#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NLRP12	91662	broad.mit.edu	37	19	54313268	54313268	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr19:54313268C>T	ENST00000324134.6	-	3	1813	c.1645G>A	c.(1645-1647)Gcg>Acg	p.A549T	NLRP12_ENST00000354278.3_Missense_Mutation_p.A549T|NLRP12_ENST00000391772.1_Missense_Mutation_p.A549T|NLRP12_ENST00000391775.3_Missense_Mutation_p.A549T|NLRP12_ENST00000535162.1_Missense_Mutation_p.A549T|NLRP12_ENST00000345770.5_Missense_Mutation_p.A549T|NLRP12_ENST00000351894.4_Missense_Mutation_p.A549T|NLRP12_ENST00000391773.1_Missense_Mutation_p.A549T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	549					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCAGAAAACGCGTACTCGGTC	0.572																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(1645-1647)Gcg>Acg		NLR family, pyrin domain containing 12							95.0	88.0	90.0					19																	54313268		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313268C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1645G>A	19.37:g.54313268C>T	ENSP00000319377:p.Ala549Thr					NLRP12_ENST00000391773.1_Missense_Mutation_p.A549T|NLRP12_ENST00000351894.4_Missense_Mutation_p.A549T|NLRP12_ENST00000391772.1_Missense_Mutation_p.A549T|NLRP12_ENST00000535162.1_Missense_Mutation_p.A549T|NLRP12_ENST00000391775.3_Missense_Mutation_p.A549T|NLRP12_ENST00000354278.3_Missense_Mutation_p.A549T|NLRP12_ENST00000345770.5_Missense_Mutation_p.A549T	p.A549T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1813	-	Ovarian(34;0.19)		549					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.1645G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	5.638	0.302339	0.10678	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	4.21	3.17	0.36434	.	1.019360	0.07897	N	0.972015	T	0.78780	0.4337	L	0.34521	1.04	0.21445	N	0.999685	P;P;B;P	0.44659	0.84;0.739;0.384;0.783	B;B;B;B	0.31390	0.129;0.091;0.035;0.091	T	0.64343	-0.6430	10	0.16896	T	0.51	.	8.3095	0.32062	0.0:0.887:0.0:0.113	.	549;549;549;549	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	T	549	ENSP00000319377:A549T;ENSP00000438030:A549T;ENSP00000340473:A549T;ENSP00000346231:A549T;ENSP00000375655:A549T;ENSP00000375653:A549T;ENSP00000375652:A549T	ENSP00000319377:A549T	A	-	1	0	NLRP12	59005080	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.226000	0.09139	0.902000	0.36520	0.485000	0.47835	GCG		0.572	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		67	91	0	0	0	1	0	67	91				
DPP10	57628	broad.mit.edu	37	2	116548892	116548892	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr2:116548892G>C	ENST00000410059.1	+	19	2140	c.1660G>C	c.(1660-1662)Gat>Cat	p.D554H	DPP10_ENST00000409163.1_Missense_Mutation_p.D504H|DPP10_ENST00000393147.2_Missense_Mutation_p.D558H|DPP10_ENST00000310323.8_Missense_Mutation_p.D547H	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	554						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CCTTCCCAAAGATTTTATGGA	0.299																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(1660-1662)Gat>Cat		dipeptidyl-peptidase 10 (non-functional)							95.0	98.0	97.0					2																	116548892		2203	4299	6502	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116548892G>C	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1660G>C	2.37:g.116548892G>C	ENSP00000386565:p.Asp554His					DPP10_ENST00000409163.1_Missense_Mutation_p.D504H|DPP10_ENST00000393147.2_Missense_Mutation_p.D558H|DPP10_ENST00000310323.8_Missense_Mutation_p.D547H	p.D554H	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			19	2140	+			554					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1660G>C	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843159	0.71488	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.63570	0.2522	M	0.77103	2.36	0.58432	D	0.999994	D;D;P;P	0.67145	0.971;0.996;0.95;0.95	P;P;P;P	0.58013	0.769;0.831;0.687;0.592	T	0.58278	-0.7664	10	0.18710	T	0.47	-21.3156	16.7937	0.85596	0.0:0.0:1.0:0.0	.	547;558;550;554	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	H	554;504;558;547;504	ENSP00000386565:D554H;ENSP00000387038:D504H;ENSP00000376855:D558H;ENSP00000309066:D547H	ENSP00000309066:D547H	D	+	1	0	DPP10	116265362	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.612000	0.74187	2.880000	0.98712	0.650000	0.86243	GAT		0.299	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		26	35	0	0	0	1	0	26	35				
FAXC	84553	broad.mit.edu	37	6	99729258	99729258	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr6:99729258C>A	ENST00000389677.5	-	6	1294	c.1012G>T	c.(1012-1014)Gat>Tat	p.D338Y	FAXC_ENST00000538471.1_Missense_Mutation_p.D58Y|FAXC_ENST00000461803.1_5'UTR	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	338						integral component of membrane (GO:0016021)											GTATTGTCATCATCGTGGTGC	0.483																																						ENST00000389677.5																			0											c.(1012-1014)Gat>Tat		failed axon connections homolog (Drosophila)							136.0	128.0	131.0					6																	99729258		2203	4300	6503	SO:0001583	missense	84553							g.chr6:99729258C>A	BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 168"""	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.1012G>T	6.37:g.99729258C>A	ENSP00000374328:p.Asp338Tyr					FAXC_ENST00000461803.1_5'UTR|FAXC_ENST00000538471.1_Missense_Mutation_p.D58Y	p.D338Y	NM_032511.2	NP_115900.1	Q5TGI0	CF168_HUMAN			6	1294	-			338					B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Missense_Mutation	SNP	ENST00000389677.5	37	c.1012G>T	CCDS34500.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.950668	0.53186	.	.	ENSG00000146267	ENST00000389677;ENST00000538471	.	.	.	5.29	5.29	0.74685	.	0.132739	0.52532	D	0.000071	T	0.28400	0.0702	L	0.36672	1.1	0.50313	D	0.999866	P	0.49447	0.924	P	0.47981	0.563	T	0.28681	-1.0036	9	0.02654	T	1	-31.7757	12.3122	0.54935	0.0:0.9229:0.0:0.0771	.	338	Q5TGI0	CF168_HUMAN	Y	338;58	.	ENSP00000374328:D338Y	D	-	1	0	C6orf168	99835979	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	2.885000	0.48570	2.459000	0.83118	0.655000	0.94253	GAT		0.483	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041589.4	NM_032511		37	62	1	0	6.29468e-14	1	6.81924e-14	37	62				
OR5D13	390142	broad.mit.edu	37	11	55541562	55541562	+	Silent	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr11:55541562C>T	ENST00000361760.1	+	1	649	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				AATTATCATTCTGACATCATA	0.438																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(649-651)Ctg>Ttg		olfactory receptor, family 5, subfamily D, member 13							138.0	130.0	133.0					11																	55541562		2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541562C>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.649C>T	11.37:g.55541562C>T							p.L217L	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	649	+		all_epithelial(135;0.196)	217					Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.649C>T	CCDS31507.1																																																																																				0.438	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		7	184	0	0	0	1	0	7	184				
SLC39A8	64116	broad.mit.edu	37	4	103236897	103236897	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr4:103236897C>T	ENST00000394833.2	-	2	786	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	SLC39A8_ENST00000424970.2_Missense_Mutation_p.V104I|SLC39A8_ENST00000356736.4_Missense_Mutation_p.V104I|SLC39A8_ENST00000510255.1_5'UTR	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	104					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		TGCTGTAAGACTGCTGGACAG	0.393																																						ENST00000424970.2																			0				large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(310-312)Gtc>Atc		solute carrier family 39 (zinc transporter), member 8							185.0	181.0	183.0					4																	103236897		2203	4300	6503	SO:0001583	missense	64116					integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr4:103236897C>T		CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"""Solute carriers"""	20862	protein-coding gene	gene with protein product		608732	"""solute carrier family 39 (metal ion transporter), member 8"""			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.310G>A	4.37:g.103236897C>T	ENSP00000378310:p.Val104Ile					SLC39A8_ENST00000394833.2_Missense_Mutation_p.V104I|SLC39A8_ENST00000356736.4_Missense_Mutation_p.V104I|SLC39A8_ENST00000510255.1_5'UTR	p.V104I	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)	3	625	-		Hepatocellular(203;0.217)	104					B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Missense_Mutation	SNP	ENST00000394833.2	37	c.310G>A	CCDS3656.1	.	.	.	.	.	.	.	.	.	.	C	2.651	-0.281999	0.05642	.	.	ENSG00000138821	ENST00000424970;ENST00000356736;ENST00000394833	T;T;T	0.69435	-0.25;-0.4;-0.4	5.36	2.63	0.31362	.	0.341708	0.26895	N	0.021954	T	0.38453	0.1041	N	0.13235	0.315	0.25637	N	0.986247	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.10450	0.002;0.002;0.005	T	0.29761	-1.0001	10	0.02654	T	1	-27.0275	4.9505	0.14011	0.0:0.5964:0.1546:0.249	.	104;104;37	B4E2H3;Q9C0K1;Q9C0K1-2	.;S39A8_HUMAN;.	I	104	ENSP00000394548:V104I;ENSP00000349174:V104I;ENSP00000378310:V104I	ENSP00000349174:V104I	V	-	1	0	SLC39A8	103455920	0.930000	0.31532	0.089000	0.20774	0.993000	0.82548	1.649000	0.37281	0.228000	0.21019	0.591000	0.81541	GTC		0.393	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253798.1	NM_022154		16	115	0	0	0	1	0	16	115				
TUBGCP6	85378	broad.mit.edu	37	22	50682457	50682457	+	Silent	SNP	C	C	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr22:50682457C>A	ENST00000248846.5	-	1	536	c.432G>T	c.(430-432)ccG>ccT	p.P144P	MAPK12_ENST00000497036.1_5'Flank|HDAC10_ENST00000498366.1_5'Flank|TUBGCP6_ENST00000439308.2_Silent_p.P144P			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	144					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGCCGCTGTACGGAACGTTTC	0.512																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(430-432)ccG>ccT		tubulin, gamma complex associated protein 6							100.0	95.0	97.0					22																	50682457		2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50682457C>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.432G>T	22.37:g.50682457C>A						TUBGCP6_ENST00000248846.5_Silent_p.P144P	p.P144P	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	924	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	144					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.432G>T	CCDS14087.1																																																																																				0.512	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		13	61	1	0	4.3838e-07	1	4.58535e-07	13	61				
HSP90AB1	3326	broad.mit.edu	37	6	44218816	44218816	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr6:44218816G>A	ENST00000371554.1	+	7	1203	c.989G>A	c.(988-990)aGg>aAg	p.R330K	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R330K|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R330K			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	330					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTGGAATTCAGGGCATTGCTA	0.398																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(988-990)aGg>aAg		heat shock protein 90kDa alpha (cytosolic), class B member 1							126.0	127.0	126.0					6																	44218816		2203	4300	6503	SO:0001583	missense	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44218816G>A	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.989G>A	6.37:g.44218816G>A	ENSP00000360609:p.Arg330Lys					HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R330K|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R330K	p.R330K			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		7	1203	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		330					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.989G>A	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291266	0.59976	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.08720	3.06;3.06;3.06	4.76	4.76	0.60689	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.64402	U	0.000004	T	0.02649	0.0080	N	0.17723	0.515	0.80722	D	1	B;B;B	0.16802	0.019;0.004;0.008	B;B;B	0.16722	0.016;0.016;0.016	T	0.42949	-0.9421	10	0.16896	T	0.51	-18.8701	17.7586	0.88457	0.0:0.0:1.0:0.0	.	292;320;330	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	K	330	ENSP00000360709:R330K;ENSP00000325875:R330K;ENSP00000360609:R330K	ENSP00000325875:R330K	R	+	2	0	HSP90AB1	44326794	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.840000	0.99478	2.212000	0.71576	0.484000	0.47621	AGG		0.398	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		85	123	0	0	0	1	0	85	123				
LOC645166	645166	broad.mit.edu	37	1	148933291	148933291	+	lincRNA	SNP	G	G	A	rs190817027	byFrequency	TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr1:148933291G>A	ENST00000539543.1	+	0	177					NR_027355.2																						CTGCCCGCAGGATATTGTGGC	0.557																																						ENST00000539543.1																			0																																																			645166							g.chr1:148933291G>A																													1.37:g.148933291G>A								NR_027355.1						0	177	+									RNA	SNP	ENST00000539543.1	37																																																																																						0.557	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA				3	17	0	0	0	1	0	3	17				
ZNF804B	219578	broad.mit.edu	37	7	88963928	88963928	+	Silent	SNP	T	T	C			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr7:88963928T>C	ENST00000333190.4	+	4	2241	c.1632T>C	c.(1630-1632)gaT>gaC	p.D544D		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	544							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTAATCCGGATTGGGAAAAAT	0.348										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(1630-1632)gaT>gaC		zinc finger protein 804B							45.0	48.0	47.0					7																	88963928		2201	4297	6498	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88963928T>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1632T>C	7.37:g.88963928T>C		HNSCC(36;0.09)					p.D544D	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2241	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		544					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.1632T>C	CCDS5613.1																																																																																				0.348	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		8	47	0	0	0	1	0	8	47				
EIF2S1	1965	broad.mit.edu	37	14	67831619	67831619	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr14:67831619G>A	ENST00000256383.4	+	2	596	c.135G>A	c.(133-135)atG>atA	p.M45I	EIF2S1_ENST00000466499.2_Missense_Mutation_p.M45I	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	45	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		TTGAAGGCATGATTCTTCTTA	0.428																																						ENST00000256383.4																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(133-135)atG>atA		eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa							181.0	167.0	172.0					14																	67831619		2203	4300	6503	SO:0001583	missense	1965					cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity	g.chr14:67831619G>A	J02645	CCDS9781.1	14q21.3	2011-01-07	2002-08-29		ENSG00000134001	ENSG00000134001			3265	protein-coding gene	gene with protein product		603907	"""eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD )"""	EIF2		2948954	Standard	NM_004094		Approved	EIF-2alpha, EIF2A	uc001xjg.3	P05198	OTTHUMG00000029800	ENST00000256383.4:c.135G>A	14.37:g.67831619G>A	ENSP00000256383:p.Met45Ile					EIF2S1_ENST00000466499.2_Missense_Mutation_p.M45I	p.M45I	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN		all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)	2	596	+			45			S1 motif.			Missense_Mutation	SNP	ENST00000256383.4	37	c.135G>A	CCDS9781.1	.	.	.	.	.	.	.	.	.	.	G	35	5.428779	0.96131	.	.	ENSG00000134001	ENST00000256383;ENST00000437108;ENST00000557310;ENST00000466499	T;T;T	0.41400	1.0;1.0;1.0	5.75	5.75	0.90469	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.70072	0.3182	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73433	-0.3984	10	0.87932	D	0	-19.3607	19.9449	0.97179	0.0:0.0:1.0:0.0	.	45	P05198	IF2A_HUMAN	I	45	ENSP00000256383:M45I;ENSP00000451975:M45I;ENSP00000425299:M45I	ENSP00000256383:M45I	M	+	3	0	EIF2S1	66901372	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.696000	0.92011	0.655000	0.94253	ATG		0.428	EIF2S1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074342.3	NM_004094		36	202	0	0	0	1	0	36	202				
ZNF106	64397	broad.mit.edu	37	15	42729429	42729429	+	Splice_Site	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr15:42729429C>T	ENST00000263805.4	-	10	5004		c.e10+1		ZNF106_ENST00000565611.1_Splice_Site|ZNF106_ENST00000565380.1_Splice_Site	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106						insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TATCAACTTACCACCAGATTA	0.368																																						ENST00000263805.4																			0											c.e10+1		zinc finger protein 106							104.0	103.0	104.0					15																	42729429		2203	4299	6502	SO:0001630	splice_region_variant	64397							g.chr15:42729429C>T	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.4677+1G>A	15.37:g.42729429C>T						ZNF106_ENST00000565611.1_Splice_Site|ZNF106_ENST00000565380.1_Splice_Site		NM_022473.1	NP_071918.1					10	5004	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Splice_Site	SNP	ENST00000263805.4	37		CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266083	0.80358	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3733	0.90420	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZFP106	40516721	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.137000	0.77295	2.590000	0.87494	0.462000	0.41574	.		0.368	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473	Intron	29	67	0	0	0	1	0	29	67				
DSCC1	79075	broad.mit.edu	37	8	120847202	120847202	+	Silent	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr8:120847202G>A	ENST00000313655.4	-	9	1327	c.1113C>T	c.(1111-1113)ctC>ctT	p.L371L	TAF2_ENST00000378164.2_5'Flank	NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	371					DNA replication (GO:0006260)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATATTTAGTGAGTAATGCAC	0.318																																						ENST00000313655.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9						c.(1111-1113)ctC>ctT		DNA replication and sister chromatid cohesion 1							87.0	90.0	89.0					8																	120847202		2203	4299	6502	SO:0001819	synonymous_variant	79075				DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding	g.chr8:120847202G>A		CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982			24453	protein-coding gene	gene with protein product	"""defective in sister chromatid cohesion homolog 1 (S. cerevisiae)"""	613203	"""defective in sister chromatid cohesion 1 homolog (S. cerevisiae)"""			12766176, 20826785	Standard	NM_024094		Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.1113C>T	8.37:g.120847202G>A							p.L371L	NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		9	1327	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		371					Q969N5	Silent	SNP	ENST00000313655.4	37	c.1113C>T	CCDS6330.1																																																																																				0.318	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	NM_024094		15	36	0	0	0	1	0	15	36				
PLEKHG4	25894	broad.mit.edu	37	16	67315487	67315487	+	Silent	SNP	C	C	T	rs145774796		TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr16:67315487C>T	ENST00000360461.5	+	5	3366	c.831C>T	c.(829-831)gcC>gcT	p.A277A	PLEKHG4_ENST00000379344.3_Silent_p.A277A|PLEKHG4_ENST00000427155.2_Silent_p.A277A|PLEKHG4_ENST00000450733.1_Silent_p.A196A	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	277							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CCCCAGGGGCCGTGTACCAGG	0.602																																						ENST00000360461.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(829-831)gcC>gcT		pleckstrin homology domain containing, family G (with RhoGef domain) member 4		C	,,,,	1,4395	2.1+/-5.4	0,1,2197	52.0	43.0	46.0		831,831,831,588,831	-10.8	0.0	16	dbSNP_134	46	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEKHG4	NM_001129727.1,NM_001129728.1,NM_001129729.1,NM_001129731.1,NM_015432.3	,,,,	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	,,,,	277/1192,277/1192,277/1192,196/1111,277/1192	67315487	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67315487C>T	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.831C>T	16.37:g.67315487C>T						PLEKHG4_ENST00000379344.3_Silent_p.A277A|PLEKHG4_ENST00000450733.1_Silent_p.A196A|PLEKHG4_ENST00000427155.2_Silent_p.A277A	p.A277A	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	5	3366	+			277					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Silent	SNP	ENST00000360461.5	37	c.831C>T	CCDS32466.1																																																																																				0.602	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		16	18	0	0	0	1	0	16	18				
DCBLD2	131566	broad.mit.edu	37	3	98538221	98538221	+	Silent	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr3:98538221C>T	ENST00000326840.6	-	8	1274	c.912G>A	c.(910-912)gcG>gcA	p.A304A	DCBLD2_ENST00000326857.9_Silent_p.A304A|DCBLD2_ENST00000469648.1_5'Flank	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	304	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TTTGAGGATCCGCGATCACAC	0.443																																						ENST00000326840.6																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						c.(910-912)gcG>gcA		discoidin, CUB and LCCL domain containing 2							98.0	85.0	89.0					3																	98538221		1929	4137	6066	SO:0001819	synonymous_variant	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98538221C>T		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.912G>A	3.37:g.98538221C>T						DCBLD2_ENST00000326857.9_Silent_p.A304A	p.A304A	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN			8	1274	-			304			F5/8 type C.		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Silent	SNP	ENST00000326840.6	37	c.912G>A	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	C	7.623	0.677153	0.14841	.	.	ENSG00000057019	ENST00000404023	.	.	.	5.25	-10.5	0.00291	.	.	.	.	.	T	0.42743	0.1216	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54622	-0.8266	5	0.37606	T	0.19	-21.9123	2.7192	0.05196	0.5856:0.1464:0.124:0.144	.	.	.	.	R	259	.	ENSP00000385656:G259R	G	-	1	0	DCBLD2	100020911	0.000000	0.05858	0.014000	0.15608	0.914000	0.54420	-2.728000	0.00807	-2.939000	0.00298	-1.335000	0.01260	GGA		0.443	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		11	73	0	0	0	1	0	11	73				
ADAMDEC1	27299	broad.mit.edu	37	8	24254856	24254856	+	Missense_Mutation	SNP	G	G	A	rs200134300	byFrequency	TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr8:24254856G>A	ENST00000256412.4	+	6	734	c.514G>A	c.(514-516)Gtc>Atc	p.V172I	ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.V93I|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.V93I|RP11-624C23.1_ENST00000519689.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	172					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGAACATGCCGTCTTTACATC	0.433																																					Ovarian(147;687 1849 3699 25981 31337)	ENST00000538205.1																			0				NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9						c.(277-279)Gtc>Atc		ADAM-like, decysin 1		G	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	201.0	193.0	195.0		277,277,514	-6.1	0.0	8		195	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ADAMDEC1	NM_001145271.1,NM_001145272.1,NM_014479.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	93/392,93/392,172/471	24254856	1,13005	2203	4300	6503	SO:0001583	missense	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24254856G>A	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.514G>A	8.37:g.24254856G>A	ENSP00000256412:p.Val172Ile					ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.V93I|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.V172I|RP11-624C23.1_ENST00000523578.1_RNA	p.V93I	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	7	824	+		Prostate(55;0.0181)	172					B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	c.277G>A	CCDS6044.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	8.346	0.829760	0.16749	0.0	1.16E-4	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.05382	3.45;3.45;3.45	5.53	-6.09	0.02145	Peptidase M12B, propeptide (1);	0.921580	0.09137	N	0.843523	T	0.02727	0.0082	N	0.16790	0.44	0.09310	N	1	P	0.39920	0.695	B	0.33392	0.163	T	0.34204	-0.9838	10	0.02654	T	1	-6.337	13.4799	0.61330	0.5931:0.0:0.4069:0.0	.	172	O15204	ADEC1_HUMAN	I	172;93;93	ENSP00000256412:V172I;ENSP00000442592:V93I;ENSP00000428993:V93I	ENSP00000256412:V172I	V	+	1	0	ADAMDEC1	24310801	0.001000	0.12720	0.001000	0.08648	0.057000	0.15508	-0.184000	0.09698	-0.991000	0.03476	-0.350000	0.07774	GTC		0.433	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		76	168	0	0	0	1	0	76	168				
FCRLA	84824	broad.mit.edu	37	1	161680622	161680622	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr1:161680622A>G	ENST00000236938.6	+	2	445	c.203A>G	c.(202-204)gAc>gGc	p.D68G	FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000367959.2_Missense_Mutation_p.D74G|FCRLA_ENST00000546024.1_Missense_Mutation_p.D68G|FCRLA_ENST00000367949.2_Missense_Mutation_p.D68G|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540926.1_Missense_Mutation_p.D57G|FCRLA_ENST00000349527.4_Missense_Mutation_p.D51G|FCRLA_ENST00000309691.6_Missense_Mutation_p.D51G|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367953.3_Missense_Mutation_p.D57G|FCRLA_ENST00000367950.1_Missense_Mutation_p.D28G|FCRLA_ENST00000367957.2_Intron	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	51					cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ACGGAGGATGACTTGACTGAT	0.572																																						ENST00000540926.1																			0				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34						c.(169-171)gAc>gGc		Fc receptor-like A							113.0	85.0	94.0					1																	161680622		2203	4300	6503	SO:0001583	missense	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161680622A>G	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.203A>G	1.37:g.161680622A>G	ENSP00000236938:p.Asp68Gly					FCRLA_ENST00000367953.3_Missense_Mutation_p.D57G|FCRLA_ENST00000236938.6_Missense_Mutation_p.D68G|FCRLA_ENST00000309691.6_Missense_Mutation_p.D51G|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000546024.1_Missense_Mutation_p.D68G|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000367949.2_Missense_Mutation_p.D68G|FCRLA_ENST00000367950.1_Missense_Mutation_p.D28G|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000349527.4_Missense_Mutation_p.D51G|FCRLA_ENST00000367959.2_Missense_Mutation_p.D74G|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron	p.D57G			Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		3	463	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		51					A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	c.170A>G	CCDS30926.1	.	.	.	.	.	.	.	.	.	.	A	11.23	1.578547	0.28180	.	.	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000367949;ENST00000540926;ENST00000349527;ENST00000309691;ENST00000367953;ENST00000367950	T;T;T;T;T;T;T;T;T	0.62941	5.65;5.65;3.74;-0.01;5.66;3.79;3.84;5.66;0.09	4.01	1.39	0.22231	.	1.117940	0.06774	N	0.784047	T	0.63414	0.2509	M	0.61703	1.905	0.09310	N	1	P;P;D;D	0.89917	0.872;0.573;1.0;0.998	P;B;D;D	0.83275	0.476;0.165;0.996;0.937	T	0.47071	-0.9145	10	0.54805	T	0.06	.	7.707	0.28657	0.5677:0.4323:0.0:0.0	.	68;68;74;68	A6NL20;G3V1J2;A6NC03;Q7L513-9	.;.;.;.	G	68;74;68;68;57;51;51;57;28	ENSP00000236938:D68G;ENSP00000356936:D74G;ENSP00000439838:D68G;ENSP00000356926:D68G;ENSP00000446380:D57G;ENSP00000294798:D51G;ENSP00000309596:D51G;ENSP00000356930:D57G;ENSP00000356927:D28G	ENSP00000236938:D68G	D	+	2	0	FCRLA	159947246	0.000000	0.05858	0.027000	0.17364	0.023000	0.10783	0.387000	0.20718	0.669000	0.31146	0.533000	0.62120	GAC		0.572	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		28	38	0	0	0	1	0	28	38				
NKD1	85407	broad.mit.edu	37	16	50667411	50667411	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr16:50667411G>C	ENST00000268459.3	+	10	1356	c.1132G>C	c.(1132-1134)Gtg>Ctg	p.V378L		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	378					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CATCCCTGCGGTGTCCCCCTC	0.692																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(1132-1134)Gtg>Ctg		naked cuticle homolog 1 (Drosophila)							13.0	18.0	16.0					16																	50667411		2193	4293	6486	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50667411G>C	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.1132G>C	16.37:g.50667411G>C	ENSP00000268459:p.Val378Leu						p.V378L	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	10	1356	+		all_cancers(37;0.229)	378					B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.1132G>C	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	G	6.676	0.493361	0.12702	.	.	ENSG00000140807	ENST00000268459	T	0.63096	-0.02	4.05	4.05	0.47172	.	0.905741	0.09288	N	0.822773	T	0.53883	0.1824	L	0.44542	1.39	0.19300	N	0.999974	B	0.10296	0.003	B	0.06405	0.002	T	0.35549	-0.9784	10	0.10111	T	0.7	-5.5643	14.5612	0.68136	0.0:0.0:1.0:0.0	.	378	Q969G9	NKD1_HUMAN	L	378	ENSP00000268459:V378L	ENSP00000268459:V378L	V	+	1	0	NKD1	49224912	0.996000	0.38824	0.533000	0.28001	0.454000	0.32378	3.316000	0.51960	2.092000	0.63282	0.305000	0.20034	GTG		0.692	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			4	24	0	0	0	1	0	4	24				
CT47B1	643311	broad.mit.edu	37	X	120009317	120009317	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chrX:120009317C>T	ENST00000371311.3	-	1	462	c.208G>A	c.(208-210)Gca>Aca	p.A70T		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	70										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCCAGGCCTGCCGCCTGCTCA	0.726																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(208-210)Gca>Aca		cancer/testis antigen family 47, member B1							8.0	12.0	10.0					X																	120009317		684	1544	2228	SO:0001583	missense	643311							g.chrX:120009317C>T		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.208G>A	X.37:g.120009317C>T	ENSP00000360360:p.Ala70Thr						p.A70T	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	462	-			70					A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	c.208G>A	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722388	0.48728	.	.	ENSG00000236446	ENST00000371311	.	.	.	2.34	-4.68	0.03309	.	1.885900	0.03685	U	0.246182	T	0.39963	0.1098	L	0.29908	0.895	0.09310	N	1	D	0.60575	0.988	D	0.73708	0.981	T	0.44574	-0.9319	9	0.62326	D	0.03	.	1.0776	0.01636	0.3023:0.2078:0.3458:0.144	.	70	P0C2W7	CT47B_HUMAN	T	70	.	ENSP00000360360:A70T	A	-	1	0	CT47B1	119893345	0.001000	0.12720	0.000000	0.03702	0.191000	0.23601	0.743000	0.26231	-1.626000	0.01552	0.171000	0.16805	GCA		0.726	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		6	33	0	0	0	1	0	6	33				
GMFB	2764	broad.mit.edu	37	14	54948136	54948136	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr14:54948136C>T	ENST00000358056.3	-	4	459	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	GMFB_ENST00000554908.1_3'UTR|GMFB_ENST00000553566.1_5'UTR	NM_004124.2	NP_004115.1	P60983	GMFB_HUMAN	glia maturation factor, beta	64	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of protein kinase activity (GO:0006469)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)	8						TCGAGGTTGTCGTTCAGGTAG	0.353																																						ENST00000358056.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)	8						c.(190-192)cGa>cAa		glia maturation factor, beta							119.0	114.0	115.0					14																	54948136		2203	4300	6503	SO:0001583	missense	2764				nervous system development|protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity	g.chr14:54948136C>T	M86492	CCDS9718.1	14q22.2	2010-07-06			ENSG00000197045	ENSG00000197045			4373	protein-coding gene	gene with protein product		601713				1712830	Standard	NM_004124		Approved	GMF	uc021rtf.1	P60983	OTTHUMG00000140307	ENST00000358056.3:c.191G>A	14.37:g.54948136C>T	ENSP00000350757:p.Arg64Gln					GMFB_ENST00000553566.1_5'UTR|GMFB_ENST00000554908.1_3'UTR	p.R64Q	NM_004124.2	NP_004115.1	P60983	GMFB_HUMAN			4	459	-			64			ADF-H.		B2R499|P17774|Q9BS35	Missense_Mutation	SNP	ENST00000358056.3	37	c.191G>A	CCDS9718.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560664	0.65538	.	.	ENSG00000197045	ENST00000358056;ENST00000354747;ENST00000553333	T;T	0.29397	1.57;1.57	5.67	5.67	0.87782	Actin-binding, cofilin/tropomyosin type (3);	0.057221	0.64402	D	0.000003	T	0.30823	0.0777	L	0.45228	1.405	0.80722	D	1	B	0.15141	0.012	B	0.16722	0.016	T	0.04708	-1.0932	10	0.23891	T	0.37	.	19.7722	0.96370	0.0:1.0:0.0:0.0	.	64	P60983	GMFB_HUMAN	Q	64;64;76	ENSP00000350757:R64Q;ENSP00000451920:R76Q	ENSP00000346789:R64Q	R	-	2	0	GMFB	54017886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.267000	0.78462	2.672000	0.90937	0.585000	0.79938	CGA		0.353	GMFB-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276903.2	NM_004124		6	41	0	0	0	1	0	6	41				
OR51I2	390064	broad.mit.edu	37	11	5474874	5474874	+	Silent	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr11:5474874G>A	ENST00000341449.2	+	1	237	c.156G>A	c.(154-156)gaG>gaA	p.E52E	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	52					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCGAGTGGAGCCCAGCCTCC	0.572																																						ENST00000341449.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29						c.(154-156)gaG>gaA		olfactory receptor, family 51, subfamily I, member 2							107.0	94.0	98.0					11																	5474874		2201	4297	6498	SO:0001819	synonymous_variant	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5474874G>A	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.156G>A	11.37:g.5474874G>A						HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.E52E	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	237	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	52					Q6IF81	Silent	SNP	ENST00000341449.2	37	c.156G>A	CCDS31383.1																																																																																				0.572	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		42	20	0	0	0	1	0	42	20				
RIN3	79890	broad.mit.edu	37	14	93043785	93043785	+	Silent	SNP	C	C	T	rs369321952		TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr14:93043785C>T	ENST00000216487.7	+	3	489	c.330C>T	c.(328-330)gcC>gcT	p.A110A	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	110	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AAAGCTCGGCCGAGGTGCTCG	0.527																																						ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(328-330)gcC>gcT		Ras and Rab interactor 3		C		0,4406		0,0,2203	115.0	111.0	113.0		330	-8.0	0.0	14		113	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	RIN3	NM_024832.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		110/986	93043785	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93043785C>T	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.330C>T	14.37:g.93043785C>T						RIN3_ENST00000418924.2_3'UTR	p.A110A	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			3	489	+		all_cancers(154;0.0701)	110			SH2.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	c.330C>T	CCDS32144.1																																																																																				0.527	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			26	217	0	0	0	1	0	26	217				
SPRY3	10251	broad.mit.edu	37	X	155004050	155004050	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chrX:155004050C>T	ENST00000302805.2	+	2	948	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	173	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTGCAACCAGCGCTGCCTTTG	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20707	0.0		0.0	False		,,,				2504	0.0					ENST00000302805.2																			0											c.(517-519)Cgc>Tgc		sprouty homolog 3 (Drosophila)							162.0	158.0	159.0					X																	155004050		2203	4296	6499	SO:0001583	missense	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155004050C>T	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.517C>T	X.37:g.155004050C>T	ENSP00000302978:p.Arg173Cys						p.R173C	NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN			2	948	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		173			Cys-rich.|SPR.		A8K0H8	Missense_Mutation	SNP	ENST00000302805.2	37	c.517C>T	CCDS14769.4	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711107	0.48517	.	.	ENSG00000168939	ENST00000302805	T	0.64803	-0.12	2.71	2.71	0.32032	.	0.000000	0.85682	D	0.000000	T	0.72350	0.3449	.	.	.	0.18873	N	0.999989	D	0.89917	1.0	D	0.73708	0.981	T	0.60209	-0.7308	9	0.72032	D	0.01	-7.9621	6.45	0.21898	0.2896:0.7104:0.0:0.0	.	173	O43610	SPY3_HUMAN	C	173	ENSP00000302978:R173C	ENSP00000302978:R173C	R	+	1	0	SPRY3	154657244	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.341000	0.52151	1.366000	0.46076	0.279000	0.19357	CGC		0.582	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		15	180	0	0	0	1	0	15	180				
PLCL1	5334	broad.mit.edu	37	2	198949350	198949350	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr2:198949350G>A	ENST00000428675.1	+	2	1507	c.1109G>A	c.(1108-1110)gGg>gAg	p.G370E	PLCL1_ENST00000437704.2_Missense_Mutation_p.G272E	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	370					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CGTCAAAAAGGGTTTCTTGCA	0.413																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1108-1110)gGg>gAg		phospholipase C-like 1	Quinacrine(DB01103)						120.0	111.0	114.0					2																	198949350		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949350G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1109G>A	2.37:g.198949350G>A	ENSP00000402861:p.Gly370Glu					PLCL1_ENST00000437704.2_Missense_Mutation_p.G272E	p.G370E	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	1507	+			370					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1109G>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649967	0.67472	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.52754	0.65;0.65	5.94	5.94	0.96194	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.68751	0.3035	M	0.68952	2.095	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.72338	0.977;0.959	T	0.64820	-0.6317	9	.	.	.	.	20.3632	0.98871	0.0:0.0:1.0:0.0	.	370;296	Q15111;B4DYZ4	PLCL1_HUMAN;.	E	370;272	ENSP00000402861:G370E;ENSP00000414138:G272E	.	G	+	2	0	PLCL1	198657595	1.000000	0.71417	0.996000	0.52242	0.907000	0.53573	9.855000	0.99526	2.826000	0.97356	0.561000	0.74099	GGG		0.413	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		8	153	0	0	0	1	0	8	153				
SDK2	54549	broad.mit.edu	37	17	71389822	71389822	+	Missense_Mutation	SNP	G	G	A	rs147343958		TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr17:71389822G>A	ENST00000392650.3	-	27	3775	c.3775C>T	c.(3775-3777)Cgc>Tgc	p.R1259C	SDK2_ENST00000388726.3_Missense_Mutation_p.R1259C	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1259	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGGCACTGCGAGACGAGTTG	0.627																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(3775-3777)Cgc>Tgc		sidekick cell adhesion molecule 2		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	71.0	62.0	65.0		3775	5.4	0.9	17	dbSNP_134	65	0,8600		0,0,4300	no	missense	SDK2	NM_001144952.1	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	1259/2173	71389822	1,13005	2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71389822G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3775C>T	17.37:g.71389822G>A	ENSP00000376421:p.Arg1259Cys					SDK2_ENST00000388726.3_Missense_Mutation_p.R1259C	p.R1259C	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			27	3775	-			1259			Fibronectin type-III 7.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.3775C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467215	0.84533	2.27E-4	0.0	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.55052	0.54;0.54;0.54	5.37	5.37	0.77165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.174716	0.51477	D	0.000087	T	0.66167	0.2762	M	0.79614	2.46	0.80722	D	1	P;D;P	0.64830	0.95;0.994;0.951	P;P;P	0.51453	0.663;0.67;0.54	T	0.67565	-0.5638	10	0.38643	T	0.18	.	19.1083	0.93305	0.0:0.0:1.0:0.0	.	1259;1259;1259	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	C	883;1259;1259;435;1259	ENSP00000376421:R1259C;ENSP00000373378:R1259C;ENSP00000407098:R435C	ENSP00000324967:R1259C	R	-	1	0	SDK2	68901417	1.000000	0.71417	0.945000	0.38365	0.920000	0.55202	9.264000	0.95635	2.514000	0.84764	0.563000	0.77884	CGC		0.627	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		9	42	0	0	0	1	0	9	42				
BRF1	2972	broad.mit.edu	37	14	105707730	105707730	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr14:105707730C>T	ENST00000546474.1	-	6	15525	c.566G>A	c.(565-567)cGc>cAc	p.R189H	BRF1_ENST00000551787.1_5'UTR|BRF1_ENST00000379937.2_Missense_Mutation_p.R162H|BRF1_ENST00000392557.4_5'UTR|BRF1_ENST00000446501.2_Intron|BRF1_ENST00000327359.3_Missense_Mutation_p.R74H|BRF1_ENST00000379932.4_5'UTR|BRF1_ENST00000440513.3_Missense_Mutation_p.R74H	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	189					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GTGCGCAAAGCGTGGAATATA	0.627																																						ENST00000546474.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(565-567)cGc>cAc		BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit							93.0	76.0	82.0					14																	105707730		2200	4300	6500	SO:0001583	missense	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105707730C>T	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.566G>A	14.37:g.105707730C>T	ENSP00000448323:p.Arg189His					BRF1_ENST00000379932.4_5'UTR|BRF1_ENST00000446501.2_Intron|BRF1_ENST00000392557.4_5'UTR|BRF1_ENST00000440513.3_Missense_Mutation_p.R74H|BRF1_ENST00000327359.3_Missense_Mutation_p.R74H|BRF1_ENST00000379937.2_Missense_Mutation_p.R162H|BRF1_ENST00000551787.1_5'UTR	p.R189H	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	6	15525	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	189					B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	ENST00000546474.1	37	c.566G>A	CCDS10001.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.655989	0.67586	.	.	ENSG00000185024	ENST00000379937;ENST00000546474;ENST00000327359;ENST00000440513	.	.	.	4.51	4.51	0.55191	Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.80701	0.4673	M	0.86573	2.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.82068	-0.0640	9	0.38643	T	0.18	.	15.0683	0.72014	0.0:1.0:0.0:0.0	.	74;162;189	F5H5Z7;Q92994-5;Q92994	.;.;TF3B_HUMAN	H	162;189;74;74	.	ENSP00000329029:R74H	R	-	2	0	BRF1	104778775	1.000000	0.71417	0.948000	0.38648	0.115000	0.19883	7.254000	0.78329	2.220000	0.72140	0.591000	0.81541	CGC		0.627	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		23	19	0	0	0	1	0	23	19				
TEX13B	56156	broad.mit.edu	37	X	107225292	107225292	+	Silent	SNP	G	G	A	rs548824099		TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chrX:107225292G>A	ENST00000302917.1	-	2	158	c.66C>T	c.(64-66)atC>atT	p.I22I		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	22										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CCATTTTCTCGATGATGAAGG	0.562																																						ENST00000302917.1																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(64-66)atC>atT		testis expressed 13B							93.0	81.0	85.0					X																	107225292		2199	4300	6499	SO:0001819	synonymous_variant	56156							g.chrX:107225292G>A	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.66C>T	X.37:g.107225292G>A							p.I22I	NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN			2	158	-			22					Q5JYF6	Silent	SNP	ENST00000302917.1	37	c.66C>T	CCDS14534.1																																																																																				0.562	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			7	55	0	0	0	1	0	7	55				
CACNG8	59283	broad.mit.edu	37	19	54483236	54483236	+	Silent	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr19:54483236C>T	ENST00000270458.2	+	3	586	c.483C>T	c.(481-483)ggC>ggT	p.G161G	MIR935_ENST00000401179.1_RNA	NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	161					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		TCATTCTGGGCGCAGGGATCC	0.657																																						ENST00000270458.2																			0				kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13						c.(481-483)ggC>ggT		calcium channel, voltage-dependent, gamma subunit 8							35.0	36.0	36.0					19																	54483236		2202	4299	6501	SO:0001819	synonymous_variant	59283				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54483236C>T	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.483C>T	19.37:g.54483236C>T							p.G161G	NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN		GBM - Glioblastoma multiforme(134;0.162)	3	586	+	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		161					Q9BXT0|Q9BY23	Silent	SNP	ENST00000270458.2	37	c.483C>T	CCDS33104.1																																																																																				0.657	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3			4	20	0	0	0	1	0	4	20				
DNAH5	1767	broad.mit.edu	37	5	13864593	13864593	+	Silent	SNP	G	G	A	rs138157585	byFrequency	TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr5:13864593G>A	ENST00000265104.4	-	28	4613	c.4509C>T	c.(4507-4509)acC>acT	p.T1503T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1503	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACTGTGCCCGGTGAGGGTGG	0.458									Kartagener syndrome				G|||	3	0.000599042	0.0	0.0	5008	,	,		18445	0.0		0.003	False		,,,				2504	0.0					ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(4507-4509)acC>acT		dynein, axonemal, heavy chain 5		G		0,4406		0,0,2203	64.0	64.0	64.0		4509	-3.8	0.7	5	dbSNP_134	64	16,8584	11.9+/-42.8	0,16,4284	no	coding-synonymous	DNAH5	NM_001369.2		0,16,6487	AA,AG,GG		0.186,0.0,0.123		1503/4625	13864593	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13864593G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4509C>T	5.37:g.13864593G>A						CTB-51A17.1_ENST00000503244.1_RNA	p.T1503T	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			28	4613	-	Lung NSC(4;0.00476)		1503			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.4509C>T	CCDS3882.1																																																																																				0.458	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		24	41	0	0	0	1	0	24	41				
RNF113A	7737	broad.mit.edu	37	X	119005206	119005206	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chrX:119005206G>A	ENST00000371442.2	-	1	585	c.371C>T	c.(370-372)aCa>aTa	p.T124I	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	124							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CTCTTTCTCTGTGTCCAGCTC	0.552																																						ENST00000371442.2																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						c.(370-372)aCa>aTa		ring finger protein 113A							241.0	230.0	234.0					X																	119005206		2203	4300	6503	SO:0001583	missense	7737						nucleic acid binding|zinc ion binding	g.chrX:119005206G>A	X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"""RING-type (C3HC4) zinc fingers"""	12974	protein-coding gene	gene with protein product			"""zinc finger protein 183 (RING finger, C3HC4 type)"""	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.371C>T	X.37:g.119005206G>A	ENSP00000360497:p.Thr124Ile						p.T124I	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN			1	585	-			124					B2RBR7	Missense_Mutation	SNP	ENST00000371442.2	37	c.371C>T	CCDS14589.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618283	0.87359	.	.	ENSG00000125352	ENST00000371442	T	0.36520	1.25	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	M	0.91561	3.22	0.80722	D	1	P	0.52577	0.954	P	0.53224	0.721	T	0.72027	-0.4414	10	0.87932	D	0	-2.0068	15.7553	0.78018	0.0:0.0:1.0:0.0	.	124	O15541	R113A_HUMAN	I	124	ENSP00000360497:T124I	ENSP00000360497:T124I	T	-	2	0	RNF113A	118889234	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.416000	0.97383	2.318000	0.78349	0.600000	0.82982	ACA		0.552	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058071.1	NM_006978		11	316	0	0	0	1	0	11	316				
COL5A2	1290	broad.mit.edu	37	2	189932828	189932828	+	Silent	SNP	A	A	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr2:189932828A>T	ENST00000374866.3	-	21	1588	c.1314T>A	c.(1312-1314)ggT>ggA	p.G438G		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	438					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GACCAGAGGTACCTGGAGAGC	0.532																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(1312-1314)ggT>ggA		collagen, type V, alpha 2							78.0	79.0	79.0					2																	189932828		2203	4300	6503	SO:0001819	synonymous_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189932828A>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1314T>A	2.37:g.189932828A>T							p.G438G	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		21	1588	-			438					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	ENST00000374866.3	37	c.1314T>A	CCDS33350.1																																																																																				0.532	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		49	50	0	0	0	1	0	49	50				
ARMCX5	64860	broad.mit.edu	37	X	101858254	101858254	+	Silent	SNP	A	A	G	rs148467545		TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chrX:101858254A>G	ENST00000604957.1	+	1	3807	c.1185A>G	c.(1183-1185)caA>caG	p.Q395Q	ARMCX5_ENST00000246174.2_Silent_p.Q395Q|ARMCX5_ENST00000537008.1_Silent_p.Q395Q|ARMCX5_ENST00000372742.1_Silent_p.Q395Q|ARMCX5_ENST00000541409.1_Silent_p.Q395Q|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000536530.1_Silent_p.Q395Q|RP4-769N13.7_ENST00000602441.1_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	395										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						ATATACATCAAGTTTGTAAAG	0.418																																						ENST00000604957.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(1183-1185)caA>caG		armadillo repeat containing, X-linked 5		A	,,,,,,	0,3835		0,0,1632,571	59.0	58.0	59.0		1185,1185,1185,1185,1185,,1185	1.4	0.5	X	dbSNP_134	59	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	ARMCX5,ARMCX5-GPRASP2	NM_001168478.1,NM_001168479.1,NM_001168480.1,NM_001168482.1,NM_001168485.1,NM_001199818.1,NM_022838.3	,,,,,,	0,1,4059,2443	GG,GA,AA,A		0.0149,0.0,0.0095	,,,,,,	395/559,395/559,395/559,395/559,395/559,,395/559	101858254	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	64860						binding	g.chrX:101858254A>G		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.1185A>G	X.37:g.101858254A>G						ARMCX5_ENST00000541409.1_Silent_p.Q395Q|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000537008.1_Silent_p.Q395Q|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000246174.2_Silent_p.Q395Q|ARMCX5_ENST00000536530.1_Silent_p.Q395Q|ARMCX5_ENST00000372742.1_Silent_p.Q395Q	p.Q395Q	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN			1	3807	+			395					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Silent	SNP	ENST00000604957.1	37	c.1185A>G	CCDS14500.1																																																																																				0.418	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		4	66	0	0	0	1	0	4	66				
MTIF3	219402	broad.mit.edu	37	13	28008981	28008981	+	IGR	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr13:28008981G>A	ENST00000381116.1	-	0	1104				GTF3A_ENST00000381140.4_Missense_Mutation_p.R228H|MTIF3_ENST00000461838.1_5'Flank|GTF3A_ENST00000470606.1_3'UTR			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3						formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		ACATTTAAACGCAAAGATTAC	0.388																																						ENST00000381140.4																			0				breast(1)|lung(1)	2						c.(682-684)cGc>cAc		general transcription factor IIIA							88.0	75.0	79.0					13																	28008981		1568	3582	5150	SO:0001628	intergenic_variant	2971				regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr13:28008981G>A	BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633		13.37:g.28008981G>A						GTF3A_ENST00000470606.1_3'UTR	p.R228H	NM_002097.2	NP_002088.2	Q92664	TF3A_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)	7	877	+		Lung SC(185;0.0156)	228					Q05BL8|Q5W0V0|Q86X68	Missense_Mutation	SNP	ENST00000381116.1	37	c.683G>A	CCDS9322.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.479169	0.63849	.	.	ENSG00000122034	ENST00000381140	T	0.56941	0.43	5.43	4.59	0.56863	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.281464	0.44902	N	0.000405	T	0.57257	0.2041	L	0.28192	0.835	0.36670	D	0.878447	B;D	0.89917	0.078;1.0	B;D	0.91635	0.023;0.999	T	0.65932	-0.6048	9	0.41790	T	0.15	-27.5452	10.5337	0.44992	0.1489:0.0:0.8511:0.0	.	203;228	Q92664-2;Q92664	.;TF3A_HUMAN	H	228	ENSP00000370532:R228H	ENSP00000370532:R228H	R	+	2	0	GTF3A	26906981	1.000000	0.71417	0.989000	0.46669	0.973000	0.67179	5.679000	0.68160	1.288000	0.44600	-0.300000	0.09419	CGC		0.388	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044300.1	NM_152912		3	37	0	0	0	1	0	3	37				
IGSF1	3547	broad.mit.edu	37	X	130410972	130410972	+	Missense_Mutation	SNP	C	C	T	rs374589007		TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chrX:130410972C>T	ENST00000361420.3	-	14	2628	c.2549G>A	c.(2548-2550)cGa>cAa	p.R850Q	IGSF1_ENST00000370910.1_Missense_Mutation_p.R841Q|IGSF1_ENST00000370904.1_Missense_Mutation_p.R841Q|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Missense_Mutation_p.R855Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	850	Ig-like C2-type 8.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTCATAATATCGGCAGCTGTA	0.557																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(2521-2523)cGa>cAa		immunoglobulin superfamily, member 1							158.0	160.0	159.0					X																	130410972		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130410972C>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2549G>A	X.37:g.130410972C>T	ENSP00000355010:p.Arg850Gln					IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Missense_Mutation_p.R855Q|IGSF1_ENST00000370910.1_Missense_Mutation_p.R841Q|IGSF1_ENST00000361420.3_Missense_Mutation_p.R850Q	p.R841Q			Q8N6C5	IGSF1_HUMAN			20	3432	-			850			Ig-like C2-type 8.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.2522G>A	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030594	0.54790	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	5.39	5.39	0.77823	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.292022	0.29987	N	0.010699	T	0.24160	0.0585	N	0.25332	0.735	0.30239	N	0.795211	D;D;D	0.89917	0.957;1.0;0.999	P;D;D	0.77557	0.613;0.99;0.986	T	0.02991	-1.1085	10	0.45353	T	0.12	.	13.7059	0.62639	0.0:1.0:0.0:0.0	.	841;294;850	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	Q	841;850;841;855	ENSP00000359947:R841Q;ENSP00000355010:R850Q;ENSP00000359941:R841Q;ENSP00000359940:R855Q	ENSP00000355010:R850Q	R	-	2	0	IGSF1	130238653	0.998000	0.40836	1.000000	0.80357	0.657000	0.38888	1.489000	0.35562	2.393000	0.81446	0.600000	0.82982	CGA		0.557	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			34	204	0	0	0	1	0	34	204				
MAGI3	260425	broad.mit.edu	37	1	114193780	114193780	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr1:114193780C>T	ENST00000307546.9	+	14	2467	c.2392C>T	c.(2392-2394)Cga>Tga	p.R798*	MAGI3_ENST00000369615.1_Nonsense_Mutation_p.R798*|MAGI3_ENST00000369611.4_Nonsense_Mutation_p.R798*|MAGI3_ENST00000369617.4_Nonsense_Mutation_p.R823*	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	823	Interaction with BAI1.|PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACTGCTGCTCGAAATGGCCA	0.428																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(2392-2394)Cga>Tga		membrane associated guanylate kinase, WW and PDZ domain containing 3							133.0	122.0	126.0					1																	114193780		2203	4300	6503	SO:0001587	stop_gained	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114193780C>T	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2392C>T	1.37:g.114193780C>T	ENSP00000304604:p.Arg798*					MAGI3_ENST00000369611.4_Nonsense_Mutation_p.R798*|MAGI3_ENST00000307546.9_Nonsense_Mutation_p.R798*|MAGI3_ENST00000369617.4_Nonsense_Mutation_p.R823*	p.R798*	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	14	2454	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	823			Interaction with BAI1.|PDZ 4.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Nonsense_Mutation	SNP	ENST00000307546.9	37	c.2392C>T	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	C	42	9.172670	0.99089	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	.	.	.	5.74	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5788	16.1002	0.81166	0.1351:0.8649:0.0:0.0	.	.	.	.	X	823;798;798;798	.	ENSP00000304604:R798X	R	+	1	2	MAGI3	113995303	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.710000	0.68392	1.408000	0.46895	-0.181000	0.13052	CGA		0.428	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		9	56	0	0	0	1	0	9	56				
SLC16A9	220963	broad.mit.edu	37	10	61412622	61412622	+	Silent	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr10:61412622G>A	ENST00000395348.3	-	6	2074	c.1438C>T	c.(1438-1440)Ctg>Ttg	p.L480L	SLC16A9_ENST00000395347.1_Silent_p.L480L	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	480					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						AAGGCTGCCAGCAGCAGAATA	0.443																																						ENST00000395348.3																			0				kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						c.(1438-1440)Ctg>Ttg		solute carrier family 16, member 9							77.0	82.0	80.0					10																	61412622		2203	4300	6503	SO:0001819	synonymous_variant	220963				urate metabolic process	integral to membrane|plasma membrane	symporter activity	g.chr10:61412622G>A	AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.1438C>T	10.37:g.61412622G>A						SLC16A9_ENST00000395347.1_Silent_p.L480L	p.L480L	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN			6	2074	-			480					Q6ZMI2|Q9UFH8	Silent	SNP	ENST00000395348.3	37	c.1438C>T	CCDS7256.1																																																																																				0.443	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		5	122	0	0	0	1	0	5	122				
NOG	9241	broad.mit.edu	37	17	54671609	54671609	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr17:54671609G>T	ENST00000332822.4	+	1	550	c.25G>T	c.(25-27)Gtc>Ttc	p.V9F		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	9					axial mesoderm development (GO:0048318)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal system development (GO:0048706)|endoderm formation (GO:0001706)|epithelial to mesenchymal transition (GO:0001837)|face morphogenesis (GO:0060325)|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060825)|in utero embryonic development (GO:0001701)|limb development (GO:0060173)|lung morphogenesis (GO:0060425)|mesoderm formation (GO:0001707)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine activity (GO:0060302)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glomerulus development (GO:0090193)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostatic bud formation (GO:0060513)|regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000313)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|somite development (GO:0061053)|spinal cord development (GO:0021510)|ureteric bud formation (GO:0060676)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			ovary(1)	1	Breast(9;5.24e-08)					CAGCCTAGGGGTCACCCTCTA	0.761																																						ENST00000332822.4																			0				ovary(1)	1						c.(25-27)Gtc>Ttc		noggin							9.0	10.0	9.0					17																	54671609		2188	4277	6465	SO:0001583	missense	9241				BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity	g.chr17:54671609G>T	U31202	CCDS11589.1	17q22	2006-04-25	2003-03-12		ENSG00000183691	ENSG00000183691			7866	protein-coding gene	gene with protein product		602991	"""synostoses (multiple) syndrome 1"", ""symphalangism 1 (proximal)"""	SYNS1, SYM1		7666191, 10080184, 11545688	Standard	NM_005450		Approved		uc002iup.2	Q13253	OTTHUMG00000151770	ENST00000332822.4:c.25G>T	17.37:g.54671609G>T	ENSP00000328181:p.Val9Phe						p.V9F	NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN			1	550	+	Breast(9;5.24e-08)		9						Missense_Mutation	SNP	ENST00000332822.4	37	c.25G>T	CCDS11589.1	.	.	.	.	.	.	.	.	.	.	G	5.469	0.271594	0.10349	.	.	ENSG00000183691	ENST00000332822	D	0.98362	-4.89	3.56	2.55	0.30701	.	0.322570	0.27917	U	0.017323	D	0.92430	0.7597	N	0.08118	0	0.42015	D	0.990951	B	0.15719	0.014	B	0.18263	0.021	D	0.86811	0.1998	10	0.72032	D	0.01	-7.4777	4.1823	0.10381	0.1994:0.0:0.6026:0.198	.	9	Q13253	NOGG_HUMAN	F	9	ENSP00000328181:V9F	ENSP00000328181:V9F	V	+	1	0	NOG	52026608	1.000000	0.71417	0.998000	0.56505	0.310000	0.27922	0.923000	0.28757	0.791000	0.33826	-0.321000	0.08615	GTC		0.761	NOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323857.1	NM_005450		9	14	1	0	0.000274275	1	0.000280439	9	14				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			2679							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		5	22	0	0	0	1	0	5	22				
PTPRM	5797	broad.mit.edu	37	18	8379271	8379271	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr18:8379271G>A	ENST00000332175.8	+	26	4717	c.3680G>A	c.(3679-3681)cGc>cAc	p.R1227H	PTPRM_ENST00000444013.1_Missense_Mutation_p.R1014H|PTPRM_ENST00000400053.4_Missense_Mutation_p.R1165H|PTPRM_ENST00000400060.4_Missense_Mutation_p.R1241H|PTPRM_ENST00000580170.1_Missense_Mutation_p.R1240H	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1227	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CCCCCAGACCGCTGCCTGCCC	0.607																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(3679-3681)cGc>cAc		protein tyrosine phosphatase, receptor type, M							123.0	96.0	105.0					18																	8379271		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8379271G>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3680G>A	18.37:g.8379271G>A	ENSP00000331418:p.Arg1227His					PTPRM_ENST00000444013.1_Missense_Mutation_p.R1014H|PTPRM_ENST00000400053.4_Missense_Mutation_p.R1165H|PTPRM_ENST00000400060.4_Missense_Mutation_p.R1241H|PTPRM_ENST00000580170.1_Missense_Mutation_p.R1240H	p.R1227H	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			26	4717	+		Colorectal(10;0.234)	1227			Tyrosine-protein phosphatase 2.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.3680G>A	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	34	5.385083	0.95967	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	6.17	5.3	0.74995	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	N	0.20483	0.58	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.938;0.996	T	0.07654	-1.0761	10	0.48119	T	0.1	.	17.6818	0.88246	0.0:0.1228:0.8772:0.0	.	1014;1240;1227	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	H	1227;1241;1165;1014	ENSP00000331418:R1227H;ENSP00000382933:R1241H;ENSP00000382927:R1165H;ENSP00000387608:R1014H	ENSP00000331418:R1227H	R	+	2	0	PTPRM	8369271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.615000	0.50252	0.655000	0.94253	CGC		0.607	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			17	80	0	0	0	1	0	17	80				
RAPH1	65059	broad.mit.edu	37	2	204305714	204305714	+	Silent	SNP	A	A	G			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr2:204305714A>G	ENST00000319170.5	-	14	2498	c.2199T>C	c.(2197-2199)tgT>tgC	p.C733C	RAPH1_ENST00000374493.3_Silent_p.C785C|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	733					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGATGGGGCACACGGTGCAG	0.622																																						ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2197-2199)tgT>tgC		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							32.0	41.0	38.0					2																	204305714		2148	4238	6386	SO:0001819	synonymous_variant	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204305714A>G	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.2199T>C	2.37:g.204305714A>G						RAPH1_ENST00000374493.3_Silent_p.C785C|RAPH1_ENST00000457812.1_Intron	p.C733C	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			14	2498	-			733					Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	c.2199T>C	CCDS2359.1																																																																																				0.622	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		8	80	0	0	0	1	0	8	80				
CPSF7	79869	broad.mit.edu	37	11	61183738	61183738	+	Silent	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr11:61183738G>A	ENST00000394888.4	-	6	976	c.804C>T	c.(802-804)ccC>ccT	p.P268P	CPSF7_ENST00000340437.4_Silent_p.P311P|CPSF7_ENST00000448745.1_Silent_p.P259P|CPSF7_ENST00000439958.3_Silent_p.P259P	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	268	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GAGGAGGTGGGGGCATGAGAT	0.607																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(931-933)ccC>ccT		cleavage and polyadenylation specific factor 7, 59kDa							52.0	55.0	54.0					11																	61183738		2202	4299	6501	SO:0001819	synonymous_variant	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61183738G>A		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.804C>T	11.37:g.61183738G>A						CPSF7_ENST00000448745.1_Silent_p.P259P|CPSF7_ENST00000439958.3_Silent_p.P259P|CPSF7_ENST00000394888.4_Silent_p.P268P	p.P311P	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			6	1013	-			268			Pro-rich.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Silent	SNP	ENST00000394888.4	37	c.933C>T	CCDS44619.1																																																																																				0.607	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		38	19	0	0	0	1	0	38	19				
SPDYC	387778	broad.mit.edu	37	11	64939779	64939779	+	Silent	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr11:64939779C>T	ENST00000377185.2	+	4	403	c.321C>T	c.(319-321)acC>acT	p.T107T	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						GCGAGTATACCCACAGCAGCC	0.597																																						ENST00000377185.2																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						c.(319-321)acC>acT		speedy/RINGO cell cycle regulator family member C							85.0	80.0	82.0					11																	64939779		2201	4297	6498	SO:0001819	synonymous_variant	387778				cell cycle	nucleus	protein kinase binding	g.chr11:64939779C>T	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.321C>T	11.37:g.64939779C>T							p.T107T	NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN			4	403	+			107			Speedy/Ringo box; Required for CDK- binding (By similarity).			Silent	SNP	ENST00000377185.2	37	c.321C>T	CCDS31606.1																																																																																				0.597	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778		40	143	0	0	0	1	0	40	143				
ISOC1	51015	broad.mit.edu	37	5	128430636	128430636	+	Silent	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr5:128430636C>T	ENST00000173527.5	+	1	193	c.177C>T	c.(175-177)ggC>ggT	p.G59G	MIR4633_ENST00000584064.1_RNA	NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	59						extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	catalytic activity (GO:0003824)			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		GCCTGTACGGCGACCAGATCG	0.632																																						ENST00000173527.5																			0				kidney(2)|lung(7)	9						c.(175-177)ggC>ggT		isochorismatase domain containing 1							35.0	41.0	39.0					5																	128430636		2040	4181	6221	SO:0001819	synonymous_variant	51015					peroxisome	catalytic activity	g.chr5:128430636C>T	AF151869	CCDS43357.1	5q22.1-q33.3	2010-03-19			ENSG00000066583	ENSG00000066583			24254	protein-coding gene	gene with protein product						10810093, 18566572	Standard	NM_016048		Approved	CGI-111	uc003kva.3	Q96CN7	OTTHUMG00000163144	ENST00000173527.5:c.177C>T	5.37:g.128430636C>T							p.G59G	NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)	1	193	+		all_cancers(142;0.0813)|Prostate(80;0.0865)	59					Q7Z770	Silent	SNP	ENST00000173527.5	37	c.177C>T	CCDS43357.1																																																																																				0.632	ISOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371826.1	NM_016048		13	14	0	0	0	1	0	13	14				
PKD1	5310	broad.mit.edu	37	16	2154548	2154548	+	Silent	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr16:2154548C>T	ENST00000262304.4	-	22	8320	c.8112G>A	c.(8110-8112)gcG>gcA	p.A2704A	PKD1_ENST00000423118.1_Silent_p.A2704A|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2704	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCACGGTGCCCGCGGTGGTCT	0.692																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(8110-8112)gcG>gcA		polycystic kidney disease 1 (autosomal dominant)							10.0	8.0	8.0					16																	2154548		2059	4125	6184	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2154548C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8112G>A	16.37:g.2154548C>T						PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Silent_p.A2704A	p.A2704A	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			22	8320	-			2704			REJ.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.8112G>A	CCDS32369.1																																																																																				0.692	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			4	5	0	0	0	1	0	4	5				
C7orf61	402573	broad.mit.edu	37	7	100061023	100061023	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr7:100061023G>A	ENST00000332375.3	-	2	595	c.350C>T	c.(349-351)tCt>tTt	p.S117F	TSC22D4_ENST00000496728.1_5'UTR|RN7SL161P_ENST00000582642.1_RNA	NM_001004323.1	NP_001004323.1	Q8IZ16	CG061_HUMAN	chromosome 7 open reading frame 61	117						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|prostate(1)|skin(1)	4						CTGCAGGGCAGAGACCATGAG	0.627																																						ENST00000332375.3																			0				central_nervous_system(1)|endometrium(1)|prostate(1)|skin(1)	4						c.(349-351)tCt>tTt		chromosome 7 open reading frame 61							77.0	84.0	82.0					7																	100061023		2059	4207	6266	SO:0001583	missense	402573							g.chr7:100061023G>A		CCDS47661.1	7q22.1	2013-10-11			ENSG00000185955	ENSG00000185955			22135	protein-coding gene	gene with protein product						12690205	Standard	NM_001004323		Approved	IMAGE:4839025	uc003uuz.1	Q8IZ16	OTTHUMG00000150234	ENST00000332375.3:c.350C>T	7.37:g.100061023G>A	ENSP00000327732:p.Ser117Phe					TSC22D4_ENST00000496728.1_5'UTR	p.S117F	NM_001004323.1	NP_001004323.1	Q8IZ16	CG061_HUMAN			2	595	-			117						Missense_Mutation	SNP	ENST00000332375.3	37	c.350C>T	CCDS47661.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.247174	0.22796	.	.	ENSG00000185955	ENST00000332375	.	.	.	4.02	4.02	0.46733	.	0.000000	0.37577	N	0.002033	T	0.64080	0.2566	L	0.34521	1.04	0.51482	D	0.999927	D	0.89917	1.0	D	0.76071	0.987	T	0.66634	-0.5874	9	0.87932	D	0	-27.7935	11.953	0.52966	0.0:0.0:1.0:0.0	.	117	Q8IZ16	CG061_HUMAN	F	117	.	ENSP00000327732:S117F	S	-	2	0	C7orf61	99898959	0.372000	0.25064	0.077000	0.20336	0.074000	0.17049	2.360000	0.44151	2.541000	0.85698	0.561000	0.74099	TCT		0.627	C7orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316976.2	NM_001004323		50	71	0	0	0	1	0	50	71				
STAT3	6774	broad.mit.edu	37	17	40486033	40486033	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr17:40486033G>A	ENST00000264657.5	-	9	1144	c.832C>T	c.(832-834)Cgt>Tgt	p.R278C	STAT3_ENST00000588969.1_Missense_Mutation_p.R278C|STAT3_ENST00000389272.3_Missense_Mutation_p.R180C|STAT3_ENST00000585517.1_Missense_Mutation_p.R278C|STAT3_ENST00000404395.3_Missense_Mutation_p.R278C	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	278					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ATTTGTTGACGGGTCTGAAGT	0.443									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(832-834)Cgt>Tgt		signal transducer and activator of transcription 3 (acute-phase response factor)							74.0	73.0	73.0					17																	40486033		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40486033G>A	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.832C>T	17.37:g.40486033G>A	ENSP00000264657:p.Arg278Cys					STAT3_ENST00000404395.3_Missense_Mutation_p.R278C|STAT3_ENST00000389272.3_Missense_Mutation_p.R180C|STAT3_ENST00000588969.1_Missense_Mutation_p.R278C|STAT3_ENST00000585517.1_Missense_Mutation_p.R278C	p.R278C	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	9	1144	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	278					A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.832C>T	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393226	0.83011	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	T;T;T	0.70045	-0.45;-0.45;-0.45	5.75	5.75	0.90469	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.000000	0.85682	D	0.000000	D	0.82388	0.5026	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.996;0.996	T	0.83229	-0.0064	10	0.87932	D	0	.	19.9522	0.97203	0.0:0.0:1.0:0.0	.	278;278;278	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	C	278;180;278	ENSP00000264657:R278C;ENSP00000373923:R180C;ENSP00000384943:R278C	ENSP00000264657:R278C	R	-	1	0	STAT3	37739559	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.215000	0.65241	2.725000	0.93324	0.655000	0.94253	CGT		0.443	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		28	43	0	0	0	1	0	28	43				
TAF6L	10629	broad.mit.edu	37	11	62549756	62549756	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr11:62549756C>T	ENST00000294168.3	+	8	979	c.778C>T	c.(778-780)Cac>Tac	p.H260Y	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	260					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CCTGAATGACCACTGGACTCT	0.627																																						ENST00000294168.3																			0				endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						c.(778-780)Cac>Tac		TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							76.0	78.0	77.0					11																	62549756		2201	4299	6500	SO:0001583	missense	10629				chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity	g.chr11:62549756C>T	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.778C>T	11.37:g.62549756C>T	ENSP00000294168:p.His260Tyr					TMEM223_ENST00000527073.1_Intron	p.H260Y	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN			8	979	+			260					B2RAT0|Q96HA6	Missense_Mutation	SNP	ENST00000294168.3	37	c.778C>T	CCDS8035.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077089	0.94000	.	.	ENSG00000162227	ENST00000294168	T	0.66280	-0.2	5.4	5.4	0.78164	Domain of unknown function DUF1546 (1);	0.000000	0.85682	D	0.000000	T	0.81356	0.4805	M	0.85710	2.77	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.83814	0.0243	10	0.87932	D	0	-18.6386	16.7038	0.85366	0.0:1.0:0.0:0.0	.	260	Q9Y6J9	TAF6L_HUMAN	Y	260	ENSP00000294168:H260Y	ENSP00000294168:H260Y	H	+	1	0	TAF6L	62306332	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.352000	0.79404	2.813000	0.96785	0.561000	0.74099	CAC		0.627	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473		35	51	0	0	0	1	0	35	51				
CELF5	60680	broad.mit.edu	37	19	3281254	3281254	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr19:3281254C>T	ENST00000292672.2	+	6	698	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	CELF5_ENST00000541430.2_Missense_Mutation_p.R221W	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	221					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GCGGACGCTCCGGCGCATGCA	0.682																																						ENST00000541430.2																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						c.(661-663)Cgg>Tgg		CUGBP, Elav-like family member 5							90.0	80.0	84.0					19																	3281254		2203	4300	6503	SO:0001583	missense	60680				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:3281254C>T	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"""RNA binding motif (RRM) containing"""	14058	protein-coding gene	gene with protein product		612680	"""Bruno (Drosophila) -like 5, RNA binding protein"", ""bruno-like 5, RNA binding protein (Drosophila)"""	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.661C>T	19.37:g.3281254C>T	ENSP00000292672:p.Arg221Trp					CELF5_ENST00000292672.2_Missense_Mutation_p.R221W	p.R221W	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN			6	697	+			221					D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Missense_Mutation	SNP	ENST00000292672.2	37	c.661C>T	CCDS12106.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273975	0.40194	.	.	ENSG00000161082	ENST00000292672;ENST00000541430;ENST00000334293	T;T;T	0.37058	3.31;1.36;1.22	3.73	-0.0255	0.13935	.	0.130899	0.50627	D	0.000101	T	0.58566	0.2131	M	0.80616	2.505	0.51767	D	0.99993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.991	T	0.60459	-0.7259	10	0.87932	D	0	-6.6307	13.2162	0.59861	0.4007:0.5993:0.0:0.0	.	107;221;221	B4DFI3;Q8N6W0-2;Q8N6W0	.;.;CELF5_HUMAN	W	221;221;107	ENSP00000292672:R221W;ENSP00000443498:R221W;ENSP00000335182:R107W	ENSP00000292672:R221W	R	+	1	2	CELF5	3232254	0.826000	0.29277	0.026000	0.17262	0.446000	0.32137	1.584000	0.36589	-0.441000	0.07201	-2.048000	0.00412	CGG		0.682	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938		7	107	0	0	0	1	0	7	107				
PFKM	5213	broad.mit.edu	37	12	48526697	48526697	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr12:48526697G>A	ENST00000312352.7	+	5	323	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	PFKM_ENST00000395233.2_Missense_Mutation_p.R95Q|PFKM_ENST00000551804.1_Missense_Mutation_p.R95Q|PFKM_ENST00000547587.1_Missense_Mutation_p.R95Q|PFKM_ENST00000340802.6_Missense_Mutation_p.R166Q|PFKM_ENST00000359794.5_Missense_Mutation_p.R95Q	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	95	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TTTCGGGAACGAGAAGGACGA	0.572																																						ENST00000340802.6																			0				NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(496-498)cGa>cAa		phosphofructokinase, muscle							94.0	78.0	83.0					12																	48526697		2203	4300	6503	SO:0001583	missense	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48526697G>A	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.284G>A	12.37:g.48526697G>A	ENSP00000309438:p.Arg95Gln					PFKM_ENST00000551804.1_Missense_Mutation_p.R95Q|PFKM_ENST00000547587.1_Missense_Mutation_p.R95Q|PFKM_ENST00000359794.5_Missense_Mutation_p.R95Q|PFKM_ENST00000312352.7_Missense_Mutation_p.R95Q|PFKM_ENST00000395233.2_Missense_Mutation_p.R95Q	p.R166Q	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN			7	721	+			95					J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	c.497G>A	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015339	0.93404	.	.	ENSG00000152556	ENST00000550345;ENST00000549003;ENST00000549941;ENST00000340802;ENST00000359794;ENST00000551339;ENST00000395233;ENST00000548345;ENST00000551804;ENST00000549022;ENST00000547587;ENST00000312352	T;T;T;T;T;T;T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	4.54	4.54	0.55810	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.88855	0.6550	M	0.86573	2.825	0.80722	D	1	D;D;D	0.61697	0.99;0.988;0.99	P;P;B	0.56216	0.794;0.447;0.433	D	0.90890	0.4760	10	0.87932	D	0	-5.8351	17.2572	0.87060	0.0:0.0:1.0:0.0	.	95;95;166	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	Q	95;95;128;166;95;95;95;95;95;95;95;95	ENSP00000450369:R95Q;ENSP00000449835:R95Q;ENSP00000446829:R128Q;ENSP00000345771:R166Q;ENSP00000352842:R95Q;ENSP00000448253:R95Q;ENSP00000378656:R95Q;ENSP00000449269:R95Q;ENSP00000448177:R95Q;ENSP00000446805:R95Q;ENSP00000449426:R95Q;ENSP00000309438:R95Q	ENSP00000309438:R95Q	R	+	2	0	PFKM	46812964	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	3.939000	0.56591	2.811000	0.96726	0.555000	0.69702	CGA		0.572	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		8	33	0	0	0	1	0	8	33				
LILRB1	10859	broad.mit.edu	37	19	55143426	55143426	+	Silent	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr19:55143426C>T	ENST00000396331.1	+	6	756	c.399C>T	c.(397-399)ccC>ccT	p.P133P	LILRB1_ENST00000434867.2_Silent_p.P133P|LILRB1_ENST00000324602.7_Silent_p.P133P|LILRB1_ENST00000396327.3_Silent_p.P133P|LILRB1_ENST00000427581.2_Silent_p.P169P|LILRB1_ENST00000418536.2_Silent_p.P133P|LILRB1_ENST00000396332.4_Silent_p.P133P|LILRB1_ENST00000448689.1_Silent_p.P133P|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000396321.2_Silent_p.P133P|LILRB1_ENST00000396315.1_Silent_p.P133P|LILRB1_ENST00000396317.1_Silent_p.P133P	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	133	Ig-like C2-type 2.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGCCCAGCCCCGTGGTGAACT	0.552										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(397-399)ccC>ccT		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							80.0	81.0	81.0					19																	55143426		2203	4300	6503	SO:0001819	synonymous_variant	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143426C>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.399C>T	19.37:g.55143426C>T		HNSCC(37;0.09)				LILRB1_ENST00000396321.2_Silent_p.P133P|LILRB1_ENST00000418536.2_Silent_p.P133P|LILRB1_ENST00000448689.1_Silent_p.P133P|LILRB1_ENST00000396327.3_Silent_p.P133P|LILRB1_ENST00000396315.1_Silent_p.P133P|LILRB1_ENST00000396317.1_Silent_p.P133P|LILRB1_ENST00000434867.2_Silent_p.P133P|LILRB1_ENST00000427581.2_Silent_p.P169P|LILRB1_ENST00000324602.7_Silent_p.P133P|LILRB1_ENST00000396332.4_Silent_p.P133P	p.P133P	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	6	756	+			133			Ig-like C2-type 2.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.399C>T	CCDS42617.1																																																																																				0.552	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			7	115	0	0	0	1	0	7	115				
ZNF280A	129025	broad.mit.edu	37	22	22869676	22869676	+	Silent	SNP	C	C	G			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr22:22869676C>G	ENST00000302097.3	-	2	531	c.279G>C	c.(277-279)gtG>gtC	p.V93V	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CCATAGAGGTCACATGATTTG	0.468																																						ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(277-279)gtG>gtC		zinc finger protein 280A							186.0	154.0	165.0					22																	22869676		2203	4300	6503	SO:0001819	synonymous_variant	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869676C>G	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.279G>C	22.37:g.22869676C>G							p.V93V	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	531	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	93						Silent	SNP	ENST00000302097.3	37	c.279G>C	CCDS13800.1																																																																																				0.468	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		47	96	0	0	0	1	0	47	96				
CDC123	8872	broad.mit.edu	37	10	12277056	12277056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr10:12277056C>T	ENST00000281141.4	+	8	779	c.499C>T	c.(499-501)Cga>Tga	p.R167*	CDC123_ENST00000455773.3_3'UTR|CDC123_ENST00000378900.2_Nonsense_Mutation_p.R167*	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	167					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						GCTCGTTCTCCGAAAATGGTG	0.343																																						ENST00000281141.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(499-501)Cga>Tga		cell division cycle 123							176.0	168.0	171.0					10																	12277056		2203	4300	6503	SO:0001587	stop_gained	8872				cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm		g.chr10:12277056C>T	BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 7"", ""cell division cycle 123 homolog (S. cerevisiae)"""	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.499C>T	10.37:g.12277056C>T	ENSP00000281141:p.Arg167*					CDC123_ENST00000378900.2_Nonsense_Mutation_p.R167*|CDC123_ENST00000455773.3_3'UTR	p.R167*	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN			8	779	+			167					A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	Nonsense_Mutation	SNP	ENST00000281141.4	37	c.499C>T	CCDS7090.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.515700|4.515700	0.85389|0.85389	.|.	.|.	ENSG00000151465|ENSG00000151465	ENST00000440613|ENST00000281141;ENST00000378900;ENST00000442050;ENST00000455773	.|.	.|.	.|.	5.68|5.68	3.77|3.77	0.43336|0.43336	.|.	.|0.055428	.|0.64402	.|D	.|0.000001	T|.	0.32496|.	0.0831|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34625|.	-0.9821|.	3|.	.|0.02654	.|T	.|1	-13.7882|-13.7882	12.7333|12.7333	0.57210|0.57210	0.4321:0.5679:0.0:0.0|0.4321:0.5679:0.0:0.0	.|.	.|.	.|.	.|.	L|X	20|167;167;135;125	.|.	.|ENSP00000281141:R167X	P|R	+|+	2|1	0|2	CDC123|CDC123	12317062|12317062	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.826000|0.826000	0.46750|0.46750	2.405000|2.405000	0.44548|0.44548	0.690000|0.690000	0.31570|0.31570	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.343	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046801.1	NM_006023		38	72	0	0	0	1	0	38	72				
PLEKHG7	440107	broad.mit.edu	37	12	93162805	93162805	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr12:93162805T>G	ENST00000344636.3	+	11	1165	c.981T>G	c.(979-981)taT>taG	p.Y327*		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	327	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						AAAACAGATATCGACAGTGTA	0.313																																						ENST00000344636.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						c.(979-981)taT>taG		pleckstrin homology domain containing, family G (with RhoGef domain) member 7							90.0	86.0	88.0					12																	93162805		2203	4300	6503	SO:0001587	stop_gained	440107				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr12:93162805T>G	AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"""Pleckstrin homology (PH) domain containing"""	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.981T>G	12.37:g.93162805T>G	ENSP00000344961:p.Tyr327*						p.Y327*	NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN			11	1165	+			327			PH.		B2RNR7	Nonsense_Mutation	SNP	ENST00000344636.3	37	c.981T>G	CCDS31873.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.891344	0.72524	.	.	ENSG00000187510	ENST00000344636	.	.	.	5.78	-7.85	0.01192	.	0.054709	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0269	18.1992	0.89832	0.0:0.6499:0.0:0.3501	.	.	.	.	X	327	.	ENSP00000344961:Y327X	Y	+	3	2	PLEKHG7	91686936	0.016000	0.18221	0.001000	0.08648	0.482000	0.33219	-0.243000	0.08915	-2.005000	0.00959	-0.899000	0.02877	TAT		0.313	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330		9	17	0	0	0	1	0	9	17				
GIGYF1	64599	broad.mit.edu	37	7	100279950	100279950	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr7:100279950A>G	ENST00000275732.5	-	21	3965	c.2756T>C	c.(2755-2757)cTg>cCg	p.L919P	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	919					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCCACCGTCCAGGCTGCCCGT	0.697																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2755-2757)cTg>cCg		GRB10 interacting GYF protein 1							35.0	34.0	34.0					7																	100279950		2202	4299	6501	SO:0001583	missense	64599							g.chr7:100279950A>G	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2756T>C	7.37:g.100279950A>G	ENSP00000275732:p.Leu919Pro						p.L919P	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			21	3965	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		919					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.2756T>C	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	13.39	2.222744	0.39300	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	T	0.70749	-0.51	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000009	D	0.82628	0.5078	M	0.73962	2.25	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.84686	0.0720	10	0.72032	D	0.01	-13.8001	12.9594	0.58449	1.0:0.0:0.0:0.0	.	919	O75420	PERQ1_HUMAN	P	638;919	ENSP00000275732:L919P	ENSP00000275732:L919P	L	-	2	0	GIGYF1	100117886	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	6.672000	0.74477	2.159000	0.67721	0.454000	0.30748	CTG		0.697	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		20	32	0	0	0	1	0	20	32				
PRSS8	5652	broad.mit.edu	37	16	31144141	31144141	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr16:31144141C>T	ENST00000317508.6	-	4	663	c.400G>A	c.(400-402)Gac>Aac	p.D134N	PRSS8_ENST00000568261.1_Missense_Mutation_p.D80N|RP11-388M20.2_ENST00000563605.1_RNA	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	134	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of sodium ion transport (GO:0010765)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						AGTGCAATGTCGCCCTGGGAG	0.647																																						ENST00000317508.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(400-402)Gac>Aac		protease, serine, 8							147.0	164.0	158.0					16																	31144141		2181	4271	6452	SO:0001583	missense	5652				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr16:31144141C>T	U33446	CCDS45469.1	16p11.2	2010-05-07	2007-02-21			ENSG00000052344		"""Serine peptidases / Serine peptidases"""	9491	protein-coding gene	gene with protein product	"""prostasin"""	600823				8838796, 7768952	Standard	NM_002773		Approved		uc002ebc.4	Q16651		ENST00000317508.6:c.400G>A	16.37:g.31144141C>T	ENSP00000319730:p.Asp134Asn					PRSS8_ENST00000568261.1_Missense_Mutation_p.D80N	p.D134N	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN			4	663	-			134			Peptidase S1.		B4DWP2|Q9UCA3	Missense_Mutation	SNP	ENST00000317508.6	37	c.400G>A	CCDS45469.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198583	0.79015	.	.	ENSG00000052344	ENST00000317508	D	0.98747	-5.11	5.45	5.45	0.79879	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000008	D	0.99083	0.9685	M	0.79343	2.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99862	1.1084	10	0.87932	D	0	.	18.0538	0.89357	0.0:1.0:0.0:0.0	.	80;134	B4DWP2;Q16651	.;PRSS8_HUMAN	N	134	ENSP00000319730:D134N	ENSP00000319730:D134N	D	-	1	0	PRSS8	31051642	1.000000	0.71417	0.746000	0.31095	0.117000	0.20001	5.503000	0.66962	2.554000	0.86153	0.561000	0.74099	GAC		0.647	PRSS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433536.1	NM_002773		85	156	0	0	0	1	0	85	156				
H1FNT	341567	broad.mit.edu	37	12	48723402	48723402	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr12:48723402C>T	ENST00000335017.1	+	1	640	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	110					chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CACGCTCCTCCGGGTCAGCGG	0.701																																						ENST00000335017.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						c.(328-330)Cgg>Tgg		H1 histone family, member N, testis-specific							14.0	18.0	16.0					12																	48723402		2196	4293	6489	SO:0001583	missense	341567				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding	g.chr12:48723402C>T	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"""Histones / Replication-independent"""	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.328C>T	12.37:g.48723402C>T	ENSP00000334805:p.Arg110Trp						p.R110W	NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN			1	640	+			110					Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP	ENST00000335017.1	37	c.328C>T	CCDS8762.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290795	0.59976	.	.	ENSG00000187166	ENST00000335017	T	0.25912	1.77	5.13	0.741	0.18336	.	0.000000	0.29838	N	0.011063	T	0.41811	0.1175	L	0.52573	1.65	0.31343	N	0.683412	D	0.89917	1.0	D	0.91635	0.999	T	0.50389	-0.8834	10	0.87932	D	0	-11.9587	12.7224	0.57149	0.5745:0.4255:0.0:0.0	.	110	Q75WM6	H1FNT_HUMAN	W	110	ENSP00000334805:R110W	ENSP00000334805:R110W	R	+	1	2	H1FNT	47009669	1.000000	0.71417	0.559000	0.28332	0.273000	0.26683	1.930000	0.40124	0.134000	0.18681	-0.175000	0.13238	CGG		0.701	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1	NM_181788		3	17	0	0	0	1	0	3	17				
CROCCP2	84809	broad.mit.edu	37	1	16956574	16956574	+	lincRNA	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr1:16956574C>T	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCTCGCTGTCGCTAAGCTGC	0.647																																						ENST00000412962.1																			0																																																			84809							g.chr1:16956574C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16956574C>T														0	294	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.647	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		7	59	0	0	0	1	0	7	59				
EFTUD1	79631	broad.mit.edu	37	15	82443855	82443855	+	Silent	SNP	C	C	G			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr15:82443855C>G	ENST00000268206.7	-	18	3108	c.2940G>C	c.(2938-2940)ctG>ctC	p.L980L	EFTUD1_ENST00000359445.3_Silent_p.L929L	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	980					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TAGCTGCCATCAGGCGCTGAG	0.463																																						ENST00000268206.7																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2938-2940)ctG>ctC		elongation factor Tu GTP binding domain containing 1							128.0	124.0	125.0					15																	82443855		2019	4196	6215	SO:0001819	synonymous_variant	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82443855C>G	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.2940G>C	15.37:g.82443855C>G						EFTUD1_ENST00000359445.3_Silent_p.L929L	p.L980L	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN			18	3108	-			980					A6NKY5|B7Z6I0|Q9H8Z6	Silent	SNP	ENST00000268206.7	37	c.2940G>C	CCDS42071.1																																																																																				0.463	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		69	84	0	0	0	1	0	69	84				
ITPR3	3710	broad.mit.edu	37	6	33643520	33643520	+	Missense_Mutation	SNP	C	C	T	rs556088693		TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr6:33643520C>T	ENST00000374316.5	+	26	4229	c.3169C>T	c.(3169-3171)Cgc>Tgc	p.R1057C	ITPR3_ENST00000605930.1_Missense_Mutation_p.R1057C			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1057					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CATGTTCCTGCGCGTGCTCAT	0.647																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(3169-3171)Cgc>Tgc		inositol 1,4,5-trisphosphate receptor, type 3							56.0	43.0	48.0					6																	33643520		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33643520C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.3169C>T	6.37:g.33643520C>T	ENSP00000363435:p.Arg1057Cys					ITPR3_ENST00000605930.1_Missense_Mutation_p.R1057C	p.R1057C			Q14573	ITPR3_HUMAN			26	4229	+			1057					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.3169C>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752289	0.89753	.	.	ENSG00000096433	ENST00000374316	D	0.93659	-3.26	5.67	2.74	0.32292	.	0.122178	0.56097	D	0.000030	D	0.95592	0.8567	M	0.87038	2.855	0.80722	D	1	D	0.76494	0.999	D	0.63033	0.91	D	0.95987	0.8982	10	0.87932	D	0	-21.4084	13.0277	0.58825	0.1162:0.6585:0.2254:0.0	.	1057	Q14573	ITPR3_HUMAN	C	1057	ENSP00000363435:R1057C	ENSP00000363435:R1057C	R	+	1	0	ITPR3	33751498	1.000000	0.71417	0.987000	0.45799	0.980000	0.70556	2.004000	0.40854	1.384000	0.46424	0.655000	0.94253	CGC		0.647	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		4	40	0	0	0	1	0	4	40				
RUFY1	80230	broad.mit.edu	37	5	179004076	179004076	+	Splice_Site	SNP	G	G	C			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr5:179004076G>C	ENST00000319449.4	+	6	841	c.829G>C	c.(829-831)Gtt>Ctt	p.V277L	RUFY1_ENST00000437570.2_Splice_Site_p.V169L|RUFY1_ENST00000377001.2_Splice_Site_p.V277L|RUFY1_ENST00000393438.2_Splice_Site_p.V169L	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	277					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTTCGTTTAGGTTGGAGTAAT	0.308										HNSCC(44;0.11)																												ENST00000377001.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.e6-1		RUN and FYVE domain containing 1							169.0	161.0	164.0					5																	179004076		2203	4300	6503	SO:0001630	splice_region_variant	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:179004076G>C	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.829-1G>C	5.37:g.179004076G>C		HNSCC(44;0.11)				RUFY1_ENST00000437570.2_Splice_Site_p.V169_splice|RUFY1_ENST00000393438.2_Splice_Site_p.V169_splice|RUFY1_ENST00000319449.4_Splice_Site_p.V277_splice	p.V277_splice			Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	829	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	277					Q59FF3|Q71S93|Q9H6I3	Splice_Site	SNP	ENST00000319449.4	37	c.828_splice	CCDS4445.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.88|18.88	3.716958|3.716958	0.68844|0.68844	.|.	.|.	ENSG00000176783|ENSG00000176783	ENST00000508609|ENST00000319449;ENST00000377001;ENST00000437570;ENST00000393438	.|T;T;T;T	.|0.53206	.|0.63;1.84;0.7;0.7	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.127122	.|0.52532	.|D	.|0.000072	T|T	0.46014|0.46014	0.1371|0.1371	M|M	0.64170|0.64170	1.965|1.965	0.80722|0.80722	D|D	1|1	.|P	.|0.39696	.|0.683	.|B	.|0.32533	.|0.147	T|T	0.45556|0.45556	-0.9253|-0.9253	5|9	.|.	.|.	.|.	-13.3968|-13.3968	19.2413|19.2413	0.93886|0.93886	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|277	.|Q96T51	.|RUFY1_HUMAN	S|L	87|277;277;169;169	.|ENSP00000325594:V277L;ENSP00000366200:V277L;ENSP00000390025:V169L;ENSP00000377087:V169L	.|.	R|V	+|+	3|1	2|0	RUFY1|RUFY1	178936682|178936682	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.232000|0.232000	0.25224|0.25224	8.906000|8.906000	0.92626|0.92626	2.636000|2.636000	0.89361|0.89361	0.645000|0.645000	0.84053|0.84053	AGG|GTT		0.308	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451	Missense_Mutation	25	51	0	0	0	1	0	25	51				
ZNF792	126375	broad.mit.edu	37	19	35451806	35451806	+	Silent	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr19:35451806C>T	ENST00000404801.1	-	2	512	c.126G>A	c.(124-126)gtG>gtA	p.V42V	ZNF792_ENST00000605484.1_5'Flank	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	42	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTTCCAGCATCACATCGCAGT	0.572																																					GBM(1;7 183 21053 22581 22847)	ENST00000404801.1																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12						c.(124-126)gtG>gtA		zinc finger protein 792							154.0	145.0	148.0					19																	35451806		2203	4300	6503	SO:0001819	synonymous_variant	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35451806C>T	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.126G>A	19.37:g.35451806C>T							p.V42V	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		2	512	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		42			KRAB.		B4E333|Q495L1|Q495L3|Q8N932	Silent	SNP	ENST00000404801.1	37	c.126G>A	CCDS12440.2																																																																																				0.572	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		30	71	0	0	0	1	0	30	71				
DOCK2	1794	broad.mit.edu	37	5	169111349	169111349	+	Silent	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr5:169111349C>T	ENST00000256935.8	+	8	836	c.756C>T	c.(754-756)gtC>gtT	p.V252V		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	252					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCAAACGGTCATAAGGTAGG	0.488																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(754-756)gtC>gtT		dedicator of cytokinesis 2							153.0	138.0	143.0					5																	169111349		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169111349C>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.756C>T	5.37:g.169111349C>T							p.V252V	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	836	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	252					Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.756C>T	CCDS4371.1																																																																																				0.488	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		15	92	0	0	0	1	0	15	92				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			7	134	0	0	0	1	0	7	134				
NLRC3	197358	broad.mit.edu	37	16	3614338	3614338	+	RNA	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr16:3614338G>A	ENST00000301749.7	-	0	1005				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCTCCCCGACGTGCGGGAAGA	0.647																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							32.0	38.0	36.0					16																	3614338		2011	4167	6178			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3614338G>A	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614338G>A						NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	1005	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37																																																																																						0.647	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		4	23	0	0	0	1	0	4	23				
F5	2153	broad.mit.edu	37	1	169500137	169500137	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr1:169500137C>T	ENST00000367797.3	-	15	5296	c.5095G>A	c.(5095-5097)Gct>Act	p.A1699T	F5_ENST00000367796.3_Missense_Mutation_p.A1704T	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1699	F5/8 type A 3.|Plastocyanin-like 5.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGCTGAACAGCATTATCTTCC	0.473																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(5110-5112)Gct>Act		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						176.0	164.0	168.0					1																	169500137		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169500137C>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.5095G>A	1.37:g.169500137C>T	ENSP00000356771:p.Ala1699Thr					F5_ENST00000367797.3_Missense_Mutation_p.A1699T	p.A1704T			P12259	FA5_HUMAN			15	5311	-	all_hematologic(923;0.208)		1699			F5/8 type A 3.|Plastocyanin-like 5.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.5110G>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672216	0.67928	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99105	-5.43;-5.43	5.35	5.35	0.76521	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.324017	0.32548	N	0.005956	D	0.98661	0.9551	L	0.53249	1.67	0.30674	N	0.753082	D	0.71674	0.998	D	0.78314	0.991	D	0.98595	1.0656	9	0.36615	T	0.2	-12.1752	13.3983	0.60868	0.0:0.9224:0.0:0.0776	.	1699	P12259	FA5_HUMAN	T	1699;1704	ENSP00000356771:A1699T;ENSP00000356770:A1704T	ENSP00000356770:A1704T	A	-	1	0	F5	167766761	1.000000	0.71417	0.215000	0.23724	0.577000	0.36160	4.474000	0.60203	2.499000	0.84300	0.655000	0.94253	GCT		0.473	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		26	166	0	0	0	1	0	26	166				
INPPL1	3636	broad.mit.edu	37	11	71943719	71943719	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr11:71943719C>T	ENST00000298229.2	+	15	1966	c.1762C>T	c.(1762-1764)Cgg>Tgg	p.R588W	INPPL1_ENST00000541756.1_Missense_Mutation_p.R346W|INPPL1_ENST00000538751.1_Missense_Mutation_p.R346W	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	588					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCTGGGCGACCGGCAGCTCAA	0.602																																						ENST00000541756.1																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1036-1038)Cgg>Tgg		inositol polyphosphate phosphatase-like 1							83.0	80.0	81.0					11																	71943719		2200	4293	6493	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71943719C>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1762C>T	11.37:g.71943719C>T	ENSP00000298229:p.Arg588Trp					INPPL1_ENST00000538751.1_Missense_Mutation_p.R346W|INPPL1_ENST00000298229.2_Missense_Mutation_p.R588W	p.R346W			O15357	SHIP2_HUMAN			15	1966	+			588					B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.1036C>T	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	c	22.4	4.281287	0.80692	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	D;D;D	0.83335	-1.71;-1.71;-1.71	5.42	3.47	0.39725	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.224665	0.37715	N	0.001962	D	0.85270	0.5658	L	0.56280	1.765	0.38922	D	0.957762	D	0.76494	0.999	P	0.56563	0.801	D	0.86192	0.1613	10	0.72032	D	0.01	.	11.6435	0.51246	0.4685:0.5315:0.0:0.0	.	588	O15357	SHIP2_HUMAN	W	588;346;346	ENSP00000298229:R588W;ENSP00000446360:R346W;ENSP00000444619:R346W	ENSP00000298229:R588W	R	+	1	2	INPPL1	71621367	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.307000	0.59123	0.710000	0.31997	0.561000	0.74099	CGG		0.602	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		11	64	0	0	0	1	0	11	64				
HTR1B	3351	broad.mit.edu	37	6	78172530	78172530	+	Silent	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr6:78172530C>T	ENST00000369947.2	-	1	960	c.591G>A	c.(589-591)tcG>tcA	p.S197S		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	197					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCACGCATTCCGACACCTCCT	0.607																																						ENST00000369947.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25						c.(589-591)tcG>tcA		5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)						72.0	75.0	74.0					6																	78172530		2203	4300	6503	SO:0001819	synonymous_variant	3351				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr6:78172530C>T	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.591G>A	6.37:g.78172530C>T							p.S197S	NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	1	960	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	197					Q4VAY7	Silent	SNP	ENST00000369947.2	37	c.591G>A	CCDS4986.1																																																																																				0.607	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		4	71	0	0	0	1	0	4	71				
KIAA2026	158358	broad.mit.edu	37	9	5969242	5969242	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr9:5969242C>T	ENST00000399933.3	-	3	988	c.989G>A	c.(988-990)cGt>cAt	p.R330H	KIAA2026_ENST00000381461.2_Missense_Mutation_p.R330H	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	330								p.R330H(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CAGAAGACAACGTTCCAATTC	0.398																																						ENST00000399933.3																			1	Substitution - Missense(1)	p.R330H(1)	endometrium(1)	breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(988-990)cGt>cAt		KIAA2026							85.0	78.0	80.0					9																	5969242		1892	4107	5999	SO:0001583	missense	158358							g.chr9:5969242C>T	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.989G>A	9.37:g.5969242C>T	ENSP00000382815:p.Arg330His					KIAA2026_ENST00000381461.2_Missense_Mutation_p.R330H	p.R330H	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	3	988	-		Acute lymphoblastic leukemia(23;0.158)	330					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.989G>A		.	.	.	.	.	.	.	.	.	.	C	23.3	4.403076	0.83230	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	.	.	.	6.07	6.07	0.98685	.	0.000000	0.49916	U	0.000129	T	0.74558	0.3732	L	0.52759	1.655	0.58432	D	0.999999	D	0.67145	0.996	P	0.60682	0.878	T	0.74372	-0.3687	9	0.72032	D	0.01	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	330	Q5HYC2	K2026_HUMAN	H	330;330;263	.	ENSP00000370870:R330H	R	-	2	0	KIAA2026	5959242	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.459000	0.80802	2.890000	0.99128	0.585000	0.79938	CGT		0.398	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		20	37	0	0	0	1	0	20	37				
EPHA3	2042	broad.mit.edu	37	3	89390120	89390120	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr3:89390120G>T	ENST00000336596.2	+	4	1094	c.869G>T	c.(868-870)tGc>tTc	p.C290F	EPHA3_ENST00000452448.2_Missense_Mutation_p.C290F|EPHA3_ENST00000494014.1_Missense_Mutation_p.C290F	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	290	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGTGCTAAGTGCCCGCCTCAC	0.423										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(868-870)tGc>tTc		EPH receptor A3							167.0	161.0	163.0					3																	89390120		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89390120G>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.869G>T	3.37:g.89390120G>T	ENSP00000337451:p.Cys290Phe	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.C290F|EPHA3_ENST00000452448.2_Missense_Mutation_p.C290F	p.C290F	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	4	1094	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	290			Cys-rich.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.869G>T	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081390	0.76528	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	D;D;D	0.86956	-2.19;-2.19;-2.19	6.17	6.17	0.99709	Tyrosine-protein kinase ephrin type A/B receptor-like (1);	0.085936	0.85682	D	0.000000	D	0.95370	0.8497	H	0.94964	3.605	0.80722	D	1	D;D	0.64830	0.968;0.994	P;P	0.61201	0.637;0.885	D	0.95541	0.8612	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	290;290	P29320;P29320-2	EPHA3_HUMAN;.	F	290	ENSP00000337451:C290F;ENSP00000399926:C290F;ENSP00000419190:C290F	.	C	+	2	0	EPHA3	89472810	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGC		0.423	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		9	142	1	0	0.0581538	1	0.0581538	9	142				
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587657C>T	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587657C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	58	0	0	0	1	0	4	58				
ZKSCAN3	80317	broad.mit.edu	37	6	28333342	28333342	+	Silent	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr6:28333342C>T	ENST00000377255.3	+	7	1194	c.897C>T	c.(895-897)ggC>ggT	p.G299G	ZKSCAN3_ENST00000252211.2_Silent_p.G299G|ZKSCAN3_ENST00000341464.5_Silent_p.G151G	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	299					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AACAGGAGGGCAGGCTACAAA	0.502																																						ENST00000377255.3																			0				kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						c.(895-897)ggC>ggT		zinc finger with KRAB and SCAN domains 3							97.0	90.0	92.0					6																	28333342		2203	4300	6503	SO:0001819	synonymous_variant	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28333342C>T	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.897C>T	6.37:g.28333342C>T						ZKSCAN3_ENST00000341464.5_Silent_p.G151G|ZKSCAN3_ENST00000252211.2_Silent_p.G299G	p.G299G	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN			7	1194	+			299					B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Silent	SNP	ENST00000377255.3	37	c.897C>T	CCDS4650.1																																																																																				0.502	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		5	83	0	0	0	1	0	5	83				
CCDC113	29070	broad.mit.edu	37	16	58312518	58312518	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr16:58312518G>A	ENST00000219299.4	+	8	1103	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	CCDC113_ENST00000443128.2_Missense_Mutation_p.E288K	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	342						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						CAGGATGTGGGAAAGGAAAGT	0.527																																						ENST00000219299.4																			0				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						c.(1024-1026)Gaa>Aaa		coiled-coil domain containing 113							65.0	66.0	66.0					16																	58312518		2198	4300	6498	SO:0001583	missense	29070					protein complex		g.chr16:58312518G>A	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.1024G>A	16.37:g.58312518G>A	ENSP00000219299:p.Glu342Lys					CCDC113_ENST00000443128.2_Missense_Mutation_p.E288K	p.E342K	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN			8	1103	+			342					B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	37	c.1024G>A	CCDS10795.1	.	.	.	.	.	.	.	.	.	.	G	34	5.352986	0.95830	.	.	ENSG00000103021	ENST00000443128;ENST00000219299	T;T	0.37915	1.28;1.17	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.64148	0.2572	M	0.84326	2.69	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64202	-0.6463	10	0.41790	T	0.15	-24.4469	17.2642	0.87081	0.0:0.0:1.0:0.0	.	288;342	B4DR20;Q9H0I3	.;CC113_HUMAN	K	288;342	ENSP00000402588:E288K;ENSP00000219299:E342K	ENSP00000219299:E342K	E	+	1	0	CCDC113	56870019	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.326000	0.65875	2.676000	0.91093	0.561000	0.74099	GAA		0.527	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157		25	31	0	0	0	1	0	25	31				
GRHPR	9380	broad.mit.edu	37	9	37428545	37428545	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr9:37428545G>A	ENST00000318158.6	+	5	554	c.469G>A	c.(469-471)Ggc>Agc	p.G157S	GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000607784.1_Missense_Mutation_p.G157S	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	157					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		GAGCACTGTCGGCATCATCGG	0.667																																						ENST00000607784.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(469-471)Ggc>Agc		glyoxylate reductase/hydroxypyruvate reductase							84.0	85.0	84.0					9																	37428545		2203	4300	6503	SO:0001583	missense	9380				cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding	g.chr9:37428545G>A	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.469G>A	9.37:g.37428545G>A	ENSP00000313432:p.Gly157Ser					GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000318158.6_Missense_Mutation_p.G157S	p.G157S			Q9UBQ7	GRHPR_HUMAN		GBM - Glioblastoma multiforme(29;0.00687)	5	474	+			157					Q5T945|Q9H3E9|Q9H636|Q9UKX1	Missense_Mutation	SNP	ENST00000318158.6	37	c.469G>A	CCDS6609.1	.	.	.	.	.	.	.	.	.	.	G	36	5.883640	0.97062	.	.	ENSG00000137106	ENST00000377824;ENST00000318158	D;D	0.85556	-2.0;-2.0	5.77	5.77	0.91146	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95066	0.8402	H	0.95328	3.655	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.72338	0.977;0.967;0.967	D	0.95680	0.8731	10	0.66056	D	0.02	0.3692	20.0408	0.97588	0.0:0.0:1.0:0.0	.	157;157;157	Q5T946;Q5T945;Q9UBQ7	.;.;GRHPR_HUMAN	S	157	ENSP00000367055:G157S;ENSP00000313432:G157S	ENSP00000313432:G157S	G	+	1	0	GRHPR	37418545	1.000000	0.71417	0.977000	0.42913	0.873000	0.50193	9.541000	0.98083	2.741000	0.93983	0.650000	0.86243	GGC		0.667	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	NM_012203		16	154	0	0	0	1	0	16	154				
OPA1	4976	broad.mit.edu	37	3	193332546	193332546	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr3:193332546G>A	ENST00000392438.3	+	2	301	c.67G>A	c.(67-69)Gga>Aga	p.G23R	OPA1_ENST00000361150.2_Missense_Mutation_p.G23R|OPA1_ENST00000361715.2_Missense_Mutation_p.G23R|OPA1_ENST00000361908.3_Missense_Mutation_p.G23R|OPA1_ENST00000361828.2_Missense_Mutation_p.G23R|OPA1_ENST00000361510.2_Missense_Mutation_p.G23R	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	23					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		ACACAGCTCTGGAATAAAAGG	0.368																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(67-69)Gga>Aga		optic atrophy 1 (autosomal dominant)							113.0	105.0	108.0					3																	193332546		2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193332546G>A	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.67G>A	3.37:g.193332546G>A	ENSP00000376233:p.Gly23Arg					OPA1_ENST00000361908.3_Missense_Mutation_p.G23R|OPA1_ENST00000361715.2_Missense_Mutation_p.G23R|OPA1_ENST00000361150.2_Missense_Mutation_p.G23R|OPA1_ENST00000361828.2_Missense_Mutation_p.G23R|OPA1_ENST00000392438.3_Missense_Mutation_p.G23R	p.G23R	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	2	301	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		23					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.67G>A	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838989	0.91117	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150;ENST00000392437;ENST00000392436	D;D;D;D;D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73	5.98	5.98	0.97165	.	0.167272	0.53938	D	0.000053	D	0.95793	0.8631	L	0.53249	1.67	0.58432	D	0.999991	P;B;B;B;P;B;P;P	0.47191	0.761;0.232;0.392;0.392;0.891;0.392;0.761;0.891	P;B;B;B;P;B;P;P	0.49637	0.521;0.082;0.23;0.311;0.617;0.23;0.521;0.617	D	0.95614	0.8675	10	0.62326	D	0.03	-16.3844	19.4463	0.94849	0.0:0.0:1.0:0.0	.	23;23;23;23;23;23;23;23	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	R	23	ENSP00000354681:G23R;ENSP00000376233:G23R;ENSP00000355324:G23R;ENSP00000355311:G23R;ENSP00000354429:G23R;ENSP00000354781:G23R;ENSP00000376232:G23R;ENSP00000376231:G23R	ENSP00000354781:G23R	G	+	1	0	OPA1	194815240	1.000000	0.71417	0.996000	0.52242	0.924000	0.55760	6.630000	0.74272	2.835000	0.97688	0.650000	0.86243	GGA		0.368	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		9	182	0	0	0	1	0	9	182				
TPD52L2	7165	broad.mit.edu	37	20	62518930	62518930	+	Intron	SNP	C	C	T			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr20:62518930C>T	ENST00000346249.4	+	6	552				TPD52L2_ENST00000369927.4_Intron|TPD52L2_ENST00000217121.5_Missense_Mutation_p.R173C|TPD52L2_ENST00000351424.4_Missense_Mutation_p.R153C|TPD52L2_ENST00000358548.4_Missense_Mutation_p.R144C|TPD52L2_ENST00000348257.5_Intron|TPD52L2_ENST00000352482.4_Missense_Mutation_p.R164C	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2						regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					CTACTCCATCCGCCACTCAAT	0.582																																						ENST00000217121.5																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(517-519)Cgc>Tgc		tumor protein D52-like 2							173.0	165.0	168.0					20																	62518930		2203	4300	6503	SO:0001627	intron_variant	7165				regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity	g.chr20:62518930C>T	AF004430	CCDS13540.1, CCDS13541.1, CCDS13542.1, CCDS13543.1, CCDS13544.1, CCDS13545.1, CCDS58785.1, CCDS74752.1, CCDS74753.1	20q13.2-q13.3	2007-12-19			ENSG00000101150	ENSG00000101150			12007	protein-coding gene	gene with protein product		603747				9484778	Standard	NM_199360		Approved	D54, hD54	uc002ygy.3	O43399	OTTHUMG00000033009	ENST00000346249.4:c.477-1613C>T	20.37:g.62518930C>T						TPD52L2_ENST00000346249.4_Intron|TPD52L2_ENST00000351424.4_Missense_Mutation_p.R153C|TPD52L2_ENST00000369927.4_Intron|TPD52L2_ENST00000352482.4_Missense_Mutation_p.R164C|TPD52L2_ENST00000348257.5_Intron|TPD52L2_ENST00000358548.4_Missense_Mutation_p.R144C	p.R173C	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN			7	589	+	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)		157					B4DPJ6|E1P5G7|O43398|Q5JWU5|Q5JWU6|Q5JWU8|Q5U0E0|Q9H3Z6	Missense_Mutation	SNP	ENST00000346249.4	37	c.517C>T	CCDS13540.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103806	0.76983	.	.	ENSG00000101150	ENST00000352482;ENST00000351424;ENST00000217121;ENST00000358548	T;T;T;T	0.34275	1.37;1.4;1.38;1.38	5.25	5.25	0.73442	.	0.128178	0.52532	D	0.000074	T	0.52709	0.1751	L	0.42245	1.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.987	T	0.50642	-0.8804	10	0.54805	T	0.06	-14.514	15.9214	0.79580	0.0:1.0:0.0:0.0	.	144;153;164;173	O43399-4;O43399-3;Q5U0E0;Q5JWU6	.;.;.;.	C	164;153;173;144	ENSP00000344647:R164C;ENSP00000340006:R153C;ENSP00000217121:R173C;ENSP00000351350:R144C	ENSP00000217121:R173C	R	+	1	0	TPD52L2	61989374	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.987000	0.63857	2.620000	0.88729	0.655000	0.94253	CGC		0.582	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080248.1			16	193	0	0	0	1	0	16	193				
PIK3R1	5295	broad.mit.edu	37	5	67591132	67591134	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr5:67591132_67591134delGAC	ENST00000521381.1	+	13	2341_2343	c.1725_1727delGAC	c.(1723-1728)aagacg>aag	p.T576del	PIK3R1_ENST00000274335.5_In_Frame_Del_p.T576del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.T576del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.T213del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.T306del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.T276del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.T576del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	576					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.T576del(3)|p.R574_T576del(2)|p.L570_D578del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AGCTGAGAAAGACGAGAGACCAA	0.374			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		8	Deletion - In frame(4)|Deletion - Frameshift(2)|Whole gene deletion(1)|Unknown(1)	p.T576del(3)|p.R574_T576del(2)|p.L570_D578del(1)|p.0?(1)|p.?(1)	central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1723-1728)aag>aa		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591132_67591134delGAC	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1725_1727delGAC	5.37:g.67591132_67591134delGAC	ENSP00000428056:p.Thr576del	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000336483.5_In_Frame_Del_p.KT305del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.KT575del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.KT575del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.KT212del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.KT575del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.KT275del	p.KT575del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2341_2343	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	575					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1725_1727delGAC	CCDS3993.1																																																																																				0.374	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		11	134						11	134	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128484980	128484981	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr7:128484980_128484981delAC	ENST00000325888.8	+	21	3722_3723	c.3461_3462delAC	c.(3460-3462)gacfs	p.D1154fs	FLNC_ENST00000346177.6_Frame_Shift_Del_p.D1154fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1154					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						CCTGTGTTTGACCCGAGCAAGG	0.649																																						ENST00000325888.8																			0				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						c.(3460-3462)gfs		filamin C, gamma																																				SO:0001589	frameshift_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128484980_128484981delAC	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.3461_3462delAC	7.37:g.128484980_128484981delAC	ENSP00000327145:p.Asp1154fs					FLNC_ENST00000346177.6_Frame_Shift_Del_p.D1154fs	p.D1154fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			21	3722_3723	+			1154					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Frame_Shift_Del	DEL	ENST00000325888.8	37	c.3461_3462delAC	CCDS43644.1																																																																																				0.649	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			26	29						26	29	---	---	---	---
ACTN3	89	broad.mit.edu	37	11	66321927	66321928	+	RNA	INS	-	-	A	rs56394515|rs574346914	byFrequency	TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr11:66321927_66321928insA	ENST00000502692.1	+	0	714				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						gaccctgtctcaaaaaaaaaaa	0.54													|||unknown(HR)	1645	0.328474	0.4433	0.2493	5008	,	,		13398	0.3323		0.3549	False		,,,				2504	0.1984					ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)																																						89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66321927_66321928insA	M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66321938_66321938dupA						ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN			0	566	+								A6NP77|Q4KKV2	RNA	INS	ENST00000502692.1	37																																																																																						0.540	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000362465.1	NM_001104		2	4						2	4	---	---	---	---
SLC39A9	55334	broad.mit.edu	37	14	69925126	69925135	+	Frame_Shift_Del	DEL	TGCTTTTCTC	TGCTTTTCTC	-	rs370225870		TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr14:69925126_69925135delTGCTTTTCTC	ENST00000336643.5	+	7	1418_1427	c.740_749delTGCTTTTCTC	c.(739-750)atgcttttctctfs	p.MLFS247fs	SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000557046.1_Frame_Shift_Del_p.MLFS224fs|SLC39A9_ENST00000031146.4_Frame_Shift_Del_p.MLFS181fs|SLC39A9_ENST00000556605.1_Intron	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	247					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		GGAGTGGCCATGCTTTTCTCTGCCGGGACA	0.519																																						ENST00000031146.4																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						c.(541-552)atfs		solute carrier family 39, member 9																																				SO:0001589	frameshift_variant	55334				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr14:69925126_69925135delTGCTTTTCTC		CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"""Solute carriers"""	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.740_749delTGCTTTTCTC	14.37:g.69925126_69925135delTGCTTTTCTC	ENSP00000336887:p.Met247fs					SLC39A9_ENST00000336643.5_Frame_Shift_Del_p.MLFS247fs|SLC39A9_ENST00000556605.1_Intron|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000557046.1_Frame_Shift_Del_p.MLFS224fs	p.MLFS181fs			Q9NUM3	S39A9_HUMAN		all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)	6	1220_1229	+			247					G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Frame_Shift_Del	DEL	ENST00000336643.5	37	c.542_551delTGCTTTTCTC	CCDS9795.1																																																																																				0.519	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	NM_018375		62	195						62	195	---	---	---	---
EPX	8288	broad.mit.edu	37	17	56277000	56277000	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A49C-01A-11D-A24D-08	TCGA-CN-A49C-10B-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa6422-da7f-4d3a-ae02-a3907318b005	23e97f5d-9633-46e8-a0fd-af3d3ca5f67a	g.chr17:56277000delG	ENST00000225371.5	+	9	1492	c.1382delG	c.(1381-1383)cggfs	p.R461fs		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	461					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	GTGGACCCACGGGTGGCCAAT	0.617																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(1381-1383)cgfs		eosinophil peroxidase							100.0	83.0	89.0					17																	56277000		2203	4300	6503	SO:0001589	frameshift_variant	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56277000delG	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1382delG	17.37:g.56277000delG	ENSP00000225371:p.Arg461fs						p.R461fs	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			9	1492	+			461					Q4TVP3	Frame_Shift_Del	DEL	ENST00000225371.5	37	c.1382delG	CCDS11602.1																																																																																				0.617	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		29	45						29	45	---	---	---	---
