mutation_p.T136M|SLC1A6_ENST00000544886.2_Missense_Mutation_p.T200M|SLC1A6_ENST00000600144.1_Missense_Mutation_p.T200M|SLC1A6_ENST00000598504.1_Missense_Mutation_p.T200M	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	200					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GCTGTACTGCGTCTTGAACTG	0.532																																																0													100.0	93.0	95.0					19																	15073150		2203	4300	6503	SO:0001583	missense	6511				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.599C>T	19.37:g.15073150G>A	ENSP00000221742:p.Thr200Met		Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	g	21.2	4.110224	0.77210	.	.	ENSG00000105143	ENST00000430939;ENST00000221742;ENST00000544886	T;T;T	0.80214	-1.35;0.01;0.61	4.42	4.42	0.53409	.	0.099717	0.64402	D	0.000002	D	0.91536	0.7327	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.994;0.993	D	0.93481	0.6827	10	0.87932	D	0	-7.0532	14.6221	0.68594	0.0:0.0:1.0:0.0	.	136;200;200	E7EV13;Q8N753;P48664	.;.;EAA4_HUMAN	M	136;200;200	ENSP00000409386:T136M;ENSP00000221742:T200M;ENSP00000446175:T200M	ENSP00000221742:T200M	T	-	2	0	SLC1A6	14934150	1.000000	0.71417	0.987000	0.45799	0.910000	0.53928	8.290000	0.89925	2.310000	0.77875	0.454000	0.30748	ACG		0.532	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		22	107	22	107
CYP4F12	66002	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	15791263	15791263	+	Silent	SNP	C	C	T	rs199991130	byFrequency	TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:15791263C>T	ENST00000550308.1	+	5	839	c.459C>T	c.(457-459)ccC>ccT	p.P153P	CYP4F12_ENST00000324632.10_Silent_p.P153P	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	153					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	TGCTGACGCCCGCCTTCCATT	0.537																																																0								C		0,4406		0,0,2203	41.0	43.0	42.0		459	-5.8	0.2	19		42	1,8599		0,1,4299	no	coding-synonymous	CYP4F12	NM_023944.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		153/525	15791263	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	66002			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.459C>T	19.37:g.15791263C>T			E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	CCDS42517.1																																																																																				0.537	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			7	41	7	41
ATP4A	495	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	36046172	36046172	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:36046172A>T	ENST00000262623.3	-	15	2250	c.2222T>A	c.(2221-2223)aTc>aAc	p.I741N		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	741					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GGCTACTCCGATGTCTGCCTT	0.587																																																0													84.0	71.0	76.0					19																	36046172		2203	4300	6503	SO:0001583	missense	495				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2222T>A	19.37:g.36046172A>T	ENSP00000262623:p.Ile741Asn		O00738	Missense_Mutation	SNP	ENST00000262623.3	37	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.077531	0.76528	.	.	ENSG00000105675	ENST00000262623	D	0.98512	-4.97	4.88	4.88	0.63580	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000001	D	0.99402	0.9789	H	0.99197	4.465	0.80722	D	1	D	0.71674	0.998	D	0.91635	0.999	D	0.98168	1.0450	10	0.87932	D	0	.	12.4806	0.55839	1.0:0.0:0.0:0.0	.	741	P20648	ATP4A_HUMAN	N	741	ENSP00000262623:I741N	ENSP00000262623:I741N	I	-	2	0	ATP4A	40738012	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	9.139000	0.94554	2.056000	0.61249	0.379000	0.24179	ATC		0.587	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		11	83	11	83
RRAS	6237	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	50140129	50140129	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:50140129C>T	ENST00000246792.3	-	3	398	c.296G>A	c.(295-297)cGt>cAt	p.R99H		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	99					axon guidance (GO:0007411)|negative regulation of cell migration (GO:0030336)|positive regulation of angiogenesis (GO:0045766)|Ras protein signal transduction (GO:0007265)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		GTGGCCAGCACGCATGTACTG	0.667																																																0													90.0	84.0	86.0					19																	50140129		2203	4300	6503	SO:0001583	missense	6237				CCDS12774.1	19q13.33	2014-05-09				ENSG00000126458			10447	protein-coding gene	gene with protein product	"""Oncogene RRAS"""	165090				3098437	Standard	NM_006270		Approved		uc002pop.1	P10301		ENST00000246792.3:c.296G>A	19.37:g.50140129C>T	ENSP00000246792:p.Arg99His		Q6FH12	Missense_Mutation	SNP	ENST00000246792.3	37	CCDS12774.1	.	.	.	.	.	.	.	.	.	.	C	34	5.394105	0.96009	.	.	ENSG00000126458	ENST00000246792	D	0.82255	-1.59	4.82	4.82	0.62117	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	D	0.90889	0.7137	M	0.78637	2.42	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.92068	0.5662	10	0.87932	D	0	.	16.8035	0.85620	0.0:1.0:0.0:0.0	.	99	P10301	RRAS_HUMAN	H	99	ENSP00000246792:R99H	ENSP00000246792:R99H	R	-	2	0	RRAS	54831941	1.000000	0.71417	0.919000	0.36401	0.953000	0.61014	7.241000	0.78201	2.496000	0.84212	0.557000	0.71058	CGT		0.667	RRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465791.1	NM_006270		19	176	19	176
HMCN1	83872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	186055385	186055385	+	Silent	SNP	A	A	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr1:186055385A>T	ENST00000271588.4	+	58	9121	c.8892A>T	c.(8890-8892)ccA>ccT	p.P2964P	HMCN1_ENST00000367492.2_Silent_p.P2964P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2964	Ig-like C2-type 28.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAGTTCCTCCAAGTGTCATTG	0.368																																																0													115.0	111.0	113.0					1																	186055385		2203	4300	6503	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8892A>T	1.37:g.186055385A>T			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																				0.368	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		9	63	9	63
C4BPA	722	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	207297690	207297690	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr1:207297690C>A	ENST00000367070.3	+	6	879	c.685C>A	c.(685-687)Cca>Aca	p.P229T		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	229	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGTTTGGAGACCAAGCCCTCC	0.428																																																0													71.0	74.0	73.0					1																	207297690		2203	4300	6503	SO:0001583	missense	722			M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.685C>A	1.37:g.207297690C>A	ENSP00000356037:p.Pro229Thr		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412574	0.25465	.	.	ENSG00000123838	ENST00000367070	T	0.66460	-0.21	5.61	1.62	0.23740	Complement control module (2);Sushi/SCR/CCP (3);	0.453747	0.20838	N	0.084757	T	0.73845	0.3639	M	0.66560	2.04	0.19300	N	0.999977	D	0.89917	1.0	D	0.80764	0.994	T	0.62840	-0.6769	10	0.18276	T	0.48	.	8.1829	0.31322	0.0:0.6739:0.0:0.3261	.	229	P04003	C4BPA_HUMAN	T	229	ENSP00000356037:P229T	ENSP00000356037:P229T	P	+	1	0	C4BPA	205364313	0.000000	0.05858	0.368000	0.25939	0.052000	0.14988	-0.051000	0.11885	0.115000	0.18071	-0.781000	0.03364	CCA		0.428	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			13	53	13	53
RTN4R	65078	hgsc.bcm.edu;broad.mit.edu	37	22	20229976	20229976	+	Missense_Mutation	SNP	C	C	T	rs576939822	byFrequency	TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr22:20229976C>T	ENST00000043402.7	-	2	1118	c.680G>A	c.(679-681)cGc>cAc	p.R227H	RTN4R_ENST00000469601.1_5'Flank	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	227					axonogenesis (GO:0007409)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					TGTCATGAGGCGGCCAAGGTC	0.642													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19975	0.0		0.0	False		,,,				2504	0.0															0													61.0	63.0	63.0					22																	20229976		2203	4300	6503	SO:0001583	missense	65078			AF283463	CCDS13777.1	22q11	2008-05-02			ENSG00000040608	ENSG00000040608			18601	protein-coding gene	gene with protein product		605566				11201742	Standard	NM_023004		Approved	NOGOR	uc002zrv.3	Q9BZR6	OTTHUMG00000150572	ENST00000043402.7:c.680G>A	22.37:g.20229976C>T	ENSP00000043402:p.Arg227His		D3DX28	Missense_Mutation	SNP	ENST00000043402.7	37	CCDS13777.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.15|10.15	1.270231|1.270231	0.23221|0.23221	.|.	.|.	ENSG00000040608|ENSG00000040608	ENST00000416372;ENST00000425986|ENST00000043402	.|T	.|0.02446	.|4.29	4.36|4.36	1.17|1.17	0.20885|0.20885	.|.	.|0.222876	.|0.23222	.|N	.|0.050541	T|T	0.02047|0.02047	0.0064|0.0064	L|L	0.31207|0.31207	0.915|0.915	0.23293|0.23293	N|N	0.997968|0.997968	.|P	.|0.48089	.|0.905	.|B	.|0.36608	.|0.229	T|T	0.50841|0.50841	-0.8780|-0.8780	5|10	.|0.51188	.|T	.|0.08	.|.	7.6726|7.6726	0.28468|0.28468	0.0:0.7021:0.0:0.2979|0.0:0.7021:0.0:0.2979	.|.	.|227	.|Q9BZR6	.|RTN4R_HUMAN	T|H	247;313|227	.|ENSP00000043402:R227H	.|ENSP00000043402:R227H	A|R	-|-	1|2	0|0	RTN4R|RTN4R	18609976|18609976	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.152000|0.152000	0.21847|0.21847	0.576000|0.576000	0.23744|0.23744	0.600000|0.600000	0.29862|0.29862	0.561000|0.561000	0.74099|0.74099	GCC|CGC		0.642	RTN4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318950.2			7	83	7	83
SNRNP200	23020	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	96970469	96970469	+	Silent	SNP	C	C	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr2:96970469C>T	ENST00000323853.5	-	2	260	c.183G>A	c.(181-183)ccG>ccA	p.P61P	AC021188.4_ENST00000421534.1_RNA|SNRNP200_ENST00000349783.5_Silent_p.P61P	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	61					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCTGCATCTGCGGTTTGGTCC	0.527																																																0													130.0	115.0	121.0					2																	96970469		2203	4300	6503	SO:0001819	synonymous_variant	23020			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.183G>A	2.37:g.96970469C>T			O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	CCDS2020.1																																																																																				0.527	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		8	130	8	130
FARP2	9855	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	242432832	242432832	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr2:242432832G>A	ENST00000264042.3	+	26	3190	c.3020G>A	c.(3019-3021)cGg>cAg	p.R1007Q	STK25_ENST00000478403.1_5'Flank|STK25_ENST00000316586.4_3'UTR	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	1007	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1007Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TACTTCTTCCGGGCTGAGAGC	0.527																																																1	Substitution - Missense(1)	endometrium(1)											81.0	80.0	80.0					2																	242432832		2203	4300	6503	SO:0001583	missense	9855			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.3020G>A	2.37:g.242432832G>A	ENSP00000264042:p.Arg1007Gln		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	CCDS33424.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.566512|5.566512	0.96540|0.96540	.|.	.|.	ENSG00000006607|ENSG00000006607	ENST00000412332|ENST00000264042	.|T	.|0.11277	.|2.79	5.18|5.18	5.18|5.18	0.71444|0.71444	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.13243|0.13243	0.0321|0.0321	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|P	.|0.43094	.|0.799	.|B	.|0.34180	.|0.177	T|T	0.03148|0.03148	-1.1067|-1.1067	5|10	.|0.87932	.|D	.|0	.|.	19.0705|19.0705	0.93134|0.93134	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1007	.|O94887	.|FARP2_HUMAN	R|Q	9|1007	.|ENSP00000264042:R1007Q	.|ENSP00000264042:R1007Q	G|R	+|+	1|2	0|0	FARP2|FARP2	242081505|242081505	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.828000|7.828000	0.86729|0.86729	2.574000|2.574000	0.86865|0.86865	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.527	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			7	63	7	63
C3orf30	152405	hgsc.bcm.edu;broad.mit.edu	37	3	118865808	118865808	+	Missense_Mutation	SNP	A	A	G	rs373733827		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr3:118865808A>G	ENST00000295622.1	+	1	812	c.772A>G	c.(772-774)Att>Gtt	p.I258V	RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	258										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TTCCGTACAGATTGACCGCAG	0.502																																																0													93.0	92.0	93.0					3																	118865808		2203	4300	6503	SO:0001583	missense	0			AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.772A>G	3.37:g.118865808A>G	ENSP00000295622:p.Ile258Val		A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	CCDS2984.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.089|0.089	-1.169556|-1.169556	0.01660|0.01660	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000460150;ENST00000473121|ENST00000295622;ENST00000470341	.|T	.|0.34072	.|1.38	3.74|3.74	-3.08|-3.08	0.05347|0.05347	.|.	.|1.453590	.|0.04375	.|N	.|0.359780	T|T	0.15825|0.15825	0.0381|0.0381	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	.|B;B	.|0.10296	.|0.003;0.003	.|B;B	.|0.12156	.|0.007;0.007	T|T	0.15407|0.15407	-1.0438|-1.0438	5|10	.|0.28530	.|T	.|0.3	-0.381|-0.381	4.7989|4.7989	0.13287|0.13287	0.4875:0.0:0.3683:0.1442|0.4875:0.0:0.3683:0.1442	.|.	.|258;258	.|E9PFE5;Q96M34	.|.;CC030_HUMAN	G|V	221;50|258	.|ENSP00000295622:I258V	.|ENSP00000295622:I258V	D|I	+|+	2|1	0|0	C3orf30|C3orf30	120348498|120348498	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.359000|0.359000	0.20233|0.20233	-0.603000|-0.603000	0.05767|0.05767	-0.400000|-0.400000	0.06385|0.06385	GAT|ATT		0.502	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		5	73	5	73
TAS2R1	50834	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	9629469	9629469	+	Missense_Mutation	SNP	C	C	T	rs145804099		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr5:9629469C>T	ENST00000382492.2	-	1	994	c.676G>A	c.(676-678)Gcg>Acg	p.A226T	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	226					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.A226S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GACAGCAACGCGCTGATGGGT	0.498																																																1	Substitution - Missense(1)	lung(1)						C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	63.0	71.0	68.0		676	-0.5	0.0	5	dbSNP_134	68	0,8600		0,0,4300	no	missense	TAS2R1	NM_019599.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	226/300	9629469	1,13005	2203	4300	6503	SO:0001583	missense	50834			AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.676G>A	5.37:g.9629469C>T	ENSP00000371932:p.Ala226Thr		Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643312	0.67244	2.27E-4	0.0	ENSG00000169777	ENST00000382492	T	0.01422	4.91	5.55	-0.544	0.11847	.	0.147373	0.43919	N	0.000501	T	0.04137	0.0115	M	0.83774	2.66	0.09310	N	1	D	0.67145	0.996	P	0.56343	0.796	T	0.27872	-1.0061	9	.	.	.	.	3.1173	0.06379	0.1096:0.5237:0.1658:0.2009	.	226	Q9NYW7	TA2R1_HUMAN	T	226	ENSP00000371932:A226T	.	A	-	1	0	TAS2R1	9682469	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	0.279000	0.18771	-0.293000	0.08986	0.655000	0.94253	GCG		0.498	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			9	57	9	57
FOXQ1	94234	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	1313285	1313285	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr6:1313285C>T	ENST00000296839.2	+	1	611	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	116					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GCCATATACGCGGCGGCCCAA	0.746																																																0													17.0	20.0	19.0					6																	1313285		2178	4266	6444	SO:0001583	missense	94234			AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.346C>T	6.37:g.1313285C>T	ENSP00000296839:p.Arg116Trp		Q9NS06	Missense_Mutation	SNP	ENST00000296839.2	37	CCDS4471.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780091	0.70222	.	.	ENSG00000164379	ENST00000296839	D	0.95001	-3.58	3.77	2.86	0.33363	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.64402	U	0.000002	D	0.93546	0.7940	L	0.40543	1.245	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.93449	0.6800	10	0.87932	D	0	.	11.0004	0.47602	0.1882:0.8118:0.0:0.0	.	116	Q9C009	FOXQ1_HUMAN	W	116	ENSP00000296839:R116W	ENSP00000296839:R116W	R	+	1	2	FOXQ1	1258285	0.998000	0.40836	0.996000	0.52242	0.415000	0.31203	2.468000	0.45102	0.540000	0.28808	0.184000	0.17185	CGG		0.746	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260		10	54	10	54
MRS2	57380	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	24412567	24412567	+	Missense_Mutation	SNP	G	G	A	rs200245617	byFrequency	TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr6:24412567G>A	ENST00000378386.3	+	5	625	c.532G>A	c.(532-534)Gtt>Att	p.V178I	MRS2_ENST00000535061.1_Missense_Mutation_p.V128I|MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000378353.1_Missense_Mutation_p.V178I|MRS2_ENST00000443868.2_Missense_Mutation_p.V181I|MRS2_ENST00000543597.1_5'UTR	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	178						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)	p.V178I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						GGGTCAACTCGTTACATACCC	0.388													G|||	10	0.00199681	0.0	0.0	5008	,	,		16090	0.0		0.0	False		,,,				2504	0.0102															1	Substitution - Missense(1)	endometrium(1)						G	ILE/VAL	0,4406		0,0,2203	147.0	140.0	142.0		532	5.5	1.0	6		142	7,8593	5.7+/-21.5	0,7,4293	yes	missense	MRS2	NM_020662.2	29	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	probably-damaging	178/444	24412567	7,12999	2203	4300	6503	SO:0001583	missense	57380			AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"""MRS2-like, magnesium homeostasis factor (S. cerevisiae)"", ""MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"""	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.532G>A	6.37:g.24412567G>A	ENSP00000367637:p.Val178Ile		A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Missense_Mutation	SNP	ENST00000378386.3	37	CCDS4552.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809605	0.70797	0.0	8.14E-4	ENSG00000124532	ENST00000535061;ENST00000378386;ENST00000378353;ENST00000443868	T;T;T;T	0.44083	1.48;1.5;0.93;1.46	5.48	5.48	0.80851	.	0.073046	0.53938	D	0.000042	T	0.47229	0.1434	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.998;0.997	P;P;P;P	0.60789	0.772;0.879;0.808;0.619	T	0.16748	-1.0392	10	0.21014	T	0.42	-19.8841	19.3383	0.94329	0.0:0.0:1.0:0.0	.	128;181;178;178	F5GWH3;B4DQL2;Q9HD23;Q9HD23-2	.;.;MRS2_HUMAN;.	I	128;178;178;181	ENSP00000441839:V128I;ENSP00000367637:V178I;ENSP00000367604:V178I;ENSP00000399585:V181I	ENSP00000367604:V178I	V	+	1	0	MRS2	24520546	1.000000	0.71417	0.996000	0.52242	0.909000	0.53808	7.295000	0.78780	2.579000	0.87056	0.462000	0.41574	GTT		0.388	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040002.1			8	113	8	113
SLC22A16	85413	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	110778136	110778136	+	Silent	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr6:110778136G>A	ENST00000368919.3	-	2	204	c.138C>T	c.(136-138)gtC>gtT	p.V46V	SLC22A16_ENST00000456137.2_Silent_p.V46V|SLC22A16_ENST00000439654.1_Silent_p.V46V|SLC22A16_ENST00000330550.4_Silent_p.V44V|SLC22A16_ENST00000461487.1_5'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	46					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	GATGAGGGGTGACTCCCATGA	0.473																																																0													65.0	68.0	67.0					6																	110778136		2203	4300	6503	SO:0001819	synonymous_variant	85413				CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.138C>T	6.37:g.110778136G>A			O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Silent	SNP	ENST00000368919.3	37	CCDS5084.1																																																																																				0.473	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		6	45	6	45
EGFR	1956	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		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)	TGCCCGGCAGGAGTCATGGGA	0.567		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"""	15	Substitution - Missense(15)	central_nervous_system(15)											96.0	84.0	88.0					7																	55233043		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.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		200	162	200	162
FBXO24	26261	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	100187922	100187922	+	Silent	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr7:100187922G>A	ENST00000241071.6	+	3	586	c.264G>A	c.(262-264)ccG>ccA	p.P88P	PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Silent_p.P88P|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000468962.1_Silent_p.P76P|FBXO24_ENST00000360609.2_Silent_p.P88P|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000427939.2_Silent_p.P126P	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	88					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GACTCAGTCCGCGCCTCCAAG	0.602																																																0													68.0	57.0	61.0					7																	100187922		2203	4300	6503	SO:0001819	synonymous_variant	26261			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.264G>A	7.37:g.100187922G>A			A4D2D4|B4DX91|B4DY42|Q9H0G1	Silent	SNP	ENST00000241071.6	37	CCDS5698.1																																																																																				0.602	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			10	45	10	45
FLNC	2318	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	128490958	128490958	+	Missense_Mutation	SNP	C	C	T	rs377141822		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr7:128490958C>T	ENST00000325888.8	+	33	5761	c.5500C>T	c.(5500-5502)Cac>Tac	p.H1834Y	FLNC_ENST00000346177.6_Missense_Mutation_p.H1801Y|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1834					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAAAGGCCTGCACCAGATGGG	0.617																																																0								C	TYR/HIS,TYR/HIS	0,4272		0,0,2136	131.0	135.0	134.0		5401,5500	5.5	1.0	7		134	1,8451		0,1,4225	no	missense,missense	FLNC	NM_001127487.1,NM_001458.4	83,83	0,1,6361	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging,probably-damaging	1801/2693,1834/2726	128490958	1,12723	2136	4226	6362	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5500C>T	7.37:g.128490958C>T	ENSP00000327145:p.His1834Tyr		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901269	0.92035	0.0	1.18E-4	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.38887	1.11;1.11	5.53	5.53	0.82687	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.998;1.0	T	0.61997	-0.6947	10	0.45353	T	0.12	.	19.4469	0.94851	0.0:1.0:0.0:0.0	.	1801;1834	Q14315-2;Q14315	.;FLNC_HUMAN	Y	1834;1801	ENSP00000327145:H1834Y;ENSP00000344002:H1801Y	ENSP00000327145:H1834Y	H	+	1	0	FLNC	128278194	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.768000	0.85345	2.581000	0.87130	0.655000	0.94253	CAC		0.617	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			21	231	21	231
MYOM2	9172	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	2027640	2027640	+	Splice_Site	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr8:2027640G>A	ENST00000262113.4	+	13	1603		c.e13-1		MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2						muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCTCTCCGCAGCCGTTCATTT	0.512																																																0													306.0	299.0	301.0					8																	2027640		2203	4300	6503	SO:0001630	splice_region_variant	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1463-1G>A	8.37:g.2027640G>A			Q7Z3Y2	Splice_Site	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837462	0.32513	.	.	ENSG00000036448	ENST00000262113	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8744	0.92328	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYOM2	2015047	1.000000	0.71417	0.849000	0.33467	0.010000	0.07245	7.783000	0.85696	2.449000	0.82847	0.655000	0.94253	.		0.512	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	Intron	51	397	51	397
PHKA2	5256	hgsc.bcm.edu;ucsc.edu	37	X	18956823	18956823	+	Silent	SNP	G	G	A	rs35010660	byFrequency	TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chrX:18956823G>A	ENST00000379942.4	-	10	1628	c.963C>T	c.(961-963)ttC>ttT	p.F321F		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	321					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CAATGTTTTCGAAGAGCTTGA	0.383													g|||	22	0.00582781	0.0159	0.0014	3775	,	,		14380	0.0		0.0	False		,,,				2504	0.0															0										77,3758		0,66,11,1566,560	115.0	101.0	106.0		963	-0.3	1.0	X	dbSNP_126	106	1,6727		0,1,0,2427,1872	no	coding-synonymous	PHKA2	NM_000292.2		0,67,11,3993,2432	AA,AG,A,GG,G		0.0149,2.0078,0.7384		321/1236	18956823	78,10485	2203	4300	6503	SO:0001819	synonymous_variant	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.963C>T	X.37:g.18956823G>A			A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	ENST00000379942.4	37	CCDS14190.1																																																																																				0.383	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		17	86	17	86
GPRASP1	9737	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	101912054	101912054	+	Silent	SNP	G	G	A	rs369914637		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chrX:101912054G>A	ENST00000361600.5	+	5	4014	c.3213G>A	c.(3211-3213)ccG>ccA	p.P1071P	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Silent_p.P1071P|GPRASP1_ENST00000444152.1_Silent_p.P1071P|GPRASP1_ENST00000537097.1_Silent_p.P1071P	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1071	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTAGATTTCCGAAAGAGGCAG	0.512																																																0								G	,,,,	1,3834		0,1,1631,571	116.0	120.0	118.0		3213,3213,3213,,3213	-5.7	0.0	X		118	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	GPRASP1,ARMCX5-GPRASP2	NM_001099410.1,NM_001099411.1,NM_001184727.1,NM_001199818.1,NM_014710.4	,,,,	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	,,,,	1071/1396,1071/1396,1071/1396,,1071/1396	101912054	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3213G>A	X.37:g.101912054G>A			O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	CCDS35352.1																																																																																				0.512	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		20	154	20	154
SEPT6	23157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	118774683	118774683	+	Silent	SNP	C	C	T	rs143382025		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chrX:118774683C>T	ENST00000343984.5	-	6	1023	c.759G>A	c.(757-759)gcG>gcA	p.A253A	SEPT6_ENST00000354228.4_Silent_p.A253A|SEPT6_ENST00000394617.2_Silent_p.A283A|SEPT6_ENST00000489216.1_Silent_p.A253A|SEPT6_ENST00000360156.7_Silent_p.A253A|SEPT6_ENST00000354416.3_Silent_p.A253A|SEPT6_ENST00000394616.4_Silent_p.A195A|SEPT6_ENST00000394610.1_Silent_p.A253A	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	253	Septin-type G.				cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)	p.A253A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GATACTGCCGCGCCCTCATCA	0.547			T	MLL	AML																																		Dom	yes		X	Xq24	23157	septin 6		L	1	Substitution - coding silent(1)	central_nervous_system(1)						C	,,,	1,3834		0,1,1631,571	192.0	135.0	154.0		759,759,759,759	-11.2	0.0	X	dbSNP_134	154	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEPT6	NM_015129.5,NM_145799.3,NM_145800.3,NM_145802.3	,,,	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	,,,	253/435,253/428,253/428,253/430	118774683	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	23157			D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"""Septins"""	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.759G>A	X.37:g.118774683C>T			Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Silent	SNP	ENST00000343984.5	37	CCDS14584.1																																																																																				0.547	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		23	181	23	181
RFX4	5992	broad.mit.edu;ucsc.edu	37	12	107090062	107090062	+	Splice_Site	SNP	T	T	G			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr12:107090062T>G	ENST00000392842.1	+	8	1085	c.671T>G	c.(670-672)gTt>gGt	p.V224G	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Splice_Site_p.V130G|RFX4_ENST00000357881.4_Splice_Site_p.V233G	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	224					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TCAATACAGGTTCAAAGTTTC	0.552																																																0													110.0	95.0	101.0					12																	107090062		2203	4300	6503	SO:0001630	splice_region_variant	5992			AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.670-1T>G	12.37:g.107090062T>G			A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Splice_Site	SNP	ENST00000392842.1	37	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.621320	0.87460	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000551640;ENST00000229387	T;T;D;T	0.88509	-0.41;-0.4;-2.39;0.56	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.93910	0.8051	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.69078	0.993;0.981;0.981;0.997	D;D;D;D	0.72625	0.915;0.978;0.978;0.969	D	0.94615	0.7808	10	0.87932	D	0	-11.873	15.5434	0.76074	0.0:0.0:0.0:1.0	.	130;233;233;224	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	G	224;233;233;169;130	ENSP00000376585:V224G;ENSP00000350552:V233G;ENSP00000448694:V169G;ENSP00000229387:V130G	ENSP00000229387:V130G	V	+	2	0	RFX4	105614192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.575000	0.82447	2.064000	0.61679	0.533000	0.62120	GTT		0.552	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491	Missense_Mutation	14	67	14	67
