#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_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PRDM2	7799	broad.mit.edu	37	1	14105511	14105511	+	Silent	SNP	A	A	C			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr1:14105511A>C	ENST00000235372.7	+	8	2077	c.1221A>C	c.(1219-1221)cgA>cgC	p.R407R	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Silent_p.R206R|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Silent_p.R206R|PRDM2_ENST00000311066.5_Silent_p.R407R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	407					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R407R(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACCGGCGGCGACATGAGCGGC	0.512																																						uc001avi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1219-1221)CGA>CGC		retinoblastoma protein-binding zinc finger							66.0	64.0	65.0					1																	14105511		2203	4300	6503	SO:0001819	synonymous_variant	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14105511A>C	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1221A>C	1.37:g.14105511A>C						PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.R407R|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Silent_p.R164R|PRDM2_uc001avk.2_Silent_p.R206R|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	p.R407R	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	2077	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	407			C2H2-type 2.		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	c.1221A>C	CCDS150.1																																																																																				PASS	0.512	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		23	31	23	31	---	---	---	---
RPRD2	23248	broad.mit.edu	37	1	150429919	150429919	+	Silent	SNP	A	A	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr1:150429919A>T	ENST00000369068.4	+	8	1030	c.1026A>T	c.(1024-1026)ggA>ggT	p.G342G	RPRD2_ENST00000539519.1_Silent_p.G316G|RPRD2_ENST00000401000.4_Silent_p.G316G|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	342						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.G342G(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGGGAATGGGAGGTGAGGAAT	0.512																																						uc009wlr.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1024-1026)GGA>GGT		Regulation of nuclear pre-mRNA domain containing							177.0	170.0	173.0					1																	150429919		1933	4143	6076	SO:0001819	synonymous_variant	23248						protein binding	g.chr1:150429919A>T	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.1026A>T	1.37:g.150429919A>T						RPRD2_uc010pcc.1_Silent_p.G316G|RPRD2_uc001eup.3_Silent_p.G316G	p.G342G	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN			8	1227	+			342					A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Silent	SNP	ENST00000369068.4	37	c.1026A>T	CCDS44216.1																																																																																				PASS	0.512	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		108	244	108	244	---	---	---	---
ILF2	3608	broad.mit.edu	37	1	153635213	153635213	+	Missense_Mutation	SNP	C	C	G			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr1:153635213C>G	ENST00000361891.4	-	13	1105	c.980G>C	c.(979-981)aGg>aCg	p.R327T	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	327	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)	p.R327T(1)		cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAGGATCTTCCTAAAGCCACC	0.478																																						uc001fcr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(979-981)AGG>ACG		interleukin enhancer binding factor 2							120.0	116.0	118.0					1																	153635213		2203	4300	6503	SO:0001583	missense	3608				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity	g.chr1:153635213C>G	U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"""interleukin enhancer binding factor 2, 45kD"", ""interleukin enhancer binding factor 2, 45kDa"""			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.980G>C	1.37:g.153635213C>G	ENSP00000355011:p.Arg327Thr					ILF2_uc010pdy.1_Missense_Mutation_p.R289T|ILF2_uc009wok.2_Missense_Mutation_p.R305T	p.R327T	NM_004515	NP_004506	Q12905	ILF2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		13	1061	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		327			DZF.		A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Missense_Mutation	SNP	ENST00000361891.4	37	c.980G>C	CCDS1050.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543573	0.86022	.	.	ENSG00000143621	ENST00000361891	T	0.48836	0.8	5.38	5.38	0.77491	DZF (2);	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	L	0.59436	1.845	0.80722	D	1	P;P	0.43662	0.778;0.814	P;P	0.50270	0.503;0.636	T	0.38585	-0.9654	10	0.44086	T	0.13	-11.3792	16.6653	0.85252	0.0:1.0:0.0:0.0	.	327;327	F4ZW62;Q12905	.;ILF2_HUMAN	T	327	ENSP00000355011:R327T	ENSP00000355011:R327T	R	-	2	0	ILF2	151901837	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.659000	0.74412	2.806000	0.96561	0.655000	0.94253	AGG		PASS	0.478	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090040.1	NM_004515		4	220	4	220	---	---	---	---
LRRC71	149499	broad.mit.edu	37	1	156897713	156897713	+	Missense_Mutation	SNP	C	C	G			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr1:156897713C>G	ENST00000337428.7	+	9	1067	c.913C>G	c.(913-915)Cgc>Ggc	p.R305G	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	305								p.R305G(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						TCAGGTCCTGCGCGCCTTCGA	0.697											OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fqm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(913-915)CGC>GGC		hypothetical protein LOC149499							25.0	41.0	36.0					1																	156897713		1985	4139	6124	SO:0001583	missense	149499							g.chr1:156897713C>G	BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 92"""	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.913C>G	1.37:g.156897713C>G	ENSP00000336661:p.Arg305Gly		OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1782	C1orf92_uc001fql.2_Missense_Mutation_p.R90G	p.R305G	NM_144702	NP_653303	Q8N4P6	LRC71_HUMAN			9	1085	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		305					Q96M24	Missense_Mutation	SNP	ENST00000337428.7	37	c.913C>G	CCDS44249.1	.	.	.	.	.	.	.	.	.	.	C	6.528	0.465743	0.12402	.	.	ENSG00000160838	ENST00000337428	T	0.52526	0.66	3.87	2.94	0.34122	.	0.341651	0.22104	N	0.064572	T	0.16854	0.0405	L	0.41236	1.265	0.28409	N	0.91829	B;B	0.22480	0.033;0.07	B;B	0.20767	0.006;0.031	T	0.16364	-1.0405	10	0.21540	T	0.41	-16.4135	10.0691	0.42322	0.0:0.5988:0.4012:0.0	.	305;90	Q8N4P6;Q8N4P6-2	LRC71_HUMAN;.	G	305	ENSP00000336661:R305G	ENSP00000336661:R305G	R	+	1	0	LRRC71	155164337	1.000000	0.71417	1.000000	0.80357	0.249000	0.25844	1.894000	0.39768	0.794000	0.33899	-0.315000	0.08773	CGC		PASS	0.697	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	NM_144702		5	24	5	24	---	---	---	---
PEX19	5824	broad.mit.edu	37	1	160252819	160252819	+	Silent	SNP	G	G	A	rs146644725	byFrequency	TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr1:160252819G>A	ENST00000368072.5	-	3	282	c.261C>T	c.(259-261)ttC>ttT	p.F87F	PEX19_ENST00000532508.1_5'UTR|PEX19_ENST00000440949.3_5'UTR|DCAF8_ENST00000608310.1_5'UTR|DCAF8_ENST00000556710.1_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	87	Necessary for PEX19 function on peroxisome biogenesis.				chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)	p.F87F(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTGCCTTCTCGAACTCCGCAG	0.567													G|||	6	0.00119808	0.0008	0.0029	5008	,	,		19651	0.0		0.002	False		,,,				2504	0.001					uc001fvs.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(259-261)TTC>TTT		peroxisomal biogenesis factor 19 isoform a		G	,	7,4399	12.9+/-30.5	0,7,2196	76.0	76.0	76.0		261,261	-6.8	0.8	1	dbSNP_134	76	20,8580	15.3+/-51.7	0,20,4280	no	coding-synonymous,coding-synonymous	PEX19	NM_001193644.1,NM_002857.3	,	0,27,6476	AA,AG,GG		0.2326,0.1589,0.2076	,	87/280,87/300	160252819	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	5824				peroxisome membrane biogenesis|peroxisome organization|protein targeting to peroxisome|transmembrane transport	brush border membrane|cytosol|integral to membrane|nucleus|peroxisomal membrane	protein binding|protein N-terminus binding	g.chr1:160252819G>A	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"""housekeeping gene, 33kD"""	600279	"""peroxisomal farnesylated protein"""	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.261C>T	1.37:g.160252819G>A						DCAF8_uc010pjc.1_5'UTR|PEX19_uc010pje.1_RNA|PEX19_uc001fvt.2_5'UTR	p.F87F	NM_002857	NP_002848	P40855	PEX19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	288	-	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		87			Necessary for PEX19 function on peroxisome biogenesis.		D3DVE7|Q5QNY4|Q8NI97	Silent	SNP	ENST00000368072.5	37	c.261C>T	CCDS1201.1																																																																																				PASS	0.567	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857		4	144	4	144	---	---	---	---
PRDX6	9588	broad.mit.edu	37	1	173454500	173454500	+	Splice_Site	SNP	G	G	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr1:173454500G>T	ENST00000340385.5	+	3	385	c.253G>T	c.(253-255)Gat>Tat	p.D85Y	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	85	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				hydrogen peroxide catabolic process (GO:0042744)|phospholipid catabolic process (GO:0009395)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)	antioxidant activity (GO:0016209)|glutathione peroxidase activity (GO:0004602)|peroxiredoxin activity (GO:0051920)|phospholipase A2 activity (GO:0004623)	p.D85Y(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						TGTGTTTCAGGATATCAATGC	0.443																																						uc001giy.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(253-255)GAT>TAT		peroxiredoxin 6							135.0	126.0	129.0					1																	173454500		2203	4300	6503	SO:0001630	splice_region_variant	9588				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding	g.chr1:173454500G>T	D14662	CCDS1307.1	1q24.1	2008-02-05			ENSG00000117592	ENSG00000117592			16753	protein-coding gene	gene with protein product		602316				11233154	Standard	NM_004905		Approved	AOP2, KIAA0106, 1-Cys, NSGPx, PRX, aiPLA2, MGC46173, p29	uc001giy.1	P30041	OTTHUMG00000034804	ENST00000340385.5:c.253-1G>T	1.37:g.173454500G>T							p.D85Y	NM_004905	NP_004896	P30041	PRDX6_HUMAN			3	304	+			85			Thioredoxin.		A8JZY7|P32077|Q5TAH4|Q5ZEZ8	Missense_Mutation	SNP	ENST00000340385.5	37	c.253G>T	CCDS1307.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492527	0.84962	.	.	ENSG00000117592	ENST00000340385	T	0.33654	1.4	5.27	5.27	0.74061	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.73776	0.3630	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85140	0.0980	9	.	.	.	-23.0201	18.0125	0.89229	0.0:0.0:1.0:0.0	.	85	P30041	PRDX6_HUMAN	Y	85	ENSP00000342026:D85Y	.	D	+	1	0	PRDX6	171721123	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.713000	0.91408	2.614000	0.88457	0.650000	0.86243	GAT		PASS	0.443	PRDX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084222.1	NM_004905	Missense_Mutation	11	110	11	110	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175325553	175325553	+	Missense_Mutation	SNP	C	C	A	rs112059746	byFrequency	TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr1:175325553C>A	ENST00000367674.2	-	16	3728	c.3020G>T	c.(3019-3021)cGg>cTg	p.R1007L	TNR_ENST00000263525.2_Missense_Mutation_p.R1007L			Q92752	TENR_HUMAN	tenascin R	1007	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.R1007L(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTCAACAAGCCGAAATTCCTC	0.473																																						uc001gkp.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(3019-3021)CGG>CTG		tenascin R precursor							196.0	157.0	171.0					1																	175325553		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175325553C>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3020G>T	1.37:g.175325553C>A	ENSP00000356646:p.Arg1007Leu					TNR_uc009wwu.1_Missense_Mutation_p.R1007L	p.R1007L	NM_003285	NP_003276	Q92752	TENR_HUMAN			14	3101	-	Renal(580;0.146)		1007			Fibronectin type-III 8.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.3020G>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313485	0.40996	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.56611	0.45;0.45	5.67	3.19	0.36642	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.063421	0.64402	D	0.000004	T	0.35740	0.0942	L	0.29908	0.895	0.33594	D	0.601508	B	0.02656	0.0	B	0.06405	0.002	T	0.33752	-0.9856	10	0.28530	T	0.3	.	7.3912	0.26911	0.1281:0.0711:0.0:0.8008	.	1007	Q92752	TENR_HUMAN	L	1007;1007;917	ENSP00000356646:R1007L;ENSP00000263525:R1007L	ENSP00000263525:R1007L	R	-	2	0	TNR	173592176	1.000000	0.71417	0.998000	0.56505	0.515000	0.34225	3.123000	0.50453	0.400000	0.25396	-0.290000	0.09829	CGG		PASS	0.473	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		107	60	107	60	---	---	---	---
NMNAT2	23057	broad.mit.edu	37	1	183253165	183253165	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr1:183253165G>A	ENST00000287713.6	-	7	873	c.539C>T	c.(538-540)gCc>gTc	p.A180V	NMNAT2_ENST00000473046.1_5'UTR|NMNAT2_ENST00000294868.4_Missense_Mutation_p.A175V	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	180					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)	p.A180V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						GCCCAGATTGGCATTCTCATC	0.527																																						uc001gqc.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(538-540)GCC>GTC		nicotinamide mononucleotide adenylyltransferase							138.0	115.0	123.0					1																	183253165		2203	4300	6503	SO:0001583	missense	23057				water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	g.chr1:183253165G>A	AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"""chromosome 1 open reading frame 15"""	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.539C>T	1.37:g.183253165G>A	ENSP00000287713:p.Ala180Val					NMNAT2_uc001gqb.1_Missense_Mutation_p.A175V|NMNAT2_uc001gqd.2_Missense_Mutation_p.A75V	p.A180V	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN			7	874	-			180					O75067|Q5T1Q3|Q8WU99|Q96QW1	Missense_Mutation	SNP	ENST00000287713.6	37	c.539C>T	CCDS1353.1	.	.	.	.	.	.	.	.	.	.	G	35	5.444370	0.96187	.	.	ENSG00000157064	ENST00000287713;ENST00000294868	D;D	0.97480	-4.4;-4.26	5.71	5.71	0.89125	Cytidylyltransferase (1);	0.844592	0.11057	N	0.604409	D	0.97099	0.9052	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.996	D;D;D	0.91635	0.999;0.983;0.99	D	0.93845	0.7140	10	0.12766	T	0.61	-9.0264	19.4529	0.94875	0.0:0.0:1.0:0.0	.	180;180;175	A8K5S5;Q9BZQ4;Q9BZQ4-2	.;NMNA2_HUMAN;.	V	180;175	ENSP00000287713:A180V;ENSP00000294868:A175V	ENSP00000287713:A180V	A	-	2	0	NMNAT2	181519788	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.729000	0.91490	2.687000	0.91594	0.655000	0.94253	GCC		PASS	0.527	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086255.1			37	156	37	156	---	---	---	---
FAM129A	116496	broad.mit.edu	37	1	184764867	184764867	+	Silent	SNP	C	C	T	rs542770537		TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr1:184764867C>T	ENST00000367511.3	-	14	2224	c.2031G>A	c.(2029-2031)ccG>ccA	p.P677P	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	677					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.P677P(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						AGCATGTGCCCGGGAGTCCTG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		17578	0.0		0.001	False		,,,				2504	0.0					uc001gra.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(2029-2031)CCG>CCA		niban protein isoform 2							62.0	54.0	57.0					1																	184764867		2203	4300	6503	SO:0001819	synonymous_variant	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184764867C>T	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2031G>A	1.37:g.184764867C>T						FAM129A_uc001grb.1_Intron	p.P677P	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN			14	2225	-			677					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Silent	SNP	ENST00000367511.3	37	c.2031G>A	CCDS1364.1																																																																																				PASS	0.577	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			31	71	31	71	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197073677	197073677	+	Silent	SNP	T	T	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr1:197073677T>A	ENST00000367409.4	-	18	4960	c.4704A>T	c.(4702-4704)tcA>tcT	p.S1568S	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1568					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.S1568S(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCTCCAGTATGACTGAATAA	0.358																																						uc001gtu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(4702-4704)TCA>TCT		asp (abnormal spindle)-like, microcephaly							79.0	74.0	76.0					1																	197073677		2203	4299	6502	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197073677T>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4704A>T	1.37:g.197073677T>A						ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	p.S1568S	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	4961	-			1568					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.4704A>T	CCDS1389.1																																																																																				PASS	0.358	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		17	56	17	56	---	---	---	---
HHIPL2	79802	broad.mit.edu	37	1	222721202	222721202	+	Missense_Mutation	SNP	G	G	C			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr1:222721202G>C	ENST00000343410.6	-	1	243	c.185C>G	c.(184-186)tCt>tGt	p.S62C		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	62					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.S62C(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CTCATAGTCAGAGCAAAACTC	0.562																																						uc001hnh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(184-186)TCT>TGT		HHIP-like 2 precursor							36.0	38.0	37.0					1																	222721202		1919	4125	6044	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222721202G>C	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.185C>G	1.37:g.222721202G>C	ENSP00000342118:p.Ser62Cys						p.S62C	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	1	243	-			62					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.185C>G	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163103	0.57476	.	.	ENSG00000143512	ENST00000343410	T	0.57907	0.37	4.93	3.99	0.46301	Folate receptor-like (1);	0.201607	0.42682	D	0.000663	T	0.73799	0.3633	M	0.85197	2.74	0.30804	N	0.739607	D	0.69078	0.997	D	0.68353	0.957	T	0.78450	-0.2199	10	0.66056	D	0.02	-12.263	15.0283	0.71687	0.0:0.1431:0.8569:0.0	.	62	Q6UWX4	HIPL2_HUMAN	C	62	ENSP00000342118:S62C	ENSP00000342118:S62C	S	-	2	0	HHIPL2	220787825	0.991000	0.36638	0.979000	0.43373	0.960000	0.62799	2.357000	0.44125	1.005000	0.39183	0.655000	0.94253	TCT		PASS	0.562	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		5	61	5	61	---	---	---	---
PXDN	7837	broad.mit.edu	37	2	1653341	1653341	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr2:1653341G>T	ENST00000252804.4	-	17	2261	c.2211C>A	c.(2209-2211)ttC>ttA	p.F737L		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	737					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.F737L(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACTTCTGGTGGAAGCACATGT	0.612																																						uc002qxa.2																			1	Substitution - Missense(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(2209-2211)TTC>TTA		peroxidasin precursor							105.0	112.0	109.0					2																	1653341		2073	4201	6274	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1653341G>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2211C>A	2.37:g.1653341G>T	ENSP00000252804:p.Phe737Leu						p.F737L	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2275	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	737					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.2211C>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763411	0.69763	.	.	ENSG00000130508	ENST00000252804	T	0.71698	-0.59	5.63	3.63	0.41609	.	0.000000	0.85682	D	0.000000	T	0.73621	0.3610	L	0.60455	1.87	0.52501	D	0.999956	P	0.40431	0.717	P	0.51866	0.682	T	0.70949	-0.4733	10	0.35671	T	0.21	-47.617	9.5934	0.39559	0.3445:0.0:0.6555:0.0	.	737	Q92626	PXDN_HUMAN	L	737	ENSP00000252804:F737L	ENSP00000252804:F737L	F	-	3	2	PXDN	1632348	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.031000	0.41117	1.226000	0.43582	0.558000	0.71614	TTC		PASS	0.612	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		19	180	19	180	---	---	---	---
RRM2	6241	broad.mit.edu	37	2	10267220	10267220	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr2:10267220G>A	ENST00000304567.5	+	7	740	c.671G>A	c.(670-672)cGt>cAt	p.R224H	RRM2_ENST00000360566.2_Missense_Mutation_p.R284H	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	224					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.R284H(1)|p.R224H(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	ATAGGTGAACGTGTTGTAGCC	0.423																																						uc002rah.2																			2	Substitution - Missense(2)		lung(2)		0						c.(670-672)CGT>CAT		ribonucleotide reductase M2 polypeptide isoform							237.0	210.0	219.0					2																	10267220		2203	4300	6503	SO:0001583	missense	6241				deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr2:10267220G>A		CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"""ribonucleotide reductase M2 polypeptide"""				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.671G>A	2.37:g.10267220G>A	ENSP00000302955:p.Arg224His						p.R224H	NM_001034	NP_001025	P31350	RIR2_HUMAN		Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	7	862	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		224					B2R9B5|J3KP43|Q5WRU7	Missense_Mutation	SNP	ENST00000304567.5	37	c.671G>A	CCDS1669.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054212	0.93793	.	.	ENSG00000171848	ENST00000360566;ENST00000304567;ENST00000474701	D;D;D	0.97994	-4.65;-4.65;-4.65	5.19	5.19	0.71726	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	0.000000	0.85682	D	0.000000	D	0.99441	0.9802	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97907	1.0306	10	0.87932	D	0	-5.0336	18.72	0.91689	0.0:0.0:1.0:0.0	.	224	P31350	RIR2_HUMAN	H	284;224;174	ENSP00000353770:R284H;ENSP00000302955:R224H;ENSP00000419177:R174H	ENSP00000302955:R224H	R	+	2	0	RRM2	10184671	1.000000	0.71417	0.941000	0.38009	0.819000	0.46315	9.734000	0.98822	2.422000	0.82143	0.650000	0.86243	CGT		PASS	0.423	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364902.2			93	153	93	153	---	---	---	---
ZNF513	130557	broad.mit.edu	37	2	27601720	27601720	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr2:27601720G>A	ENST00000323703.6	-	3	611	c.413C>T	c.(412-414)cCg>cTg	p.P138L	ZNF513_ENST00000491924.1_Intron|ZNF513_ENST00000407879.1_Missense_Mutation_p.P76L	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	138	Gly-rich.				regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.P138L(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCCCACCCGGCCCTCCTGC	0.706																																						uc002rkk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(412-414)CCG>CTG		zinc finger protein 513							9.0	12.0	11.0					2																	27601720		2188	4276	6464	SO:0001583	missense	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27601720G>A	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.413C>T	2.37:g.27601720G>A	ENSP00000318373:p.Pro138Leu					ZNF513_uc002rkj.2_Missense_Mutation_p.P76L	p.P138L	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN			3	613	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		138			Gly-rich.		A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	ENST00000323703.6	37	c.413C>T	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353204	0.24512	.	.	ENSG00000163795	ENST00000323703;ENST00000407879;ENST00000436006	T;T;T	0.56611	3.18;3.12;0.45	4.35	4.35	0.52113	.	0.000000	0.47455	D	0.000236	T	0.22936	0.0554	N	0.08118	0	0.44373	D	0.997279	P	0.52692	0.955	B	0.29785	0.107	T	0.07635	-1.0762	10	0.28530	T	0.3	-7.8058	10.3059	0.43680	0.0:0.2002:0.7998:0.0	.	138	Q8N8E2	ZN513_HUMAN	L	138;76;76	ENSP00000318373:P138L;ENSP00000384874:P76L;ENSP00000394226:P76L	ENSP00000318373:P138L	P	-	2	0	ZNF513	27455224	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.291000	0.43540	2.263000	0.75096	0.462000	0.41574	CCG		PASS	0.706	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		4	14	4	14	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33246095	33246095	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr2:33246095C>T	ENST00000404816.2	+	3	1038	c.685C>T	c.(685-687)Cca>Tca	p.P229S	LTBP1_ENST00000354476.3_Missense_Mutation_p.P229S			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	229					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.P229S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CACCTCGTCACCAGTCTTTGG	0.552																																						uc002ros.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(685-687)CCA>TCA		latent transforming growth factor beta binding							128.0	131.0	130.0					2																	33246095		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33246095C>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.685C>T	2.37:g.33246095C>T	ENSP00000386043:p.Pro229Ser						p.P229S	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			3	685	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	229					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.685C>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	5.882	0.346801	0.11126	.	.	ENSG00000049323	ENST00000404816;ENST00000354476	T;T	0.81415	-1.49;-1.49	4.99	0.0812	0.14424	.	.	.	.	.	T	0.76414	0.3984	M	0.80508	2.5	0.22199	N	0.999291	B	0.02656	0.0	B	0.04013	0.001	T	0.67745	-0.5591	9	0.66056	D	0.02	.	2.7643	0.05316	0.4466:0.309:0.1359:0.1085	.	229	Q14766-4	.	S	229	ENSP00000386043:P229S;ENSP00000346467:P229S	ENSP00000346467:P229S	P	+	1	0	LTBP1	33099599	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.128000	0.10531	0.172000	0.19760	0.637000	0.83480	CCA		PASS	0.552	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		108	156	108	156	---	---	---	---
PIGF	5281	broad.mit.edu	37	2	46842099	46842099	+	Missense_Mutation	SNP	T	T	C			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr2:46842099T>C	ENST00000281382.6	-	2	375	c.205A>G	c.(205-207)Aaa>Gaa	p.K69E	PIGF_ENST00000306465.4_Missense_Mutation_p.K69E|PIGF_ENST00000495933.1_5'UTR|CRIPT_ENST00000238892.3_5'Flank	NM_002643.3	NP_002634.1	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class F	69					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)	p.K69E(1)		breast(1)|endometrium(1)|lung(1)|stomach(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GAACTTCTTTTAGAGGATGTA	0.328																																						uc002rvd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(205-207)AAA>GAA		phosphatidylinositol glycan anchor biosynthesis,							55.0	58.0	57.0					2																	46842099		2203	4300	6503	SO:0001583	missense	5281				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity	g.chr2:46842099T>C		CCDS1827.1, CCDS1828.1	2p21-p16	2013-02-26	2006-06-28		ENSG00000151665	ENSG00000151665		"""Phosphatidylinositol glycan anchor biosynthesis"""	8962	protein-coding gene	gene with protein product		600153	"""phosphatidylinositol glycan, class F"""			8575782, 8463218	Standard	NM_173074		Approved		uc002rvd.3	Q07326	OTTHUMG00000128816	ENST00000281382.6:c.205A>G	2.37:g.46842099T>C	ENSP00000281382:p.Lys69Glu					PIGF_uc002rvc.2_Missense_Mutation_p.K69E|CRIPT_uc002rve.2_5'Flank	p.K69E	NM_002643	NP_002634	Q07326	PIGF_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	369	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	69					Q8WW20	Missense_Mutation	SNP	ENST00000281382.6	37	c.205A>G	CCDS1827.1	.	.	.	.	.	.	.	.	.	.	T	19.44	3.827169	0.71143	.	.	ENSG00000151665	ENST00000281382;ENST00000306465	.	.	.	5.28	5.28	0.74379	.	0.098188	0.64402	D	0.000002	T	0.59046	0.2165	M	0.68317	2.08	0.54753	D	0.999989	B;P	0.46395	0.338;0.877	B;B	0.42214	0.239;0.38	T	0.65397	-0.6178	9	0.56958	D	0.05	-8.8342	15.1697	0.72862	0.0:0.0:0.0:1.0	.	69;69	Q07326;Q07326-2	PIGF_HUMAN;.	E	69	.	ENSP00000281382:K69E	K	-	1	0	PIGF	46695603	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.598000	0.74122	2.107000	0.64212	0.528000	0.53228	AAA		PASS	0.328	PIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250749.2	NM_173074		32	27	32	27	---	---	---	---
FOXN2	3344	broad.mit.edu	37	2	48602579	48602579	+	Silent	SNP	A	A	G			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr2:48602579A>G	ENST00000340553.3	+	7	1554	c.1293A>G	c.(1291-1293)aaA>aaG	p.K431K		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	431					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K431K(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			AACGGAAAAAATAGAAATACT	0.378																																						uc002rwh.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1291-1293)AAA>AAG		T-cell leukemia virus enhancer factor							20.0	22.0	21.0					2																	48602579		2200	4294	6494	SO:0001819	synonymous_variant	3344				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:48602579A>G		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.1293A>G	2.37:g.48602579A>G							p.K431K	NM_002158	NP_002149	P32314	FOXN2_HUMAN	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)		7	1608	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	431					Q15769|Q6P4Q2	Silent	SNP	ENST00000340553.3	37	c.1293A>G	CCDS1838.1																																																																																				PASS	0.378	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	NM_002158		14	8	14	8	---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49295406	49295406	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr2:49295406C>T	ENST00000406846.2	-	2	295	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	FSHR_ENST00000346173.3_Missense_Mutation_p.R59Q|FSHR_ENST00000304421.4_Missense_Mutation_p.R59Q	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	59					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.R59Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TTGGATGACTCGAAGCTTGGT	0.418									Gonadal Dysgenesis, 46 XX																													uc002rww.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(175-177)CGA>CAA		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						122.0	118.0	120.0					2																	49295406		2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49295406C>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.176G>A	2.37:g.49295406C>T	ENSP00000384708:p.Arg59Gln					FSHR_uc002rwx.2_Missense_Mutation_p.R59Q|FSHR_uc010fbn.2_Missense_Mutation_p.R59Q|FSHR_uc010fbo.1_RNA	p.R59Q	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		2	250	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	59			Extracellular (Potential).|LRR 1.		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.176G>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430801	0.43122	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	4.86	-1.67	0.08238	.	0.431385	0.21060	N	0.080844	T	0.64068	0.2565	L	0.39397	1.21	0.80722	D	1	B;B;B	0.30763	0.051;0.294;0.097	B;B;B	0.13407	0.003;0.009;0.002	T	0.48864	-0.8997	9	.	.	.	.	8.6528	0.34044	0.0:0.3945:0.0:0.6055	.	59;59;59	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	Q	59	ENSP00000384708:R59Q;ENSP00000333908:R59Q;ENSP00000306780:R59Q;ENSP00000415504:R59Q	.	R	-	2	0	FSHR	49148910	0.731000	0.28111	0.992000	0.48379	0.977000	0.68977	-0.719000	0.04974	-0.205000	0.10219	0.462000	0.41574	CGA		PASS	0.418	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			92	109	92	109	---	---	---	---
KIAA1841	84542	broad.mit.edu	37	2	61333753	61333753	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr2:61333753G>A	ENST00000402291.1	+	14	1808	c.1567G>A	c.(1567-1569)Gag>Aag	p.E523K	KIAA1841_ENST00000356719.2_Missense_Mutation_p.E523K|KIAA1841_ENST00000295031.5_Missense_Mutation_p.E523K|KIAA1841_ENST00000453873.1_Missense_Mutation_p.E523K	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	523								p.E523K(2)		breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TGTTTTACTGGAGCCAAATAC	0.348																																						uc002saw.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1567-1569)GAG>AAG		KIAA1841 protein isoform a							130.0	146.0	140.0					2																	61333753		2203	4300	6503	SO:0001583	missense	84542							g.chr2:61333753G>A	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1567G>A	2.37:g.61333753G>A	ENSP00000385579:p.Glu523Lys					KIAA1841_uc002sax.3_Missense_Mutation_p.E377K|KIAA1841_uc002say.2_Missense_Mutation_p.E523K	p.E523K	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		14	1870	+			523					Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	c.1567G>A	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606231	0.87157	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.63	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.73164	0.3552	M	0.67953	2.075	0.58432	D	0.999993	D;D	0.65815	0.995;0.991	D;P	0.63703	0.917;0.828	T	0.70335	-0.4900	9	0.12766	T	0.61	-21.5654	15.7015	0.77544	0.0:0.1376:0.8624:0.0	.	523;523	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	K	523	.	ENSP00000295031:E523K	E	+	1	0	KIAA1841	61187257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.010000	0.76353	1.467000	0.48044	0.585000	0.79938	GAG		PASS	0.348	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		148	173	148	173	---	---	---	---
DCTN1	1639	broad.mit.edu	37	2	74605229	74605229	+	Silent	SNP	G	G	A	rs72466484		TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr2:74605229G>A	ENST00000361874.3	-	2	494	c.177C>T	c.(175-177)ggC>ggT	p.G59G	DCTN1_ENST00000409240.1_Silent_p.G42G|DCTN1_ENST00000409868.1_Silent_p.G42G|DCTN1_ENST00000409567.3_Silent_p.G59G|DCTN1_ENST00000394003.3_Silent_p.G59G	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	59	CAP-Gly. {ECO:0000255|PROSITE- ProRule:PRU00045}.		G -> S (in HMN7B; shows a modestly reduced affinity for microtubules which has been suggested to impair axonal transport; the effect is identical to that of complete loss of the CAP-Gly domain). {ECO:0000269|PubMed:12627231}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.G59G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCAGAATCACGCCTACCCATT	0.537																																						uc002skx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(175-177)GGC>GGT		dynactin 1 isoform 1							190.0	152.0	165.0					2																	74605229		2203	4300	6503	SO:0001819	synonymous_variant	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74605229G>A		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.177C>T	2.37:g.74605229G>A						DCTN1_uc002skw.1_Silent_p.G42G|DCTN1_uc010ffd.2_Silent_p.G59G|DCTN1_uc002sky.2_Silent_p.G42G	p.G59G	NM_004082	NP_004073	Q14203	DCTN1_HUMAN			2	488	-			59		G -> S (in HMN7B; shows a modestly reduced affinity for microtubules which has been suggested to impair axonal transport; the effect is identical to that of complete loss of the CAP-Gly domain).	CAP-Gly.		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	ENST00000361874.3	37	c.177C>T	CCDS1939.1																																																																																				PASS	0.537	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		73	76	73	76	---	---	---	---
KIAA1211L	343990	broad.mit.edu	37	2	99438711	99438711	+	Silent	SNP	C	C	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr2:99438711C>A	ENST00000397899.2	-	7	2356	c.2025G>T	c.(2023-2025)ccG>ccT	p.P675P		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	675								p.P675P(1)									TGTCCTCACTCGGGGCCGGCT	0.711																																						uc002szf.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(2023-2025)CCG>CCT		hypothetical protein LOC343990							24.0	28.0	26.0					2																	99438711		1909	4100	6009	SO:0001819	synonymous_variant	343990							g.chr2:99438711C>A	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.2025G>T	2.37:g.99438711C>A							p.P675P	NM_207362	NP_997245	Q6NV74	CB055_HUMAN			7	2319	-			675						Silent	SNP	ENST00000397899.2	37	c.2025G>T	CCDS42720.1																																																																																				PASS	0.711	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		17	26	17	26	---	---	---	---
BUB1	699	broad.mit.edu	37	2	111399373	111399373	+	Missense_Mutation	SNP	T	T	G			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr2:111399373T>G	ENST00000302759.6	-	21	2589	c.2471A>C	c.(2470-2472)aAg>aCg	p.K824T	BUB1_ENST00000535254.1_Missense_Mutation_p.K804T|BUB1_ENST00000409311.1_Missense_Mutation_p.K824T|BUB1_ENST00000478175.1_5'UTR	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	824	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K824T(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GTTGGCAGGCTTTTGGACCTG	0.403																																						uc002tgc.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7						c.(2470-2472)AAG>ACG		budding uninhibited by benzimidazoles 1							139.0	151.0	147.0					2																	111399373		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111399373T>G	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2471A>C	2.37:g.111399373T>G	ENSP00000302530:p.Lys824Thr					BUB1_uc010yxh.1_Missense_Mutation_p.K804T|BUB1_uc010fkb.2_Missense_Mutation_p.K824T	p.K824T	NM_004336	NP_004327	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	21	2583	-		Ovarian(717;0.0822)	824			Protein kinase.		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.2471A>C	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.973264	0.74246	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759	T;T;T	0.68181	-0.31;2.01;-0.31	6.16	4.98	0.66077	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.044386	0.85682	D	0.000000	T	0.76976	0.4063	M	0.64080	1.96	0.53688	D	0.99997	D;D;D	0.76494	0.984;0.999;0.992	D;D;D	0.72625	0.923;0.952;0.978	T	0.74598	-0.3612	10	0.32370	T	0.25	-22.807	11.6494	0.51279	0.0:0.0703:0.0:0.9297	.	804;824;824	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	T	804;824;824	ENSP00000441013:K804T;ENSP00000386701:K824T;ENSP00000302530:K824T	ENSP00000302530:K824T	K	-	2	0	BUB1	111115845	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.944000	0.56629	1.104000	0.41587	0.528000	0.53228	AAG		PASS	0.403	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		66	245	66	245	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168102627	168102627	+	Missense_Mutation	SNP	T	T	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr2:168102627T>A	ENST00000409195.1	+	9	4814	c.4725T>A	c.(4723-4725)gaT>gaA	p.D1575E	XIRP2_ENST00000295237.9_Missense_Mutation_p.D1575E|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1353E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1400					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.D1575E(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTGAAGCTGATGAAATAGGGG	0.358																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(4723-4725)GAT>GAA		xin actin-binding repeat containing 2 isoform 1							45.0	42.0	43.0					2																	168102627		1824	4087	5911	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102627T>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4725T>A	2.37:g.168102627T>A	ENSP00000386840:p.Asp1575Glu					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D1400E|XIRP2_uc010fpq.2_Missense_Mutation_p.D1353E|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.D1575E	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	4743	+			1400					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.4725T>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.505122	0.44558	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02709	4.2;4.2;4.19	5.56	4.4	0.53042	.	0.210057	0.47455	D	0.000232	T	0.04998	0.0134	L	0.45137	1.4	0.58432	D	0.999995	P;P;D	0.55385	0.799;0.873;0.971	B;B;P	0.47827	0.079;0.164;0.558	T	0.41840	-0.9486	10	0.59425	D	0.04	-7.4929	10.7097	0.45975	0.0:0.0764:0.0:0.9236	.	1400;1400;1353	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	1575;1575;1353	ENSP00000386840:D1575E;ENSP00000295237:D1575E;ENSP00000387255:D1353E	ENSP00000295237:D1575E	D	+	3	2	XIRP2	167810873	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.290000	0.51755	0.945000	0.37605	-0.400000	0.06385	GAT		PASS	0.358	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		18	57	18	57	---	---	---	---
HOXD3	3232	broad.mit.edu	37	2	177015104	177015104	+	5'Flank	SNP	G	G	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr2:177015104G>A	ENST00000468418.3	+	0	0				HOXD4_ENST00000306324.3_5'Flank|MIR10B_ENST00000385011.1_RNA			P31249	HXD3_HUMAN	homeobox D3						anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		TCACAGATTCGATTCTAGGGG	0.478																																						hsa-mir-10b|MI0000267																			0					0															85.0	77.0	79.0					2																	177015104		1568	3582	5150	SO:0001631	upstream_gene_variant	406903							g.chr2:177015104G>A		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517		2.37:g.177015104G>A	Exception_encountered					uc010zey.1_RNA|HOXD4_uc002uks.2_5'Flank										+								Q99955|Q9BSC5	RNA	SNP	ENST00000468418.3	37	c.74G>A	CCDS2270.1																																																																																				PASS	0.478	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			15	41	15	41	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179528601	179528601	+	Intron	SNP	G	G	A	rs555029471		TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr2:179528601G>A	ENST00000591111.1	-	154	34489				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.R12131R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTCTCTTCGCGGATAACCT	0.423																																						uc010zfk.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(829-831)CGC>CGT		SubName: Full=Titin; Flags: Fragment;							302.0	279.0	286.0					2																	179528601		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179528601G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34265-5080C>T	2.37:g.179528601G>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	p.R277R			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		15	1379	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.831C>T		.	.	.	.	.	.	.	.	.	.	G	3.244	-0.154643	0.06544	.	.	ENSG00000155657	ENST00000425332	.	.	.	4.73	-2.3	0.06785	.	.	.	.	.	T	0.25005	0.0607	.	.	.	0.31270	N	0.691856	.	.	.	.	.	.	T	0.37478	-0.9704	4	.	.	.	.	1.5619	0.02596	0.4299:0.1025:0.2781:0.1895	.	.	.	.	V	195	.	.	A	-	2	0	TTN	179236846	0.000000	0.05858	0.858000	0.33744	0.001000	0.01503	-3.549000	0.00434	-0.012000	0.14223	-1.445000	0.01065	GCG		PASS	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		79	319	79	319	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185801424	185801424	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr2:185801424C>A	ENST00000302277.6	+	4	1895	c.1301C>A	c.(1300-1302)tCt>tAt	p.S434Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	434							metal ion binding (GO:0046872)	p.S434Y(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAACACAGATCTACAGTTCTT	0.353																																						uc002uph.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1300-1302)TCT>TAT		zinc finger protein 804A							121.0	128.0	126.0					2																	185801424		2203	4299	6502	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185801424C>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1301C>A	2.37:g.185801424C>A	ENSP00000303252:p.Ser434Tyr						p.S434Y	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	1895	+			434					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.1301C>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464537	0.43736	.	.	ENSG00000170396	ENST00000302277	T	0.09163	3.01	5.6	5.6	0.85130	.	0.120373	0.38005	N	0.001849	T	0.35307	0.0927	M	0.78049	2.395	0.34055	D	0.656584	D	0.76494	0.999	D	0.65573	0.936	T	0.47598	-0.9105	10	0.87932	D	0	-10.1815	18.5921	0.91217	0.0:1.0:0.0:0.0	.	434	Q7Z570	Z804A_HUMAN	Y	434	ENSP00000303252:S434Y	ENSP00000303252:S434Y	S	+	2	0	ZNF804A	185509669	0.897000	0.30589	0.339000	0.25562	0.367000	0.29736	2.481000	0.45215	2.642000	0.89623	0.591000	0.81541	TCT		PASS	0.353	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		103	137	103	137	---	---	---	---
PPIL3	53938	broad.mit.edu	37	2	201746158	201746158	+	Missense_Mutation	SNP	T	T	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr2:201746158T>A	ENST00000392283.4	-	5	494	c.226A>T	c.(226-228)Agt>Tgt	p.S76C	PPIL3_ENST00000409361.1_Missense_Mutation_p.S72C|PPIL3_ENST00000465823.1_5'UTR|PPIL3_ENST00000409449.1_Missense_Mutation_p.S80C|RNU6-312P_ENST00000364629.1_RNA|PPIL3_ENST00000286175.8_Missense_Mutation_p.S80C	NM_130906.2	NP_570981.1	Q9H2H8	PPIL3_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 3	76	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.S76C(1)|p.S80C(1)		endometrium(1)|lung(2)	3						AGATATTCACTGTATTCATCC	0.333																																						uc002uwh.2																			2	Substitution - Missense(2)		lung(2)		0						c.(226-228)AGT>TGT		peptidylprolyl isomerase-like 3 isoform PPIL3b							162.0	145.0	151.0					2																	201746158		2203	4300	6503	SO:0001583	missense	53938				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr2:201746158T>A	AF251049	CCDS2332.1, CCDS2333.1	2q33.1	2008-02-05			ENSG00000240344	ENSG00000240344			9262	protein-coding gene	gene with protein product	"""Cyclophilin J"""	615811				11435694	Standard	NM_032472		Approved	CyPJ	uc002uwi.3	Q9H2H8	OTTHUMG00000132782	ENST00000392283.4:c.226A>T	2.37:g.201746158T>A	ENSP00000376107:p.Ser76Cys					PPIL3_uc002uwi.2_Missense_Mutation_p.S80C|PPIL3_uc002uwj.2_Silent_p.T44T|PPIL3_uc002uwk.2_Missense_Mutation_p.S76C	p.S76C	NM_130906	NP_570981	Q9H2H8	PPIL3_HUMAN			5	467	-			76			PPIase cyclophilin-type.		Q86WF9|Q96IA9|Q9BXZ1	Missense_Mutation	SNP	ENST00000392283.4	37	c.226A>T	CCDS2333.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.769195	0.90020	.	.	ENSG00000240344	ENST00000286175;ENST00000392283;ENST00000409264;ENST00000409361;ENST00000409449;ENST00000457063	T;T;T;T;T;T	0.44881	1.89;1.89;1.89;1.89;1.89;0.91	5.65	5.65	0.86999	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.037569	0.85682	D	0.000000	T	0.59500	0.2198	M	0.77616	2.38	0.80722	D	1	D;P	0.59767	0.986;0.952	P;P	0.54312	0.653;0.748	T	0.65434	-0.6169	10	0.66056	D	0.02	.	15.8717	0.79127	0.0:0.0:0.0:1.0	.	80;76	Q9H2H8-2;Q9H2H8	.;PPIL3_HUMAN	C	80;76;95;72;80;76	ENSP00000286175:S80C;ENSP00000376107:S76C;ENSP00000386893:S95C;ENSP00000386235:S72C;ENSP00000387012:S80C;ENSP00000401196:S76C	ENSP00000286175:S80C	S	-	1	0	PPIL3	201454403	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.003000	0.76310	2.143000	0.66587	0.379000	0.24179	AGT		PASS	0.333	PPIL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256190.3			144	38	144	38	---	---	---	---
PTH2R	5746	broad.mit.edu	37	2	209292980	209292980	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr2:209292980G>T	ENST00000272847.2	+	2	343	c.130G>T	c.(130-132)Gcg>Tcg	p.A44S	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	44					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)	p.A44S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TGTGCTGAAAGCGAAAGTACA	0.403																																						uc002vdb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(130-132)GCG>TCG		parathyroid hormone 2 receptor precursor							111.0	94.0	100.0					2																	209292980		2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209292980G>T	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.130G>T	2.37:g.209292980G>T	ENSP00000272847:p.Ala44Ser					PTH2R_uc010zjb.1_Missense_Mutation_p.A55S	p.A44S	NM_005048	NP_005039	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	2	343	+			44			Extracellular (Potential).		Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.130G>T	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028097	0.75390	.	.	ENSG00000144407	ENST00000272847	T	0.54479	0.57	5.28	5.28	0.74379	.	.	.	.	.	T	0.71082	0.3298	M	0.73962	2.25	0.45129	D	0.998147	D	0.67145	0.996	D	0.73380	0.98	T	0.67914	-0.5547	9	0.29301	T	0.29	.	16.7583	0.85506	0.0:0.0:1.0:0.0	.	44	P49190	PTH2R_HUMAN	S	44	ENSP00000272847:A44S	ENSP00000272847:A44S	A	+	1	0	PTH2R	209001225	1.000000	0.71417	0.997000	0.53966	0.644000	0.38419	5.692000	0.68256	2.646000	0.89796	0.591000	0.81541	GCG		PASS	0.403	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		3	47	3	47	---	---	---	---
ALCAM	214	broad.mit.edu	37	3	105250904	105250904	+	Silent	SNP	A	A	G	rs371767685		TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr3:105250904A>G	ENST00000306107.5	+	4	953	c.453A>G	c.(451-453)ctA>ctG	p.L151L	ALCAM_ENST00000389927.4_5'Flank|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Silent_p.L100L|ALCAM_ENST00000472644.2_Silent_p.L151L	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	151	Ig-like V-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)	p.L151L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CAGAGCAGCTAAAAAAGGTAA	0.343																																						uc003dvx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(451-453)CTA>CTG		activated leukocyte cell adhesion molecule		A		1,4405		0,1,2202	125.0	133.0	130.0		453	-5.0	0.8	3		130	0,8600		0,0,4300	no	coding-synonymous	ALCAM	NM_001627.3		0,1,6502	GG,GA,AA		0.0,0.0227,0.0077		151/584	105250904	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105250904A>G	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.453A>G	3.37:g.105250904A>G						ALCAM_uc003dvw.1_Silent_p.L151L|ALCAM_uc003dvy.2_Silent_p.L151L|ALCAM_uc011bhh.1_Silent_p.L100L|ALCAM_uc010hpp.2_5'Flank	p.L151L	NM_001627	NP_001618	Q13740	CD166_HUMAN			4	993	+			151			Extracellular (Potential).|Ig-like V-type 2.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Silent	SNP	ENST00000306107.5	37	c.453A>G	CCDS33810.1																																																																																				PASS	0.343	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		109	26	109	26	---	---	---	---
LRRC58	116064	broad.mit.edu	37	3	120053955	120053955	+	Missense_Mutation	SNP	T	T	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr3:120053955T>A	ENST00000295628.3	-	3	756	c.661A>T	c.(661-663)Aat>Tat	p.N221Y		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	221								p.N221Y(1)		large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		AGCAAGTTATTGTGAAGACTT	0.343																																						uc003edr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(661-663)AAT>TAT		leucine rich repeat containing 58							96.0	88.0	91.0					3																	120053955		1873	4106	5979	SO:0001583	missense	116064							g.chr3:120053955T>A	BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.661A>T	3.37:g.120053955T>A	ENSP00000295628:p.Asn221Tyr						p.N221Y	NM_001099678	NP_001093148	Q96CX6	LRC58_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	3	757	-			221			LRR 8.			Missense_Mutation	SNP	ENST00000295628.3	37	c.661A>T	CCDS46892.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.385060	0.82792	.	.	ENSG00000163428	ENST00000295628	T	0.58210	0.35	5.37	5.37	0.77165	.	0.085717	0.85682	D	0.000000	T	0.59390	0.2190	L	0.28274	0.84	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60657	-0.7220	10	0.45353	T	0.12	-10.3087	13.1142	0.59292	0.0:0.0:0.0:1.0	.	221	Q96CX6	LRC58_HUMAN	Y	221	ENSP00000295628:N221Y	ENSP00000295628:N221Y	N	-	1	0	LRRC58	121536645	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.642000	0.83385	2.036000	0.60181	0.533000	0.62120	AAT		PASS	0.343	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355142.1	XM_057296		60	13	60	13	---	---	---	---
SI	6476	broad.mit.edu	37	3	164735558	164735558	+	Missense_Mutation	SNP	T	T	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr3:164735558T>A	ENST00000264382.3	-	30	3686	c.3624A>T	c.(3622-3624)caA>caT	p.Q1208H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1208	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.Q1208H(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CTTCATGGTATTGCTTTGTTG	0.313										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(3622-3624)CAA>CAT		sucrase-isomaltase	Acarbose(DB00284)						49.0	48.0	48.0					3																	164735558		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164735558T>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3624A>T	3.37:g.164735558T>A	ENSP00000264382:p.Gln1208His	HNSCC(35;0.089)					p.Q1208H	NM_001041	NP_001032	P14410	SUIS_HUMAN			30	3686	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1208			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3624A>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.963203	0.53507	.	.	ENSG00000090402	ENST00000264382	D	0.93763	-3.28	4.91	-0.1	0.13621	Glycoside hydrolase, superfamily (1);	0.243147	0.41938	D	0.000794	D	0.96926	0.8996	H	0.94698	3.57	0.31172	N	0.703127	D	0.89917	1.0	D	0.83275	0.996	D	0.94767	0.7941	10	0.87932	D	0	.	10.5428	0.45043	0.0:0.4328:0.0:0.5672	.	1208	P14410	SUIS_HUMAN	H	1208	ENSP00000264382:Q1208H	ENSP00000264382:Q1208H	Q	-	3	2	SI	166218252	0.984000	0.35163	0.947000	0.38551	0.819000	0.46315	0.052000	0.14163	-0.153000	0.11137	0.402000	0.26972	CAA		PASS	0.313	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		15	72	15	72	---	---	---	---
PDCD10	11235	broad.mit.edu	37	3	167402119	167402119	+	Missense_Mutation	SNP	G	G	C			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr3:167402119G>C	ENST00000392750.2	-	9	1033	c.616C>G	c.(616-618)Cag>Gag	p.Q206E	PDCD10_ENST00000461494.1_Missense_Mutation_p.Q206E|PDCD10_ENST00000473645.2_Missense_Mutation_p.Q206E|PDCD10_ENST00000492396.1_Missense_Mutation_p.Q143E|PDCD10_ENST00000470131.1_Missense_Mutation_p.Q206E|PDCD10_ENST00000497056.2_Missense_Mutation_p.Q206E	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	206					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.Q206E(1)		central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						TTGAAGGTCTGAAGTATTAAG	0.328																																						uc003fex.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(616-618)CAG>GAG		programmed cell death 10							110.0	101.0	104.0					3																	167402119		2203	4300	6503	SO:0001583	missense	11235	Familial_Cerebral_Cavernous_Angioma			angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding	g.chr3:167402119G>C	AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"""cerebral cavernous malformations 3"""	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.616C>G	3.37:g.167402119G>C	ENSP00000376506:p.Gln206Glu					PDCD10_uc003fez.2_Missense_Mutation_p.Q206E|PDCD10_uc003fey.2_Missense_Mutation_p.Q206E	p.Q206E	NM_007217	NP_009148	Q9BUL8	PDC10_HUMAN			9	1014	-			206					A8K515|D3DNN5|O14811	Missense_Mutation	SNP	ENST00000392750.2	37	c.616C>G	CCDS3202.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912826	0.33721	.	.	ENSG00000114209	ENST00000392750;ENST00000473645;ENST00000497056;ENST00000492396;ENST00000461494;ENST00000470131	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.99;0.98;0.98	5.93	5.93	0.95920	.	0.104838	0.64402	D	0.000002	T	0.33962	0.0881	N	0.22421	0.69	0.80722	D	1	B	0.16603	0.018	B	0.08055	0.003	T	0.04693	-1.0933	10	0.30078	T	0.28	-8.9711	20.3524	0.98815	0.0:0.0:1.0:0.0	.	206	Q9BUL8	PDC10_HUMAN	E	206;206;206;143;206;206	ENSP00000376506:Q206E;ENSP00000418317:Q206E;ENSP00000420553:Q206E;ENSP00000417309:Q143E;ENSP00000420021:Q206E;ENSP00000417202:Q206E	ENSP00000376506:Q206E	Q	-	1	0	PDCD10	168884813	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.272000	0.95707	2.815000	0.96918	0.643000	0.83706	CAG		PASS	0.328	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350966.2	NM_007217		9	266	9	266	---	---	---	---
MIR551B	693136	broad.mit.edu	37	3	168269673	168269673	+	RNA	SNP	G	G	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr3:168269673G>A	ENST00000384984.1	+	0	32					NR_030294.1				microRNA 551b																		GAAATCAAGCGTGGGTGAGAC	0.463																																						hsa-mir-551b|MI0003575																			0					0															106.0	94.0	98.0					3																	168269673		1568	3582	5150			693136							g.chr3:168269673G>A			3q26.2	2011-09-12		2008-12-18	ENSG00000207717	ENSG00000207717		"""ncRNAs / Micro RNAs"""	32807	non-coding RNA	RNA, micro				MIRN551B			Standard	NR_030294		Approved	hsa-mir-551b	uc021xha.1				3.37:g.168269673G>A																+									RNA	SNP	ENST00000384984.1	37	c.32G>A																																																																																					PASS	0.463	MIR551B-201	KNOWN	basic	miRNA	miRNA		NR_030294		12	197	12	197	---	---	---	---
MECOM	2122	broad.mit.edu	37	3	168834261	168834261	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr3:168834261C>A	ENST00000464456.1	-	7	2035	c.835G>T	c.(835-837)Gct>Tct	p.A279S	MECOM_ENST00000433243.2_Missense_Mutation_p.A280S|MECOM_ENST00000264674.3_Missense_Mutation_p.A344S|MECOM_ENST00000472280.1_Missense_Mutation_p.A280S|MECOM_ENST00000392736.3_Missense_Mutation_p.A279S|MECOM_ENST00000460814.1_Missense_Mutation_p.A279S|MECOM_ENST00000468789.1_Missense_Mutation_p.A279S|MECOM_ENST00000494292.1_Missense_Mutation_p.A467S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A279S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AAATAGTCAGCAAGGCCCGGG	0.493																																						uc003ffi.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(835-837)GCT>TCT		MDS1 and EVI1 complex locus isoform b							318.0	276.0	290.0					3																	168834261		2203	4300	6503	SO:0001583	missense	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168834261C>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.835G>T	3.37:g.168834261C>A	ENSP00000419770:p.Ala279Ser					MECOM_uc010hwk.1_Missense_Mutation_p.A302S|MECOM_uc003ffj.3_Missense_Mutation_p.A344S|MECOM_uc011bpi.1_Missense_Mutation_p.A280S|MECOM_uc003ffn.3_Missense_Mutation_p.A279S|MECOM_uc003ffk.2_Missense_Mutation_p.A279S|MECOM_uc003ffl.2_Missense_Mutation_p.A439S|MECOM_uc011bpj.1_Missense_Mutation_p.A467S|MECOM_uc011bpk.1_Missense_Mutation_p.A269S|MECOM_uc010hwn.2_Missense_Mutation_p.A467S	p.A279S	NM_005241	NP_005232	Q03112	EVI1_HUMAN			7	1104	-			279					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.835G>T	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	8.593	0.884957	0.17540	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.05319	3.51;3.51;3.47;3.61;3.47;3.51;3.46;3.61	6.03	6.03	0.97812	.	0.181720	0.39687	N	0.001296	T	0.07143	0.0181	N	0.25647	0.755	0.51233	D	0.999916	P;B;P;P;B	0.46142	0.873;0.29;0.799;0.51;0.191	B;B;B;B;B	0.41412	0.356;0.185;0.194;0.273;0.09	T	0.48937	-0.8990	10	0.16896	T	0.51	-5.5556	20.5568	0.99304	0.0:1.0:0.0:0.0	.	467;280;467;344;279	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	S	344;279;279;280;467;279;279;280	ENSP00000264674:A344S;ENSP00000376493:A279S;ENSP00000419770:A279S;ENSP00000420048:A280S;ENSP00000417899:A467S;ENSP00000419995:A279S;ENSP00000420466:A279S;ENSP00000394302:A280S	ENSP00000264674:A344S	A	-	1	0	MECOM	170316955	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.525000	0.67110	2.861000	0.98227	0.655000	0.94253	GCT		PASS	0.493	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		36	135	36	135	---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170843789	170843789	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr3:170843789G>A	ENST00000436636.2	-	17	2269	c.1925C>T	c.(1924-1926)cCc>cTc	p.P642L	TNIK_ENST00000357327.5_Missense_Mutation_p.P613L|TNIK_ENST00000341852.6_Missense_Mutation_p.P558L|TNIK_ENST00000460047.1_Missense_Mutation_p.P587L|TNIK_ENST00000488470.1_Missense_Mutation_p.P587L|TNIK_ENST00000284483.8_Missense_Mutation_p.P642L|TNIK_ENST00000470834.1_Missense_Mutation_p.P613L|TNIK_ENST00000538048.1_Missense_Mutation_p.P587L|TNIK_ENST00000369326.5_Missense_Mutation_p.P613L|TNIK_ENST00000475336.1_Missense_Mutation_p.P558L	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	642	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.P642L(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTCCGAGGTGGGATCTGAGTT	0.532																																						uc003fhh.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(1924-1926)CCC>CTC		TRAF2 and NCK interacting kinase isoform 1							86.0	87.0	87.0					3																	170843789		1913	4129	6042	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170843789G>A	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1925C>T	3.37:g.170843789G>A	ENSP00000399511:p.Pro642Leu					TNIK_uc003fhi.2_Missense_Mutation_p.P587L|TNIK_uc003fhj.2_Missense_Mutation_p.P613L|TNIK_uc003fhk.2_Missense_Mutation_p.P642L|TNIK_uc003fhl.2_Missense_Mutation_p.P558L|TNIK_uc003fhm.2_Missense_Mutation_p.P587L|TNIK_uc003fhn.2_Missense_Mutation_p.P613L|TNIK_uc003fho.2_Missense_Mutation_p.P558L	p.P642L	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		17	2270	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		642			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.1925C>T	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	32	5.151374	0.94645	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.75938	1.06;1.06;-0.91;-0.81;1.06;-0.85;1.06;-0.98;-0.86;1.06	5.55	5.55	0.83447	.	0.053221	0.85682	D	0.000000	D	0.84009	0.5378	L	0.52573	1.65	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.999;0.984;0.999;0.999;0.997;0.967;0.999;0.996	D;D;D;D;D;P;D;D	0.80764	0.994;0.939;0.994;0.994;0.979;0.888;0.994;0.954	D	0.84529	0.0632	10	0.72032	D	0.01	.	19.8741	0.96863	0.0:0.0:1.0:0.0	.	558;613;587;558;642;613;587;642	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	L	642;613;587;558;642;558;613;587;587;613	ENSP00000399511:P642L;ENSP00000358332:P613L;ENSP00000443278:P587L;ENSP00000345352:P558L;ENSP00000284483:P642L;ENSP00000418156:P558L;ENSP00000349880:P613L;ENSP00000418916:P587L;ENSP00000418378:P587L;ENSP00000419990:P613L	ENSP00000284483:P642L	P	-	2	0	TNIK	172326483	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.252000	0.95491	2.761000	0.94854	0.655000	0.94253	CCC		PASS	0.532	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		12	214	12	214	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96104068	96104068	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr4:96104068G>A	ENST00000453304.1	-	14	2779	c.2431C>T	c.(2431-2433)Ctc>Ttc	p.L811F		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	811					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.L811F(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GTGCAGTTGAGCTGGAAGATC	0.527																																						uc003htp.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(2431-2433)CTC>TTC		unc5C precursor							141.0	119.0	126.0					4																	96104068		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96104068G>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2431C>T	4.37:g.96104068G>A	ENSP00000406022:p.Leu811Phe						p.L811F	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	14	2585	-		Hepatocellular(203;0.114)	811			Cytoplasmic (Potential).		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.2431C>T	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582086	0.86748	.	.	ENSG00000182168	ENST00000453304;ENST00000331502	T	0.54479	0.57	5.83	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.70613	0.3244	M	0.73753	2.245	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.73216	-0.4053	10	0.72032	D	0.01	.	12.9461	0.58373	0.1323:0.0:0.8677:0.0	.	811	O95185	UNC5C_HUMAN	F	811;770	ENSP00000406022:L811F	ENSP00000328673:L770F	L	-	1	0	UNC5C	96323091	1.000000	0.71417	0.962000	0.40283	0.992000	0.81027	5.765000	0.68834	0.808000	0.34231	0.655000	0.94253	CTC		PASS	0.527	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		39	53	39	53	---	---	---	---
ZGRF1	55345	broad.mit.edu	37	4	113539801	113539801	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr4:113539801C>A	ENST00000505019.1	-	6	1522	c.1397G>T	c.(1396-1398)gGa>gTa	p.G466V	C4orf21_ENST00000309071.5_Missense_Mutation_p.G466V|C4orf21_ENST00000445203.2_Missense_Mutation_p.G435V	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		466						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.G466V(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTCCAGTGTTCCACATGTATT	0.338																																						uc003iau.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1396-1398)GGA>GTA		prematurely terminated mRNA decay factor-like							104.0	112.0	109.0					4																	113539801		2203	4300	6503	SO:0001583	missense	55345					integral to membrane	zinc ion binding	g.chr4:113539801C>A																												ENST00000505019.1:c.1397G>T	4.37:g.113539801C>A	ENSP00000424737:p.Gly466Val					C4orf21_uc003iaw.2_Missense_Mutation_p.G466V	p.G466V	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	1608	-		Ovarian(17;0.156)	Error:Variant_position_missing_in_Q6ZU11_after_alignment					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.1397G>T		.	.	.	.	.	.	.	.	.	.	C	13.56	2.274501	0.40194	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.82619	-1.63;1.87;1.45	4.86	-3.04	0.05412	.	1.350960	0.04855	N	0.443112	T	0.70894	0.3276	L	0.32530	0.975	0.09310	N	1	B;B	0.32893	0.389;0.1	B;B	0.32211	0.142;0.027	T	0.59075	-0.7522	10	0.66056	D	0.02	-0.8765	2.4375	0.04486	0.0987:0.3354:0.1808:0.3851	.	466;466	Q86YA3;G5EA02	CD021_HUMAN;.	V	466;466;435	ENSP00000424737:G466V;ENSP00000309095:G466V;ENSP00000390505:G435V	ENSP00000309095:G466V	G	-	2	0	C4orf21	113759250	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.202000	0.03023	-0.666000	0.05310	-0.262000	0.10625	GGA		PASS	0.338	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			75	18	75	18	---	---	---	---
GUCY1A3	2982	broad.mit.edu	37	4	156651263	156651263	+	Silent	SNP	C	C	T	rs150400396		TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr4:156651263C>T	ENST00000296518.7	+	10	2162	c.1953C>T	c.(1951-1953)ccC>ccT	p.P651P	GUCY1A3_ENST00000393832.3_Silent_p.P393P|GUCY1A3_ENST00000513574.1_Silent_p.P651P|GUCY1A3_ENST00000506455.1_Silent_p.P651P|GUCY1A3_ENST00000511108.1_Silent_p.P651P|GUCY1A3_ENST00000455639.2_Silent_p.P651P			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	651					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.P651P(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GTGAAATCCCCGGAATCTGCC	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		16979	0.0		0.001	False		,,,				2504	0.0					uc003iov.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1951-1953)CCC>CCT		guanylate cyclase 1, soluble, alpha 3 isoform A		C	,,,,	0,4406		0,0,2203	89.0	92.0	91.0		1953,1953,1953,1953,1248	1.0	1.0	4	dbSNP_134	91	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GUCY1A3	NM_000856.4,NM_001130682.1,NM_001130683.2,NM_001130684.1,NM_001130685.1	,,,,	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	,,,,	651/691,651/691,651/691,651/691,416/456	156651263	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156651263C>T		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1953C>T	4.37:g.156651263C>T						GUCY1A3_uc003iow.2_Silent_p.P651P|GUCY1A3_uc010iqd.2_Silent_p.P650P|GUCY1A3_uc003iox.2_Silent_p.P651P|GUCY1A3_uc003ioz.2_Silent_p.P416P|GUCY1A3_uc003ioy.2_Silent_p.P651P|GUCY1A3_uc010iqe.2_Silent_p.P416P|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Silent_p.P651P	p.P651P	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	11	2489	+	all_hematologic(180;0.24)	Renal(120;0.0854)	651					D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	ENST00000296518.7	37	c.1953C>T	CCDS34085.1																																																																																				PASS	0.403	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			74	11	74	11	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41017993	41017993	+	Missense_Mutation	SNP	T	T	C			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr5:41017993T>C	ENST00000399564.4	-	28	3293	c.2843A>G	c.(2842-2844)cAg>cGg	p.Q948R	MROH2B_ENST00000506092.2_Missense_Mutation_p.Q503R	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	948								p.Q948R(1)									AGCAGCCGCCTGACGGATGGT	0.468																																						uc003jmj.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(2842-2844)CAG>CGG		HEAT repeat family member 7B2							37.0	37.0	37.0					5																	41017993		1908	4125	6033	SO:0001583	missense	133558						binding	g.chr5:41017993T>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2843A>G	5.37:g.41017993T>C	ENSP00000382476:p.Gln948Arg					HEATR7B2_uc003jmi.3_Missense_Mutation_p.Q503R	p.Q948R	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			28	3333	-			948					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2843A>G	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822341	0.32237	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.05996	3.36;3.36	5.86	3.38	0.38709	Armadillo-like helical (1);Armadillo-type fold (1);	0.259912	0.27871	N	0.017513	T	0.05364	0.0142	L	0.47716	1.5	0.25537	N	0.987218	B	0.11235	0.004	B	0.09377	0.004	T	0.39901	-0.9591	10	0.15952	T	0.53	.	5.367	0.16119	0.1536:0.0836:0.0:0.7628	.	948	Q7Z745	HTRB2_HUMAN	R	503;653;948	ENSP00000441504:Q503R;ENSP00000382476:Q948R	ENSP00000296803:Q653R	Q	-	2	0	HEATR7B2	41053750	0.988000	0.35896	0.963000	0.40424	0.312000	0.27988	0.613000	0.24299	1.043000	0.40175	0.482000	0.46254	CAG		PASS	0.468	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		12	3	12	3	---	---	---	---
TRIM23	373	broad.mit.edu	37	5	64905275	64905275	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr5:64905275G>A	ENST00000231524.9	-	6	1210	c.839C>T	c.(838-840)aCt>aTt	p.T280I	TRIM23_ENST00000274327.7_Missense_Mutation_p.T280I|TRIM23_ENST00000381018.3_Missense_Mutation_p.T280I|TRIM23_ENST00000508808.1_5'UTR	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	280					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T280I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ATTCTCTGCAGTCCCTGGTAC	0.348																																						uc003jty.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(838-840)ACT>ATT		ADP-ribosylation factor domain protein 1 isoform							58.0	54.0	55.0					5																	64905275		2203	4300	6503	SO:0001583	missense	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64905275G>A	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.839C>T	5.37:g.64905275G>A	ENSP00000231524:p.Thr280Ile					TRIM23_uc003jtw.2_Missense_Mutation_p.T280I|TRIM23_uc003jtx.2_Missense_Mutation_p.T280I	p.T280I	NM_001656	NP_001647	P36406	TRI23_HUMAN		Lung(70;0.00473)	6	925	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	280					Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	c.839C>T	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041873	0.55003	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.73575	-0.7;-0.68;-0.76	5.38	4.5	0.54988	B-box, C-terminal (1);	0.050418	0.85682	D	0.000000	T	0.69333	0.3099	L	0.44542	1.39	0.58432	D	0.999998	B;P;B	0.38440	0.099;0.631;0.16	B;B;B	0.37304	0.034;0.246;0.118	T	0.73500	-0.3963	10	0.87932	D	0	.	16.3575	0.83241	0.0:0.1323:0.8677:0.0	.	280;280;280	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	I	280	ENSP00000231524:T280I;ENSP00000370406:T280I;ENSP00000274327:T280I	ENSP00000231524:T280I	T	-	2	0	TRIM23	64941031	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.285000	0.72658	1.385000	0.46445	0.650000	0.86243	ACT		PASS	0.348	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		15	17	15	17	---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80515598	80515598	+	Splice_Site	SNP	G	G	C			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr5:80515598G>C	ENST00000265080.4	+	26	3688		c.e26+1		CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TCAGCCAAAGGTAATATTATG	0.328																																						uc003kha.1																			1	Unknown(1)		lung(1)	breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12						c.e26+1		Ras protein-specific guanine							70.0	70.0	70.0					5																	80515598		2203	4300	6503	SO:0001630	splice_region_variant	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80515598G>C	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.3621+1G>C	5.37:g.80515598G>C						RNU5E_uc011cto.1_Intron|RASGRF2_uc011ctn.1_Splice_Site	p.K1207_splice	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	26	3621	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)						B9EG89|Q9UK56	Splice_Site	SNP	ENST00000265080.4	37	c.3621_splice	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617281	0.87359	.	.	ENSG00000113319	ENST00000265080	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6379	0.95744	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RASGRF2	80551354	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.869000	0.99810	2.652000	0.90054	0.561000	0.74099	.		PASS	0.328	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909	Intron	11	17	11	17	---	---	---	---
PCSK1	5122	broad.mit.edu	37	5	95748167	95748167	+	Missense_Mutation	SNP	G	G	C			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr5:95748167G>C	ENST00000311106.3	-	7	974	c.737C>G	c.(736-738)aCg>aGg	p.T246R	PCSK1_ENST00000508626.1_Missense_Mutation_p.T199R|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	246	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.T246R(1)|p.T246M(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AATAGCATCCGTCACAATGCC	0.438																																						uc003kls.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)	2						c.(736-738)ACG>AGG		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						94.0	81.0	86.0					5																	95748167		2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95748167G>C		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.737C>G	5.37:g.95748167G>C	ENSP00000308024:p.Thr246Arg					PCSK1_uc010jbi.1_Missense_Mutation_p.T7R	p.T246R	NM_000439	NP_000430	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	7	943	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	246			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.737C>G	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829169	0.90955	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.89617	-2.54;-2.54	5.47	5.47	0.80525	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.94447	0.8213	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.98;0.998	D	0.94769	0.7943	10	0.87932	D	0	-20.3318	18.9299	0.92561	0.0:0.0:1.0:0.0	.	199;246	E9PHA1;P29120	.;NEC1_HUMAN	R	246;199	ENSP00000308024:T246R;ENSP00000421600:T199R	ENSP00000308024:T246R	T	-	2	0	PCSK1	95773923	1.000000	0.71417	0.943000	0.38184	0.984000	0.73092	9.476000	0.97823	2.565000	0.86533	0.655000	0.94253	ACG		PASS	0.438	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		19	15	19	15	---	---	---	---
PCDHA8	56140	broad.mit.edu	37	5	140221314	140221314	+	Silent	SNP	A	A	G			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr5:140221314A>G	ENST00000531613.1	+	1	408	c.408A>G	c.(406-408)aaA>aaG	p.K136K	PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.K136K|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	136					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.K136K(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGGTAAAAGACCAAAAGC	0.532																																						uc003lhs.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(406-408)AAA>AAG		protocadherin alpha 8 isoform 1 precursor							99.0	108.0	105.0					5																	140221314		2203	4300	6503	SO:0001819	synonymous_variant	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140221314A>G	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.408A>G	5.37:g.140221314A>G						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.K136K	p.K136K	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	408	+			136			Extracellular (Potential).		B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.408A>G	CCDS54919.1																																																																																				PASS	0.532	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		42	61	42	61	---	---	---	---
PCDHGB6	56100	broad.mit.edu	37	5	140788883	140788883	+	Silent	SNP	C	C	A	rs114361948	byFrequency	TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr5:140788883C>A	ENST00000520790.1	+	1	1114	c.1114C>A	c.(1114-1116)Cgg>Agg	p.R372R	PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	372	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R372W(2)|p.R372R(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCAAAACACGGGATCTGGA	0.393																																						uc003lkj.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		large_intestine(1)|lung(1)|endometrium(1)		0						c.(1114-1116)CGG>AGG		protocadherin gamma subfamily B, 6 isoform 1							55.0	54.0	54.0					5																	140788883		1851	4110	5961	SO:0001819	synonymous_variant	56100				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140788883C>A	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1114C>A	5.37:g.140788883C>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.R372R	p.R372R	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1114	+			372			Extracellular (Potential).|Cadherin 4.		Q9Y5C5	Silent	SNP	ENST00000520790.1	37	c.1114C>A	CCDS54929.1																																																																																				PASS	0.393	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		14	20	14	20	---	---	---	---
SLC6A7	6534	broad.mit.edu	37	5	149584177	149584177	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr5:149584177C>T	ENST00000230671.2	+	11	1786	c.1415C>T	c.(1414-1416)gCc>gTc	p.A472V	SLC6A7_ENST00000524041.1_Missense_Mutation_p.A472V	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	472					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)	p.A472V(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	ACGTGCCTTGCCGTGACACGG	0.592																																						uc003lrr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1414-1416)GCC>GTC		solute carrier family 6, member 7	L-Proline(DB00172)						96.0	87.0	90.0					5																	149584177		2203	4300	6503	SO:0001583	missense	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149584177C>T	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.1415C>T	5.37:g.149584177C>T	ENSP00000230671:p.Ala472Val						p.A472V	NM_014228	NP_055043	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1786	+		all_hematologic(541;0.224)	472			Helical; Name=10; (Potential).		Q0VG81|Q52LU6	Missense_Mutation	SNP	ENST00000230671.2	37	c.1415C>T	CCDS4305.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211456	0.39102	.	.	ENSG00000011083	ENST00000230671;ENST00000524041	T;T	0.74632	-0.86;-0.86	5.24	3.4	0.38934	.	0.341241	0.33813	N	0.004526	T	0.54919	0.1888	L	0.27975	0.815	0.29388	N	0.862798	B	0.06786	0.001	B	0.15052	0.012	T	0.42982	-0.9419	10	0.32370	T	0.25	.	3.1498	0.06484	0.2434:0.5696:0.0:0.187	.	472	Q99884	SC6A7_HUMAN	V	472	ENSP00000230671:A472V;ENSP00000428200:A472V	ENSP00000230671:A472V	A	+	2	0	SLC6A7	149564370	0.672000	0.27530	0.978000	0.43139	0.965000	0.64279	1.513000	0.35823	1.164000	0.42652	0.561000	0.74099	GCC		PASS	0.592	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		3	51	3	51	---	---	---	---
TCOF1	6949	broad.mit.edu	37	5	149740740	149740740	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr5:149740740G>T	ENST00000504761.2	+	2	130	c.130G>T	c.(130-132)Gta>Tta	p.V44L	TCOF1_ENST00000513346.1_Missense_Mutation_p.V44L|TCOF1_ENST00000323668.7_Missense_Mutation_p.V44L|TCOF1_ENST00000439160.2_Missense_Mutation_p.V44L|TCOF1_ENST00000445265.2_Missense_Mutation_p.V44L|TCOF1_ENST00000451292.1_Missense_Mutation_p.V44L|TCOF1_ENST00000377797.3_Missense_Mutation_p.V44L|TCOF1_ENST00000394269.3_Missense_Mutation_p.V44L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	44					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)	p.V44L(2)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCTCAGCCCGTAACCCTTCT	0.517																																						uc003lry.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(130-132)GTA>TTA		Treacher Collins-Franceschetti syndrome 1							169.0	158.0	162.0					5																	149740740		2203	4300	6503	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149740740G>T		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.130G>T	5.37:g.149740740G>T	ENSP00000421655:p.Val44Leu					TCOF1_uc003lrw.2_Missense_Mutation_p.V44L|TCOF1_uc011dch.1_Missense_Mutation_p.V44L|TCOF1_uc003lrz.2_Missense_Mutation_p.V44L|TCOF1_uc003lrx.2_Missense_Mutation_p.V44L|TCOF1_uc003lsa.2_Missense_Mutation_p.V44L	p.V44L	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	238	+		all_hematologic(541;0.224)	44					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.130G>T	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450283	0.63290	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346;ENST00000515516	T;T;T;T;T;D;T;T;T;D	0.84944	-1.06;-1.1;-1.05;-1.06;-1.08;-1.89;-1.06;-1.09;-1.08;-1.92	4.79	2.95	0.34219	.	0.814689	0.10004	N	0.728046	D	0.86418	0.5928	M	0.75264	2.295	0.09310	N	1	P;D;P;P;D;D	0.56521	0.839;0.976;0.839;0.859;0.976;0.976	P;P;P;P;P;P	0.48982	0.455;0.597;0.455;0.482;0.597;0.597	T	0.75300	-0.3366	10	0.87932	D	0	-1.9023	6.1549	0.20332	0.0977:0.0:0.7175:0.1848	.	44;44;44;44;44;44	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;TCOF_HUMAN;.;.	L	44;44;44;44;44;44;44;44;44;32	ENSP00000400939:V44L;ENSP00000367028:V44L;ENSP00000409944:V44L;ENSP00000325223:V44L;ENSP00000406888:V44L;ENSP00000377811:V44L;ENSP00000390717:V44L;ENSP00000421655:V44L;ENSP00000427484:V44L;ENSP00000426471:V32L	ENSP00000325223:V44L	V	+	1	0	TCOF1	149720933	0.161000	0.22892	0.128000	0.21923	0.622000	0.37654	0.471000	0.22100	0.544000	0.28883	0.551000	0.68910	GTA		PASS	0.517	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		31	41	31	41	---	---	---	---
FAM71B	153745	broad.mit.edu	37	5	156592796	156592796	+	Silent	SNP	C	C	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr5:156592796C>A	ENST00000302938.4	-	1	479	c.384G>T	c.(382-384)gtG>gtT	p.V128V		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	128						nucleus (GO:0005634)		p.V128V(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGAGATCTTCACAAATTTCA	0.537																																						uc003lwn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(382-384)GTG>GTT		family with sequence similarity 71, member B							83.0	86.0	85.0					5																	156592796		2203	4300	6503	SO:0001819	synonymous_variant	153745					nucleus		g.chr5:156592796C>A		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.384G>T	5.37:g.156592796C>A							p.V128V	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	484	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	128					Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	c.384G>T	CCDS4335.1																																																																																				PASS	0.537	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		22	36	22	36	---	---	---	---
CYFIP2	26999	broad.mit.edu	37	5	156747731	156747731	+	Missense_Mutation	SNP	G	G	C			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr5:156747731G>C	ENST00000521420.1	+	14	1605	c.1514G>C	c.(1513-1515)tGc>tCc	p.C505S	CYFIP2_ENST00000522463.1_Missense_Mutation_p.C335S|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.C531S|CYFIP2_ENST00000347377.6_Missense_Mutation_p.C531S|CYFIP2_ENST00000435847.2_Missense_Mutation_p.C205S|CYFIP2_ENST00000541131.1_Missense_Mutation_p.C456S|CYFIP2_ENST00000377576.3_Missense_Mutation_p.C531S					cytoplasmic FMR1 interacting protein 2									p.C531S(3)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATGACCCATGCTTGAGAGGG	0.582																																						uc003lwq.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1591-1593)TGC>TCC		cytoplasmic FMR1 interacting protein 2							51.0	52.0	51.0					5																	156747731		1949	4142	6091	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156747731G>C	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1514G>C	5.37:g.156747731G>C	ENSP00000430904:p.Cys505Ser					CYFIP2_uc011ddn.1_Missense_Mutation_p.C505S|CYFIP2_uc011ddo.1_Missense_Mutation_p.C335S|CYFIP2_uc003lwr.2_Missense_Mutation_p.C531S|CYFIP2_uc003lws.2_Missense_Mutation_p.C531S|CYFIP2_uc003lwt.2_Missense_Mutation_p.C409S|CYFIP2_uc011ddp.1_Missense_Mutation_p.C265S	p.C531S	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		17	1730	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	531						Missense_Mutation	SNP	ENST00000521420.1	37	c.1592G>C		.	.	.	.	.	.	.	.	.	.	G	13.96	2.392366	0.42410	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.40743	0.1129	N	0.11427	0.14	0.80722	D	1	B;B;B;B;B;P	0.44877	0.0;0.001;0.009;0.006;0.001;0.845	B;B;B;B;B;P	0.55785	0.005;0.007;0.021;0.016;0.0;0.784	T	0.16100	-1.0414	10	0.12103	T	0.63	-33.0759	19.7154	0.96115	0.0:0.0:1.0:0.0	.	395;335;505;531;531;531	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	S	531;335;505;531;531;456;205	ENSP00000325817:C531S;ENSP00000428009:C335S;ENSP00000430904:C505S;ENSP00000313567:C531S;ENSP00000366799:C531S;ENSP00000444645:C456S;ENSP00000403793:C205S	ENSP00000325817:C531S	C	+	2	0	CYFIP2	156680309	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	4.707000	0.61852	2.664000	0.90586	0.655000	0.94253	TGC		PASS	0.582	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		18	24	18	24	---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168096991	168096991	+	Missense_Mutation	SNP	T	T	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr5:168096991T>A	ENST00000519560.1	-	35	4552	c.4133A>T	c.(4132-4134)cAc>cTc	p.H1378L	SLIT3_ENST00000332966.8_Missense_Mutation_p.H1385L|SLIT3_ENST00000404867.3_Missense_Mutation_p.H1378L|CTC-558O2.2_ENST00000520041.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1378	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.H1378L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTTCCATGGTGGCATCTAGG	0.577																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(4132-4134)CAC>CTC		slit homolog 3 precursor							74.0	59.0	64.0					5																	168096991		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168096991T>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4133A>T	5.37:g.168096991T>A	ENSP00000430333:p.His1378Leu					SLIT3_uc010jjg.2_Missense_Mutation_p.H1385L	p.H1378L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		35	4553	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1378			EGF-like 8.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.4133A>T	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	T	0.890	-0.725727	0.03158	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.91894	-2.93;-2.93;-2.93	5.13	-10.3	0.00346	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	1.585300	0.03142	N	0.166677	T	0.78597	0.4308	N	0.02708	-0.52	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.72037	-0.4411	10	0.26408	T	0.33	.	12.1754	0.54182	0.4303:0.4812:0.0:0.0885	.	1378	O75094	SLIT3_HUMAN	L	1378;1385;1378	ENSP00000430333:H1378L;ENSP00000332164:H1385L;ENSP00000384890:H1378L	ENSP00000332164:H1385L	H	-	2	0	SLIT3	168029569	0.000000	0.05858	0.005000	0.12908	0.365000	0.29674	-0.701000	0.05075	-3.831000	0.00101	-0.379000	0.06801	CAC		PASS	0.577	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		19	17	19	17	---	---	---	---
TRIM7	81786	broad.mit.edu	37	5	180625213	180625213	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr5:180625213G>T	ENST00000274773.7	-	6	1055	c.994C>A	c.(994-996)Ctt>Att	p.L332I	CTC-338M12.6_ENST00000502812.2_RNA|CTC-338M12.6_ENST00000511517.1_RNA|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000361809.3_Missense_Mutation_p.L124I|CTC-338M12.6_ENST00000514784.1_RNA|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.6_ENST00000419707.2_RNA|TRIM7_ENST00000393319.3_Missense_Mutation_p.L150I|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000422067.2_Missense_Mutation_p.L124I|TRIM7_ENST00000393315.1_Missense_Mutation_p.L124I	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	332	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.L332I(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TCTCCCCGAAGGTCCTCTGAG	0.522																																					Esophageal Squamous(128;2258 2308 35507 48647)	uc003mmz.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(994-996)CTT>ATT		tripartite motif-containing 7 isoform 1							201.0	161.0	174.0					5																	180625213		2203	4300	6503	SO:0001583	missense	81786					cytoplasm|nucleus	zinc ion binding	g.chr5:180625213G>T	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.994C>A	5.37:g.180625213G>T	ENSP00000274773:p.Leu332Ile					TRIM7_uc003mmv.1_Missense_Mutation_p.L150I|TRIM7_uc003mmw.1_Missense_Mutation_p.L124I|TRIM7_uc003mmx.1_Missense_Mutation_p.L124I|TRIM7_uc003mmy.1_Missense_Mutation_p.L124I	p.L332I	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	6	1061	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	332			B30.2/SPRY.		A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	ENST00000274773.7	37	c.994C>A	CCDS4462.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131681	0.37630	.	.	ENSG00000146054	ENST00000274773;ENST00000393315;ENST00000361809;ENST00000393319;ENST00000422067	T;T;T;T;T	0.61510	0.55;0.14;0.14;0.1;0.14	5.22	4.34	0.51931	B30.2/SPRY domain (1);	0.330755	0.21452	N	0.074305	T	0.59702	0.2213	M	0.74647	2.275	0.33314	D	0.566401	P;P	0.38473	0.633;0.506	B;B	0.40782	0.34;0.319	T	0.71073	-0.4698	10	0.41790	T	0.15	.	11.5469	0.50698	0.0:0.0:0.8212:0.1788	.	332;150	Q9C029;Q9C029-4	TRIM7_HUMAN;.	I	332;124;124;150;124	ENSP00000274773:L332I;ENSP00000376991:L124I;ENSP00000355059:L124I;ENSP00000376994:L150I;ENSP00000391458:L124I	ENSP00000274773:L332I	L	-	1	0	TRIM7	180557819	1.000000	0.71417	0.993000	0.49108	0.008000	0.06430	3.871000	0.56077	1.313000	0.45069	-0.310000	0.09108	CTT		PASS	0.522	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296		11	16	11	16	---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34838857	34838857	+	Missense_Mutation	SNP	G	G	C	rs372385078		TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr6:34838857G>C	ENST00000192788.5	+	18	4116	c.3945G>C	c.(3943-3945)atG>atC	p.M1315I	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.M1315I	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1315							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.M1315I(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TAGTCCCCATGCAGATTGAGC	0.512																																						uc003oju.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3943-3945)ATG>ATC		ICBP90 binding protein 1							81.0	79.0	80.0					6																	34838857		2000	4155	6155	SO:0001583	missense	54887							g.chr6:34838857G>C	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3945G>C	6.37:g.34838857G>C	ENSP00000192788:p.Met1315Ile					UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	p.M1315I	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			18	4179	+			1315					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.3945G>C	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707164	0.68615	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.14893	2.47;2.5	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.11196	0.0273	L	0.56769	1.78	0.40334	D	0.978968	P	0.36027	0.533	B	0.27076	0.076	T	0.03728	-1.1009	10	0.51188	T	0.08	-19.7493	19.2271	0.93821	0.0:0.0:1.0:0.0	.	1315	Q6BDS2	URFB1_HUMAN	I	1315	ENSP00000192788:M1315I;ENSP00000400628:M1315I	ENSP00000192788:M1315I	M	+	3	0	UHRF1BP1	34946835	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.330000	0.79181	2.521000	0.84997	0.655000	0.94253	ATG		PASS	0.512	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		160	8	160	8	---	---	---	---
CRISP3	10321	broad.mit.edu	37	6	49696477	49696477	+	Missense_Mutation	SNP	T	T	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr6:49696477T>A	ENST00000393666.1	-	7	710	c.704A>T	c.(703-705)aAg>aTg	p.K235M	CRISP3_ENST00000433368.2_Missense_Mutation_p.K258M|CRISP3_ENST00000423399.2_Missense_Mutation_p.K145M|CRISP3_ENST00000371159.4_Missense_Mutation_p.K266M|CRISP3_ENST00000263045.4_Missense_Mutation_p.K248M			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	235	ShKT. {ECO:0000255|PROSITE- ProRule:PRU01005}.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)		p.K235M(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GCAGGAGGCCTTGCAACTGTC	0.403																																						uc003ozs.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(703-705)AAG>ATG		cysteine-rich secretory protein 3 precursor							184.0	166.0	172.0					6																	49696477		2203	4300	6503	SO:0001583	missense	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49696477T>A	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.704A>T	6.37:g.49696477T>A	ENSP00000377274:p.Lys235Met						p.K235M	NM_006061	NP_006052	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		8	719	-	Lung NSC(77;0.0161)		235					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	37	c.704A>T		.	.	.	.	.	.	.	.	.	.	T	12.40	1.927415	0.34002	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159	T;T;T;T;T	0.15256	3.0;2.99;3.01;2.44;3.0	4.55	3.39	0.38822	Cysteine-rich secretory protein (1);	0.324879	0.23132	U	0.051578	T	0.20901	0.0503	M	0.74881	2.28	0.22001	N	0.999423	D	0.69078	0.997	D	0.67103	0.949	T	0.06197	-1.0840	10	0.54805	T	0.06	.	6.7487	0.23475	0.0:0.1105:0.0:0.8895	.	235	P54108	CRIS3_HUMAN	M	248;258;235;145;266	ENSP00000263045:K248M;ENSP00000389026:K258M;ENSP00000377274:K235M;ENSP00000410469:K145M;ENSP00000360201:K266M	ENSP00000263045:K248M	K	-	2	0	CRISP3	49804436	0.000000	0.05858	0.866000	0.34008	0.117000	0.20001	0.345000	0.19979	0.715000	0.32103	0.496000	0.49642	AAG		PASS	0.403	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		195	8	195	8	---	---	---	---
CEP162	22832	broad.mit.edu	37	6	84865079	84865079	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr6:84865079C>T	ENST00000403245.3	-	22	3046	c.2932G>A	c.(2932-2934)Ggc>Agc	p.G978S	KIAA1009_ENST00000257766.4_Missense_Mutation_p.G902S|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2												p.G978S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCATCTTTGCCCTCCAGATCA	0.393																																						uc010kbp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2932-2934)GGC>AGC		KIAA1009 protein							194.0	178.0	183.0					6																	84865079		2203	4300	6503	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84865079C>T																												ENST00000403245.3:c.2932G>A	6.37:g.84865079C>T	ENSP00000385215:p.Gly978Ser					KIAA1009_uc003pkj.3_Missense_Mutation_p.G902S|KIAA1009_uc003pki.3_Missense_Mutation_p.G364S	p.G978S	NM_014895	NP_055710	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	22	3029	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	978			Potential.			Missense_Mutation	SNP	ENST00000403245.3	37	c.2932G>A	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097803	0.76870	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.18338	2.22;2.22	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000008	T	0.26304	0.0642	L	0.58101	1.795	0.45390	D	0.998375	D	0.89917	1.0	D	0.91635	0.999	T	0.00613	-1.1644	10	0.38643	T	0.18	-7.7861	12.4223	0.55527	0.0:0.9224:0.0:0.0776	.	978	Q5TB80	QN1_HUMAN	S	902;978	ENSP00000257766:G902S;ENSP00000385215:G978S	ENSP00000257766:G902S	G	-	1	0	KIAA1009	84921798	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.971000	0.49248	2.552000	0.86080	0.650000	0.86243	GGC		PASS	0.393	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			28	206	28	206	---	---	---	---
FYN	2534	broad.mit.edu	37	6	111995783	111995783	+	Missense_Mutation	SNP	T	T	C			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr6:111995783T>C	ENST00000354650.3	-	13	1930	c.1324A>G	c.(1324-1326)Agg>Ggg	p.R442G	FYN_ENST00000368678.4_Missense_Mutation_p.R439G|FYN_ENST00000229471.4_Missense_Mutation_p.R387G|FYN_ENST00000368682.3_Missense_Mutation_p.R439G|FYN_ENST00000229470.5_Missense_Mutation_p.R390G|FYN_ENST00000368667.2_Missense_Mutation_p.R442G|FYN_ENST00000356013.2_Missense_Mutation_p.R387G|FYN_ENST00000538466.1_Missense_Mutation_p.R439G	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	442	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|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)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.R439G(1)|p.R442G(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	ATTGTGAACCTCCCGTACAGG	0.537																																						uc003pvj.2																			2	Substitution - Missense(2)		lung(2)	lung(5)|central_nervous_system(1)|skin(1)	7						c.(1324-1326)AGG>GGG		protein-tyrosine kinase fyn isoform a	Dasatinib(DB01254)						131.0	130.0	130.0					6																	111995783		2203	4300	6503	SO:0001583	missense	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:111995783T>C	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1324A>G	6.37:g.111995783T>C	ENSP00000346671:p.Arg442Gly					FYN_uc003pvi.2_Missense_Mutation_p.R387G|FYN_uc003pvk.2_Missense_Mutation_p.R442G|FYN_uc003pvh.2_Missense_Mutation_p.R439G	p.R442G	NM_002037	NP_002028	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	12	1664	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	442			Protein kinase.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	c.1324A>G	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.321208	0.41096	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792	D;D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	5.67	3.21	0.36854	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	N	0.17872	0.535	0.80722	D	1	B;B;P	0.45569	0.088;0.057;0.861	B;B;B	0.43360	0.036;0.045;0.417	T	0.63906	-0.6531	10	0.66056	D	0.02	.	8.3463	0.32275	0.0:0.0685:0.133:0.7984	.	442;387;439	P06241;P06241-3;E1P556	FYN_HUMAN;.;.	G	439;442;387;442;439;390;387;439;390	ENSP00000357671:R439G;ENSP00000346671:R442G;ENSP00000229471:R387G;ENSP00000357656:R442G;ENSP00000357667:R439G;ENSP00000229470:R390G;ENSP00000348295:R387G;ENSP00000440646:R439G	ENSP00000229470:R390G	R	-	1	2	FYN	112102476	1.000000	0.71417	0.997000	0.53966	0.708000	0.40852	3.305000	0.51873	0.406000	0.25560	-0.464000	0.05259	AGG		PASS	0.537	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			102	16	102	16	---	---	---	---
PDE7B	27115	broad.mit.edu	37	6	136468511	136468511	+	Silent	SNP	T	T	C			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr6:136468511T>C	ENST00000308191.6	+	4	492	c.189T>C	c.(187-189)atT>atC	p.I63I	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	63					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.I63I(1)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	CAGGGGAGATTGGCACCAAGA	0.388																																						uc003qgp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(187-189)ATT>ATC		phosphodiesterase 7B	Dyphylline(DB00651)|Ketotifen(DB00920)						102.0	103.0	103.0					6																	136468511		2203	4300	6503	SO:0001819	synonymous_variant	27115				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr6:136468511T>C	AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"""Phosphodiesterases"""	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.189T>C	6.37:g.136468511T>C						uc003qgq.1_Intron|PDE7B_uc003qgr.2_Silent_p.I115I	p.I63I	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	4	492	+	Colorectal(23;0.24)		63					Q5W154	Silent	SNP	ENST00000308191.6	37	c.189T>C	CCDS5175.1																																																																																				PASS	0.388	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1			80	12	80	12	---	---	---	---
FOXK1	221937	broad.mit.edu	37	7	4798980	4798980	+	Missense_Mutation	SNP	C	C	G			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr7:4798980C>G	ENST00000328914.4	+	7	1450	c.1450C>G	c.(1450-1452)Cct>Gct	p.P484A	FOXK1_ENST00000446823.1_Missense_Mutation_p.P321A	NM_001037165.1	NP_001032242.1			forkhead box K1									p.P462A(1)|p.P484A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CATGGCCGTGCCTCCCCGACC	0.731																																						uc003snc.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|skin(1)	2						c.(1450-1452)CCT>GCT		forkhead box K1							20.0	20.0	20.0					7																	4798980		2194	4295	6489	SO:0001583	missense	221937				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr7:4798980C>G	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1450C>G	7.37:g.4798980C>G	ENSP00000328720:p.Pro484Ala					FOXK1_uc003sna.1_Missense_Mutation_p.P321A	p.P484A	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	7	1460	+		Ovarian(82;0.0175)	484						Missense_Mutation	SNP	ENST00000328914.4	37	c.1450C>G	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787746	0.70337	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.95949	-3.59;-3.86	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.96574	0.8882	L	0.46157	1.445	0.58432	D	0.999999	D;D	0.89917	0.991;1.0	P;D	0.85130	0.73;0.997	D	0.95215	0.8329	10	0.27785	T	0.31	.	18.3931	0.90490	0.0:1.0:0.0:0.0	.	484;321	P85037;P85037-2	FOXK1_HUMAN;.	A	321;240;484;367	ENSP00000394442:P321A;ENSP00000328720:P484A	ENSP00000328720:P484A	P	+	1	0	FOXK1	4765506	1.000000	0.71417	0.987000	0.45799	0.534000	0.34807	7.439000	0.80444	2.666000	0.90696	0.591000	0.81541	CCT		PASS	0.731	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			5	7	5	7	---	---	---	---
PDE1C	5137	broad.mit.edu	37	7	31855724	31855724	+	Missense_Mutation	SNP	C	C	A	rs267601486		TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr7:31855724C>A	ENST00000396191.1	-	15	2082	c.1627G>T	c.(1627-1629)Gca>Tca	p.A543S	PDE1C_ENST00000321453.7_Missense_Mutation_p.A543S|PDE1C_ENST00000396182.2_Missense_Mutation_p.A543S|PDE1C_ENST00000396193.1_Missense_Mutation_p.A603S|PDE1C_ENST00000396184.3_Missense_Mutation_p.A543S|PDE1C_ENST00000479980.1_5'UTR	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	543					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.A543S(2)|p.A603S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TGCTCCTCTGCGGCCAGGCGA	0.502																																						uc003tcm.1																			3	Substitution - Missense(3)		lung(3)	skin(3)|central_nervous_system(1)	4						c.(1627-1629)GCA>TCA		phosphodiesterase 1C							153.0	147.0	149.0					7																	31855724		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31855724C>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1627G>T	7.37:g.31855724C>A	ENSP00000379494:p.Ala543Ser					PDE1C_uc003tcn.1_Missense_Mutation_p.A543S|PDE1C_uc003tco.1_Missense_Mutation_p.A603S|PDE1C_uc003tcr.2_Missense_Mutation_p.A543S|PDE1C_uc003tcs.2_Missense_Mutation_p.A543S	p.A543S	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		15	2096	-			543					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1627G>T	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368172	0.42003	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.64;-0.64	5.34	5.34	0.76211	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.534800	0.20589	N	0.089392	T	0.51024	0.1650	N	0.19112	0.55	0.40824	D	0.983533	B;B;B	0.33103	0.397;0.276;0.276	B;B;B	0.32724	0.151;0.103;0.103	T	0.48980	-0.8986	10	0.20519	T	0.43	.	7.5856	0.27991	0.0:0.7474:0.1674:0.0852	.	543;603;543	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	S	603;543;543;543;543	ENSP00000379496:A603S;ENSP00000379494:A543S;ENSP00000318105:A543S;ENSP00000379487:A543S;ENSP00000379485:A543S	ENSP00000318105:A543S	A	-	1	0	PDE1C	31822249	0.880000	0.30214	0.933000	0.37362	0.957000	0.61999	1.788000	0.38714	2.779000	0.95612	0.655000	0.94253	GCA		PASS	0.502	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			40	79	40	79	---	---	---	---
PSPH	5723	broad.mit.edu	37	7	56085002	56085002	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr7:56085002C>T	ENST00000395471.3	-	6	1151	c.346G>A	c.(346-348)Gta>Ata	p.V116I	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.V116I			P78330	SERB_HUMAN	phosphoserine phosphatase	116					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)	p.V116I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACATGCTCTACAATACTCCTA	0.393																																						uc003trg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(346-348)GTA>ATA		phosphoserine phosphatase							87.0	75.0	79.0					7																	56085002		2203	4300	6503	SO:0001583	missense	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56085002C>T	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.346G>A	7.37:g.56085002C>T	ENSP00000378854:p.Val116Ile					PSPH_uc003trh.2_Missense_Mutation_p.V116I|PSPH_uc003tri.2_Missense_Mutation_p.V116I|PSPH_uc003trj.2_Missense_Mutation_p.V145I	p.V116I	NM_004577	NP_004568	P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	709	-	Breast(14;0.214)		116					B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	c.346G>A	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432510	0.25813	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626	D;D;D	0.81908	-1.55;-1.55;-1.55	4.85	4.85	0.62838	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	N	0.05124	-0.11	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.18263	0.021;0.021	T	0.62992	-0.6736	10	0.02654	T	1	-16.2549	17.1115	0.86676	0.0:1.0:0.0:0.0	.	116;116	Q53EY1;P78330	.;SERB_HUMAN	I	116	ENSP00000275605:V116I;ENSP00000378854:V116I;ENSP00000398653:V116I	ENSP00000275605:V116I	V	-	1	0	PSPH	56052496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.551000	0.82182	2.297000	0.77311	0.579000	0.79373	GTA		PASS	0.393	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		4	86	4	86	---	---	---	---
CDHR3	222256	broad.mit.edu	37	7	105671280	105671280	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr7:105671280G>T	ENST00000317716.9	+	18	2427	c.2347G>T	c.(2347-2349)Gat>Tat	p.D783Y	CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000542731.1_Missense_Mutation_p.D783Y|CDHR3_ENST00000478080.1_Missense_Mutation_p.D695Y	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	783					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D783Y(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AGAAGCCATAGATCCAGGTAA	0.408																																						uc003vdl.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2347-2349)GAT>TAT		hypothetical protein LOC222256 precursor							122.0	116.0	118.0					7																	105671280		1920	4133	6053	SO:0001583	missense	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105671280G>T	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.2347G>T	7.37:g.105671280G>T	ENSP00000325954:p.Asp783Tyr					CDHR3_uc003vdk.2_3'UTR|CDHR3_uc003vdm.3_Missense_Mutation_p.D770Y|CDHR3_uc011klt.1_Missense_Mutation_p.D695Y|CDHR3_uc003vdn.2_3'UTR	p.D783Y	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN			18	2455	+			783			Cytoplasmic (Potential).		Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	c.2347G>T	CCDS47684.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061761	0.36373	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.63255	-0.03;-0.0;-0.03	5.48	4.59	0.56863	.	0.000000	0.64402	D	0.000001	T	0.79046	0.4380	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81035	-0.1115	10	0.87932	D	0	-16.5655	17.4033	0.87466	0.0668:0.0:0.9332:0.0	.	770;783	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	Y	783;783;695	ENSP00000439766:D783Y;ENSP00000325954:D783Y;ENSP00000417771:D695Y	ENSP00000325954:D783Y	D	+	1	0	CDHR3	105458516	1.000000	0.71417	0.732000	0.30844	0.332000	0.28634	5.110000	0.64622	0.688000	0.31529	-1.134000	0.01955	GAT		PASS	0.408	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		6	40	6	40	---	---	---	---
IQUB	154865	broad.mit.edu	37	7	123142697	123142697	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr7:123142697C>T	ENST00000466202.1	-	6	1553	c.977G>A	c.(976-978)gGa>gAa	p.G326E	IQUB_ENST00000324698.6_Missense_Mutation_p.G326E|IQUB_ENST00000434450.1_Missense_Mutation_p.G326E|IQUB_ENST00000488987.1_5'UTR	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	326					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.G326E(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AAAATACTTTCCTGGTGTTAC	0.328																																						uc003vkn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(976-978)GGA>GAA		IQ motif and ubiquitin domain containing							127.0	119.0	122.0					7																	123142697		2203	4300	6503	SO:0001583	missense	154865							g.chr7:123142697C>T	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.977G>A	7.37:g.123142697C>T	ENSP00000417769:p.Gly326Glu					IQUB_uc003vko.2_Missense_Mutation_p.G326E|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Missense_Mutation_p.G326E|IQUB_uc003vkq.2_3'UTR	p.G326E	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN			6	1554	-			326					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	c.977G>A	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812716	0.50527	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.50813	1.76;1.76;0.73	5.71	5.71	0.89125	.	0.160149	0.56097	D	0.000034	T	0.68229	0.2978	M	0.84948	2.725	0.43018	D	0.994563	D;D	0.76494	0.997;0.999	D;D	0.67382	0.951;0.911	T	0.72609	-0.4241	10	0.62326	D	0.03	.	10.2941	0.43613	0.0:0.8547:0.0:0.1453	.	326;326	Q8NA54-2;Q8NA54	.;IQUB_HUMAN	E	326	ENSP00000417769:G326E;ENSP00000324882:G326E;ENSP00000388498:G326E	ENSP00000324882:G326E	G	-	2	0	IQUB	122929933	0.329000	0.24696	0.944000	0.38274	0.254000	0.26022	2.315000	0.43752	2.709000	0.92574	0.655000	0.94253	GGA		PASS	0.328	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		23	57	23	57	---	---	---	---
PRSS1	5644	broad.mit.edu	37	7	142458536	142458536	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr7:142458536G>T	ENST00000311737.7	+	2	177	c.171G>T	c.(169-171)tgG>tgT	p.W57C	PRSS1_ENST00000486171.1_Missense_Mutation_p.W57C	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	57	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.W57C(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	ACGAACAGTGGGTGGTATCAG	0.587																																						uc003wak.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(169-171)TGG>TGT		protease, serine, 1 preproprotein							88.0	90.0	89.0					7																	142458536		2203	4300	6503	SO:0001583	missense	5644	Hereditary_Pancreatitis			digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142458536G>T	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.171G>T	7.37:g.142458536G>T	ENSP00000308720:p.Trp57Cys					uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_Missense_Mutation_p.G33C|PRSS1_uc003wam.2_5'Flank	p.W57C	NM_002769	NP_002760	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		2	188	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	57			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.171G>T	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404246	0.42613	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;D	0.94537	-3.45;-3.45;-1.82	3.49	3.49	0.39957	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.97745	0.9260	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98750	1.0720	10	0.87932	D	0	.	14.3966	0.67015	0.0:0.0:1.0:0.0	.	57	P07477	TRY1_HUMAN	C	57;57;57;7	ENSP00000417854:W57C;ENSP00000308720:W57C;ENSP00000419912:W7C	ENSP00000308720:W57C	W	+	3	0	PRSS1	142138110	1.000000	0.71417	1.000000	0.80357	0.106000	0.19336	9.521000	0.98029	1.879000	0.54435	0.404000	0.27445	TGG		PASS	0.587	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			63	76	63	76	---	---	---	---
RPS20	6224	broad.mit.edu	37	8	56985729	56985729	+	Missense_Mutation	SNP	G	G	C			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr8:56985729G>C	ENST00000521262.1	-	4	533	c.280C>G	c.(280-282)Cct>Gct	p.P94A	RPS20_ENST00000009589.3_Missense_Mutation_p.P94A|RPS20_ENST00000520490.1_5'UTR|CTA-397H3.3_ENST00000521403.1_RNA|RPS20_ENST00000519807.1_Missense_Mutation_p.P94A|RPS20_ENST00000523936.1_3'UTR|RPS20_ENST00000524349.1_Missense_Mutation_p.P39A|SNORD54_ENST00000459159.1_RNA|RPS20_ENST00000519606.1_3'UTR|RPS20_ENST00000520627.1_Missense_Mutation_p.P39A			P60866	RS20_HUMAN	ribosomal protein S20	94					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.P94A(2)					all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			ATCTCAGAAGGACTGTGCAAG	0.398																																						uc003xsn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(280-282)CCT>GCT		ribosomal protein S20 isoform 2							85.0	89.0	88.0					8																	56985729		2060	3940	6000	SO:0001583	missense	6224				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr8:56985729G>C	L06498	CCDS6163.1, CCDS55231.1	8q12.1	2011-04-05				ENSG00000008988		"""S ribosomal proteins"""	10405	protein-coding gene	gene with protein product		603682				9582194, 8479924	Standard	NM_001023		Approved	S20	uc003xsm.2	P60866		ENST00000521262.1:c.280C>G	8.37:g.56985729G>C	ENSP00000427788:p.Pro94Ala					RPS20_uc003xsm.2_Missense_Mutation_p.P94A	p.P94A	NM_001023	NP_001014	P60866	RS20_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		4	478	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	94					B2R4F4|B4DW28|P17075|Q5M8S9	Missense_Mutation	SNP	ENST00000521262.1	37	c.280C>G		.	.	.	.	.	.	.	.	.	.	G	18.97	3.735945	0.69189	.	.	ENSG00000008988	ENST00000519807;ENST00000009589;ENST00000524349;ENST00000521262;ENST00000520627	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.73999	0.3659	M	0.69463	2.115	0.80722	D	1	B;P	0.51933	0.124;0.949	B;P	0.55222	0.113;0.771	T	0.77115	-0.2707	9	0.62326	D	0.03	-29.8712	18.5292	0.90984	0.0:0.0:1.0:0.0	.	94;94	P60866;B4DW28	RS20_HUMAN;.	A	94;94;39;94;39	.	ENSP00000009589:P94A	P	-	1	0	RPS20	57148283	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	9.669000	0.98622	2.355000	0.79922	0.591000	0.81541	CCT		PASS	0.398	RPS20-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378166.1	NM_001023		17	93	17	93	---	---	---	---
OXR1	55074	broad.mit.edu	37	8	107719314	107719314	+	Missense_Mutation	SNP	A	A	G			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr8:107719314A>G	ENST00000442977.2	+	8	1667	c.1568A>G	c.(1567-1569)cAa>cGa	p.Q523R	OXR1_ENST00000452423.2_Missense_Mutation_p.Q12R|OXR1_ENST00000445937.1_Missense_Mutation_p.Q522R|OXR1_ENST00000497705.1_Missense_Mutation_p.Q455R|OXR1_ENST00000517566.2_Missense_Mutation_p.Q522R|OXR1_ENST00000531443.1_Missense_Mutation_p.Q522R|OXR1_ENST00000312046.6_Missense_Mutation_p.Q515R	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	523					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)	p.Q434R(1)|p.Q523R(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GAAAATATTCAACAAGTGTCA	0.363																																						uc011lht.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1567-1569)CAA>CGA		oxidation resistance 1 isoform 1							82.0	81.0	81.0					8																	107719314		2203	4300	6503	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107719314A>G	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.1568A>G	8.37:g.107719314A>G	ENSP00000405424:p.Gln523Arg					OXR1_uc003ymf.2_Missense_Mutation_p.Q522R|OXR1_uc011lhu.1_Missense_Mutation_p.Q515R|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_Missense_Mutation_p.Q220R|OXR1_uc003ymg.1_Missense_Mutation_p.Q455R|OXR1_uc003ymi.1_Missense_Mutation_p.Q434R	p.Q523R	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		8	1667	+			523					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.1568A>G	CCDS56548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.2|23.2	4.382382|4.382382	0.82792|0.82792	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000519415|ENST00000445937;ENST00000531443;ENST00000517566;ENST00000452423;ENST00000442977;ENST00000497705;ENST00000312046	.|T;T;T;T;T;T;T	.|0.28895	.|2.7;2.7;2.7;2.18;2.7;1.59;2.69	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.138480	.|0.48286	.|D	.|0.000194	T|T	0.50888|0.50888	0.1642|0.1642	M|M	0.73598|0.73598	2.24|2.24	0.38785|0.38785	D|D	0.954869|0.954869	.|P;P;P;D;P	.|0.53745	.|0.835;0.745;0.745;0.962;0.835	.|B;B;B;P;P	.|0.56514	.|0.39;0.218;0.218;0.8;0.576	T|T	0.57069|0.57069	-0.7874|-0.7874	5|10	.|0.49607	.|T	.|0.09	-29.1176|-29.1176	15.8102|15.8102	0.78557|0.78557	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|515;523;522;455;522	.|Q8N573-2;Q8N573;D3HIS6;Q8N573-3;Q8N573-5	.|.;OXR1_HUMAN;.;.;.	D|R	236|522;522;522;12;523;455;515	.|ENSP00000402918:Q522R;ENSP00000431966:Q522R;ENSP00000429205:Q522R;ENSP00000395032:Q12R;ENSP00000405424:Q523R;ENSP00000431014:Q455R;ENSP00000311026:Q515R	.|ENSP00000311026:Q515R	N|Q	+|+	1|2	0|0	OXR1|OXR1	107788490|107788490	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	8.453000|8.453000	0.90349|0.90349	2.141000|2.141000	0.66446|0.66446	0.482000|0.482000	0.46254|0.46254	AAC|CAA		PASS	0.363	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		24	30	24	30	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113256656	113256656	+	Missense_Mutation	SNP	T	T	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr8:113256656T>A	ENST00000297405.5	-	65	10613	c.10369A>T	c.(10369-10371)Aac>Tac	p.N3457Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.N3288Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.N3417Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.N3387Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3457	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N3417Y(1)|p.N3457Y(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCCAGGTGTTATCGGATCTA	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(10369-10371)AAC>TAC		CUB and Sushi multiple domains 3 isoform 1							122.0	110.0	114.0					8																	113256656		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113256656T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10369A>T	8.37:g.113256656T>A	ENSP00000297405:p.Asn3457Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.N2659Y|CSMD3_uc003ynt.2_Missense_Mutation_p.N3417Y|CSMD3_uc011lhx.1_Missense_Mutation_p.N3288Y	p.N3457Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			65	10528	-			3457			Extracellular (Potential).|Sushi 28.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10369A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.912439	0.52439	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.37	5.37	0.77165	Complement control module (2);Sushi/SCR/CCP (3);	0.337500	0.27686	N	0.018264	T	0.45155	0.1328	L	0.37561	1.115	0.38731	D	0.953663	B;P;B	0.36660	0.222;0.564;0.244	B;P;B	0.50378	0.317;0.639;0.273	T	0.52601	-0.8554	10	0.72032	D	0.01	.	7.9174	0.29827	0.0:0.1177:0.0:0.8823	.	3288;3457;3417	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	3417;3457;2727;3288;3387	ENSP00000345799:N3417Y;ENSP00000297405:N3457Y;ENSP00000341558:N2727Y;ENSP00000412263:N3288Y;ENSP00000343124:N3387Y	ENSP00000297405:N3457Y	N	-	1	0	CSMD3	113325832	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	3.802000	0.55553	2.254000	0.74563	0.482000	0.46254	AAC		PASS	0.418	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		40	31	40	31	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113256659	113256659	+	Missense_Mutation	SNP	C	C	G	rs376197025		TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr8:113256659C>G	ENST00000297405.5	-	65	10610	c.10366G>C	c.(10366-10368)Gat>Cat	p.D3456H	CSMD3_ENST00000455883.2_Missense_Mutation_p.D3287H|CSMD3_ENST00000343508.3_Missense_Mutation_p.D3416H|CSMD3_ENST00000352409.3_Missense_Mutation_p.D3386H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3456	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D3456H(1)|p.D3416H(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGGTGTTATCGGATCTACAC	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(10366-10368)GAT>CAT		CUB and Sushi multiple domains 3 isoform 1							123.0	111.0	115.0					8																	113256659		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113256659C>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10366G>C	8.37:g.113256659C>G	ENSP00000297405:p.Asp3456His	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.D2658H|CSMD3_uc003ynt.2_Missense_Mutation_p.D3416H|CSMD3_uc011lhx.1_Missense_Mutation_p.D3287H	p.D3456H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			65	10525	-			3456			Extracellular (Potential).|Sushi 28.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10366G>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562182	0.86335	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	5.37	5.37	0.77165	Complement control module (2);Sushi/SCR/CCP (3);	0.174608	0.37623	N	0.002013	D	0.87095	0.6092	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	D	0.89843	0.4004	10	0.87932	D	0	.	19.3052	0.94158	0.0:1.0:0.0:0.0	.	3287;3456;3416	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	3416;3456;2726;3287;3386	ENSP00000345799:D3416H;ENSP00000297405:D3456H;ENSP00000341558:D2726H;ENSP00000412263:D3287H;ENSP00000343124:D3386H	ENSP00000297405:D3456H	D	-	1	0	CSMD3	113325835	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.458000	0.80787	2.793000	0.96121	0.591000	0.81541	GAT		PASS	0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		39	31	39	31	---	---	---	---
TBC1D31	93594	broad.mit.edu	37	8	124132320	124132320	+	Missense_Mutation	SNP	T	T	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr8:124132320T>A	ENST00000287380.1	+	11	1552	c.1462T>A	c.(1462-1464)Tct>Act	p.S488T	TBC1D31_ENST00000378080.2_Missense_Mutation_p.S383T|TBC1D31_ENST00000309336.3_Missense_Mutation_p.S488T|TBC1D31_ENST00000521676.1_Missense_Mutation_p.S365T|TBC1D31_ENST00000518805.1_Missense_Mutation_p.S121T|TBC1D31_ENST00000327098.5_Missense_Mutation_p.S488T|TBC1D31_ENST00000522420.1_Missense_Mutation_p.S383T	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	488	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)	p.S488T(1)									AGCTCACTGGTCTGTCATTTT	0.294																																						uc003ypp.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1462-1464)TCT>ACT		WD repeat domain 67 isoform 1							107.0	92.0	97.0					8																	124132320		2203	4297	6500	SO:0001583	missense	93594					centrosome	Rab GTPase activator activity	g.chr8:124132320T>A	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1462T>A	8.37:g.124132320T>A	ENSP00000287380:p.Ser488Thr					WDR67_uc011lig.1_Missense_Mutation_p.S488T|WDR67_uc011lih.1_Missense_Mutation_p.S378T|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.S201T	p.S488T	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		11	1552	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		488			Rab-GAP TBC.		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	c.1462T>A	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.168491	0.78339	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080;ENST00000518805	T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.87	5.87	0.94306	Rab-GAP/TBC domain (2);	0.054709	0.85682	D	0.000000	T	0.56949	0.2020	M	0.77103	2.36	0.51767	D	0.999933	D;D;D	0.71674	0.977;0.998;0.987	P;D;D	0.69654	0.875;0.965;0.965	T	0.59894	-0.7368	10	0.54805	T	0.06	-22.2615	16.2718	0.82624	0.0:0.0:0.0:1.0	.	488;383;488	B7ZL19;E7ERK7;Q96DN5	.;.;WDR67_HUMAN	T	488;488;488;383;365;383;121	ENSP00000287380:S488T;ENSP00000308358:S488T;ENSP00000312701:S488T;ENSP00000429334:S383T;ENSP00000430628:S365T;ENSP00000367320:S383T;ENSP00000429494:S121T	ENSP00000287380:S488T	S	+	1	0	WDR67	124201501	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	4.206000	0.58473	2.239000	0.73571	0.528000	0.53228	TCT		PASS	0.294	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		37	26	37	26	---	---	---	---
PHF20L1	51105	broad.mit.edu	37	8	133844622	133844622	+	Silent	SNP	A	A	G			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr8:133844622A>G	ENST00000395386.2	+	15	2186	c.1887A>G	c.(1885-1887)ctA>ctG	p.L629L	PHF20L1_ENST00000395390.2_Silent_p.L604L|PHF20L1_ENST00000220847.7_Silent_p.L16L	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	629							zinc ion binding (GO:0008270)	p.L629L(1)|p.L603L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GGGCAATTCTATCCGTTGATC	0.403																																						uc003ytt.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1885-1887)CTA>CTG		PHD finger protein 20-like 1 isoform 1							138.0	125.0	129.0					8																	133844622		1884	4111	5995	SO:0001819	synonymous_variant	51105						nucleic acid binding|zinc ion binding	g.chr8:133844622A>G	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1887A>G	8.37:g.133844622A>G						PHF20L1_uc011lja.1_Silent_p.L603L	p.L629L	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		15	2212	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		629					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Silent	SNP	ENST00000395386.2	37	c.1887A>G	CCDS6367.2																																																																																				PASS	0.403	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		13	83	13	83	---	---	---	---
FAM154A	158297	broad.mit.edu	37	9	18950777	18950777	+	Missense_Mutation	SNP	A	A	G			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr9:18950777A>G	ENST00000380534.4	-	2	476	c.197T>C	c.(196-198)aTg>aCg	p.M66T	FAM154A_ENST00000583128.1_5'UTR|FAM154A_ENST00000380530.1_Missense_Mutation_p.M66T|FAM154A_ENST00000542071.1_5'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	66								p.M66T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CAGGCCTTCCATTGGTATAGG	0.443																																						uc003zni.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(196-198)ATG>ACG		hypothetical protein LOC158297							203.0	184.0	190.0					9																	18950777		2203	4300	6503	SO:0001583	missense	158297							g.chr9:18950777A>G	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.197T>C	9.37:g.18950777A>G	ENSP00000369907:p.Met66Thr					FAM154A_uc010mip.1_5'UTR	p.M66T	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	2	475	-			66					Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	c.197T>C	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	A	15.22	2.768515	0.49680	.	.	ENSG00000155875	ENST00000380534;ENST00000380530	T;T	0.33216	1.42;1.42	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000003	T	0.44808	0.1311	M	0.81802	2.56	0.80722	D	1	P	0.42010	0.768	P	0.46026	0.501	T	0.51710	-0.8671	10	0.87932	D	0	-24.2719	13.1212	0.59327	1.0:0.0:0.0:0.0	.	66	Q8IYX7	F154A_HUMAN	T	66	ENSP00000369907:M66T;ENSP00000369902:M66T	ENSP00000369902:M66T	M	-	2	0	FAM154A	18940777	1.000000	0.71417	0.976000	0.42696	0.436000	0.31835	5.314000	0.65804	1.984000	0.57885	0.459000	0.35465	ATG		PASS	0.443	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		116	17	116	17	---	---	---	---
FRMPD1	22844	broad.mit.edu	37	9	37729734	37729734	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr9:37729734C>A	ENST00000539465.1	+	8	1215	c.622C>A	c.(622-624)Ctc>Atc	p.L208I	FRMPD1_ENST00000536622.1_Missense_Mutation_p.L30I|FRMPD1_ENST00000377765.3_Missense_Mutation_p.L208I|FRMPD1_ENST00000541302.1_Missense_Mutation_p.L77I|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	208	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.L208I(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGACATCATCCTCACCGTGAA	0.557																																						uc004aag.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(622-624)CTC>ATC		FERM and PDZ domain containing 1							123.0	107.0	113.0					9																	37729734		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37729734C>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.622C>A	9.37:g.37729734C>A	ENSP00000444411:p.Leu208Ile					FRMPD1_uc004aah.1_Missense_Mutation_p.L208I|FRMPD1_uc011lqm.1_Missense_Mutation_p.L30I|FRMPD1_uc011lqn.1_Missense_Mutation_p.L77I	p.L208I	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	8	666	+			208			FERM.		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.622C>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466156	0.63625	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.64	4.74	0.60224	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.191645	0.44902	D	0.000420	T	0.79155	0.4398	M	0.72894	2.215	0.49299	D	0.999774	P;P	0.44344	0.737;0.833	P;P	0.47941	0.516;0.562	T	0.79514	-0.1772	10	0.56958	D	0.05	-11.5488	8.0086	0.30340	0.0:0.7536:0.1625:0.0839	.	77;208	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	I	208;208;30;77	ENSP00000366995:L208I;ENSP00000444411:L208I;ENSP00000437762:L30I;ENSP00000444804:L77I	ENSP00000366995:L208I	L	+	1	0	FRMPD1	37719734	0.992000	0.36948	1.000000	0.80357	0.953000	0.61014	1.331000	0.33793	1.380000	0.46344	0.655000	0.94253	CTC		PASS	0.557	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		73	14	73	14	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	118997489	118997489	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr9:118997489C>T	ENST00000328252.3	+	7	2674	c.2305C>T	c.(2305-2307)Cac>Tac	p.H769Y	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	769					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.H769Y(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTCAACCCACACACGGTTCC	0.552																																						uc004bjn.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|pancreas(1)	9						c.(2305-2307)CAC>TAC		pregnancy-associated plasma protein A							117.0	96.0	103.0					9																	118997489		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118997489C>T		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2305C>T	9.37:g.118997489C>T	ENSP00000330658:p.His769Tyr					PAPPA_uc011lxp.1_Missense_Mutation_p.H464Y|PAPPA_uc011lxq.1_Intron	p.H769Y	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			7	2686	+			769					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.2305C>T	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495288	0.44352	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.01854	4.6	6.04	6.04	0.98038	.	0.231494	0.52532	D	0.000071	T	0.04815	0.0130	L	0.51422	1.61	0.80722	D	1	D;D	0.56521	0.976;0.976	P;P	0.47915	0.561;0.558	T	0.54682	-0.8257	10	0.07325	T	0.83	-20.978	20.5948	0.99439	0.0:1.0:0.0:0.0	.	213;769	E7EMD3;Q13219	.;PAPP1_HUMAN	Y	769;213	ENSP00000330658:H769Y	ENSP00000330658:H769Y	H	+	1	0	PAPPA	118037310	0.999000	0.42202	1.000000	0.80357	0.851000	0.48451	3.382000	0.52463	2.873000	0.98535	0.563000	0.77884	CAC		PASS	0.552	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		94	43	94	43	---	---	---	---
LCN2	3934	broad.mit.edu	37	9	130911868	130911868	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr9:130911868G>T	ENST00000373017.1	+	2	301	c.64G>T	c.(64-66)Gac>Tac	p.D22Y	LCN2_ENST00000277480.2_Missense_Mutation_p.D22Y|LCN2_ENST00000540948.1_Missense_Mutation_p.D22Y|LCN2_ENST00000373013.2_Missense_Mutation_p.D22Y|LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000372998.1_Missense_Mutation_p.D22Y			P80188	NGAL_HUMAN	lipocalin 2	22					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|small molecule binding (GO:0036094)|transporter activity (GO:0005215)	p.D22Y(1)		central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						CCAGGCCCAGGACTCCACCTC	0.637																																						uc004bto.1																			1	Substitution - Missense(1)		lung(1)		0						c.(64-66)GAC>TAC		lipocalin 2 precursor							75.0	76.0	76.0					9																	130911868		2203	4300	6503	SO:0001583	missense	3934				apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity	g.chr9:130911868G>T		CCDS6892.1	9q34	2011-10-24	2007-12-18		ENSG00000148346	ENSG00000148346		"""Lipocalins"""	6526	protein-coding gene	gene with protein product	"""oncogene 24p3"", ""neutrophil gelatinase-associated lipocalin"", ""siderocalin"""	600181	"""lipocalin 2 (oncogene 24p3)"""			7683678	Standard	NM_005564		Approved	NGAL, 24p3	uc004bto.1	P80188	OTTHUMG00000020734	ENST00000373017.1:c.64G>T	9.37:g.130911868G>T	ENSP00000362108:p.Asp22Tyr					LCN2_uc010mxq.1_Missense_Mutation_p.D22Y|LCN2_uc011map.1_Missense_Mutation_p.D22Y	p.D22Y	NM_005564	NP_005555	P80188	NGAL_HUMAN			1	137	+			22					A6NII8|B4DWV4|B7ZAA2|P30150|Q5SYV9|Q5SYW0|Q6FGL5|Q92683	Missense_Mutation	SNP	ENST00000373017.1	37	c.64G>T	CCDS6892.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608924	0.46527	.	.	ENSG00000148346	ENST00000373017;ENST00000277480;ENST00000373013;ENST00000540948;ENST00000372998	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	3.23	-1.52	0.08637	Calycin (1);	0.864476	0.09820	N	0.751622	T	0.28134	0.0694	L	0.57536	1.79	0.23754	N	0.996935	D;D;D	0.58970	0.984;0.973;0.973	P;B;B	0.50825	0.651;0.426;0.426	T	0.16305	-1.0407	10	0.48119	T	0.1	0.1481	3.0616	0.06201	0.3917:0.0:0.4175:0.1909	.	22;23;22	P80188-2;B2ZDQ1;P80188	.;.;NGAL_HUMAN	Y	22	ENSP00000362108:D22Y;ENSP00000277480:D22Y;ENSP00000362104:D22Y;ENSP00000441666:D22Y;ENSP00000362089:D22Y	ENSP00000277480:D22Y	D	+	1	0	LCN2	129951689	0.010000	0.17322	0.370000	0.25965	0.503000	0.33858	0.131000	0.15870	-0.295000	0.08960	0.456000	0.33151	GAC		PASS	0.637	LCN2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054375.1	NM_005564		27	70	27	70	---	---	---	---
ITIH5	80760	broad.mit.edu	37	10	7682733	7682733	+	Missense_Mutation	SNP	T	T	G			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr10:7682733T>G	ENST00000256861.6	-	4	463	c.385A>C	c.(385-387)Acc>Ccc	p.T129P	ITIH5_ENST00000397146.2_Missense_Mutation_p.T129P|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.T129P|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	129	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T129P(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCTTCTGTGGTTTTATTCCTT	0.373																																						uc001ijq.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)	4						c.(385-387)ACC>CCC		inter-alpha trypsin inhibitor heavy chain							264.0	250.0	255.0					10																	7682733		2202	4300	6502	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7682733T>G			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.385A>C	10.37:g.7682733T>G	ENSP00000256861:p.Thr129Pro					ITIH5_uc001ijr.1_Missense_Mutation_p.T129P	p.T129P	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			4	464	-			129			VIT.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.385A>C		.	.	.	.	.	.	.	.	.	.	T	15.02	2.709540	0.48517	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.24350	1.86;1.86;1.86	5.71	4.58	0.56647	Vault protein inter-alpha-trypsin (2);	1.711510	0.02791	N	0.122036	T	0.46308	0.1386	.	.	.	0.28927	N	0.891773	B;D	0.61697	0.062;0.99	B;P	0.61800	0.038;0.894	T	0.02885	-1.1098	9	0.56958	D	0.05	-41.0245	6.6203	0.22800	0.0:0.0815:0.199:0.7196	.	129;129	G5E9D8;Q86UX2	.;ITIH5_HUMAN	P	129	ENSP00000256861:T129P;ENSP00000380333:T129P;ENSP00000380332:T129P	ENSP00000256861:T129P	T	-	1	0	ITIH5	7722739	1.000000	0.71417	0.987000	0.45799	0.889000	0.51656	2.378000	0.44309	0.978000	0.38470	0.460000	0.39030	ACC		PASS	0.373	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		46	50	46	50	---	---	---	---
GAD2	2572	broad.mit.edu	37	10	26589812	26589812	+	Silent	SNP	C	C	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr10:26589812C>A	ENST00000376261.3	+	16	2183	c.1680C>A	c.(1678-1680)gtC>gtA	p.V560V	GAD2_ENST00000259271.3_Silent_p.V560V	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	560					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.V560V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCCGCATGGTCATCTCAAACC	0.458																																						uc001isp.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1678-1680)GTC>GTA		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						191.0	171.0	178.0					10																	26589812		2203	4300	6503	SO:0001819	synonymous_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26589812C>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1680C>A	10.37:g.26589812C>A						GAD2_uc001isq.2_Silent_p.V560V	p.V560V	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			16	2183	+			560					Q9UD87	Silent	SNP	ENST00000376261.3	37	c.1680C>A	CCDS7149.1																																																																																				PASS	0.458	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		50	68	50	68	---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85973973	85973973	+	Missense_Mutation	SNP	C	C	T	rs141706561		TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr10:85973973C>T	ENST00000372117.3	+	17	2279	c.2176C>T	c.(2176-2178)Cgc>Tgc	p.R726C	CDHR1_ENST00000440770.2_Missense_Mutation_p.R430C|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	726					cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)	p.R726C(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CACCTTCTGGCGCAACAAGAA	0.637																																						uc001kcv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2176-2178)CGC>TGC		protocadherin 21 precursor		C	,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	61.0	67.0	65.0		,2176	5.5	1.0	10	dbSNP_134	65	7,8591	5.7+/-21.5	0,7,4292	yes	intron,missense	CDHR1	NM_001171971.1,NM_033100.2	,180	0,8,6494	TT,TC,CC		0.0814,0.0227,0.0615	,probably-damaging	,726/860	85973973	8,12996	2203	4299	6502	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85973973C>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2176C>T	10.37:g.85973973C>T	ENSP00000361189:p.Arg726Cys					CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Missense_Mutation_p.R430C|CDHR1_uc001kcx.2_Missense_Mutation_p.R40C	p.R726C	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN			17	2176	+			726			Cytoplasmic (Potential).		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.2176C>T	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941882	0.92526	2.27E-4	8.14E-4	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.60672	0.4;0.17	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.76933	0.4057	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.78494	-0.2182	10	0.62326	D	0.03	-16.5148	18.2273	0.89921	0.0:1.0:0.0:0.0	.	430;726	E7EN47;Q96JP9	.;CDHR1_HUMAN	C	726;430	ENSP00000361189:R726C;ENSP00000415980:R430C	ENSP00000361189:R726C	R	+	1	0	CDHR1	85963953	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.536000	0.60636	2.596000	0.87737	0.561000	0.74099	CGC		PASS	0.637	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		20	47	20	47	---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103917285	103917285	+	Missense_Mutation	SNP	G	G	C			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr10:103917285G>C	ENST00000605788.1	+	4	649	c.414G>C	c.(412-414)gaG>gaC	p.E138D	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_Missense_Mutation_p.E139D|NOLC1_ENST00000405356.1_Missense_Mutation_p.E138D	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	138	11 X 12 AA approximate repeats of an acidic serine cluster.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)	p.E138D(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		ATGATGATGAGGAGGACCAAA	0.493																																						uc001kuo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(412-414)GAG>GAC		nucleolar and coiled-body phosphoprotein 1							56.0	54.0	54.0					10																	103917285		2203	4300	6503	SO:0001583	missense	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103917285G>C	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.414G>C	10.37:g.103917285G>C	ENSP00000474710:p.Glu138Asp					NOLC1_uc001kup.2_Missense_Mutation_p.E138D|NOLC1_uc001kuq.2_Missense_Mutation_p.E139D|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_Intron	p.E138D	NM_004741	NP_004732	Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	4	649	+		Colorectal(252;0.122)	138			11 X 12 AA approximate repeats of an acidic serine cluster.		Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	ENST00000605788.1	37	c.414G>C	CCDS7530.1	.	.	.	.	.	.	.	.	.	.	G	2.783	-0.253125	0.05829	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.55930	0.49	5.68	-2.6	0.06190	.	0.167015	0.42172	D	0.000755	T	0.39172	0.1068	L	0.59436	1.845	0.09310	N	0.999999	B;B;B	0.15141	0.012;0.012;0.007	B;B;B	0.16722	0.016;0.016;0.007	T	0.25293	-1.0136	10	0.23891	T	0.37	-28.7543	6.7084	0.23264	0.4122:0.2242:0.3635:0.0	.	139;138;138	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	D	138	ENSP00000385410:E138D	ENSP00000359024:E138D	E	+	3	2	NOLC1	103907275	0.657000	0.27393	0.257000	0.24404	0.026000	0.11368	-0.168000	0.09925	-0.132000	0.11557	-0.175000	0.13238	GAG		PASS	0.493	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		12	18	12	18	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1262892	1262892	+	Silent	SNP	G	G	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr11:1262892G>A	ENST00000529681.1	+	31	4840	c.4782G>A	c.(4780-4782)cgG>cgA	p.R1594R	MUC5B_ENST00000447027.1_Silent_p.R1597R|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1594	7 X Cys-rich subdomain repeats.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.R1597R(1)|p.R1594R(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAGGATCCGGGTCCTCTGCT	0.637																																						uc009ycr.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(6859-6861)CGG>CGA		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							23.0	30.0	28.0					11																	1262892		2129	4223	6352	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1262892G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.4782G>A	11.37:g.1262892G>A						MUC5B_uc001ltb.2_Silent_p.R1597R	p.R2287R	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	47	6987	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1594			7 X Cys-rich subdomain repeats.|Cys-rich subdomain 2.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.6861G>A	CCDS44515.2																																																																																				PASS	0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		10	1	10	1	---	---	---	---
HBB	3043	broad.mit.edu	37	11	5247920	5247920	+	Missense_Mutation	SNP	C	C	A	rs36008922|rs193922553		TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr11:5247920C>A	ENST00000335295.4	-	2	251	c.202G>T	c.(202-204)Gtg>Ttg	p.V68L	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	68			V -> A (in Sydney; unstable).|V -> D (in Bristol). {ECO:0000269|PubMed:8704193}.|V -> G (in non-spherocytic haemolytic anemia; Manukau; dbSNP:rs33918343). {ECO:0000269|PubMed:8280608}.|V -> M (in Alesha; unstable). {ECO:0000269|PubMed:8330974}.		bicarbonate transport (GO:0015701)|blood coagulation (GO:0007596)|hydrogen peroxide catabolic process (GO:0042744)|nitric oxide transport (GO:0030185)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|platelet aggregation (GO:0070527)|positive regulation of cell death (GO:0010942)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein heterooligomerization (GO:0051291)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|renal absorption (GO:0070293)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|hemoglobin binding (GO:0030492)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.V68L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	GCACCGAGCACTTTCTTGCCA	0.552									Sickle Cell Trait																													uc001mae.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1	GRCh37	CM930373	HBB	M	rs36008922	c.(202-204)GTG>TTG		beta globin	Iron Dextran(DB00893)						162.0	141.0	148.0					11																	5247920		2201	4298	6499	SO:0001583	missense	3043	Sickle_Cell_Trait	Familial Cancer Database		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity	g.chr11:5247920C>A	J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734			4827	protein-coding gene	gene with protein product		141900				2649166	Standard	NM_000518		Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.202G>T	11.37:g.5247920C>A	ENSP00000333994:p.Val68Leu						p.V68L	NM_000518	NP_000509	P68871	HBB_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	252	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	68		V -> D (in Bristol).|V -> A (in Sydney; unstable).|V -> M (in Alesha; unstable).			A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Missense_Mutation	SNP	ENST00000335295.4	37	c.202G>T	CCDS7753.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.050303	0.75846	.	.	ENSG00000244734	ENST00000335295;ENST00000380315	D;D	0.96334	-3.98;-3.68	5.1	5.1	0.69264	Globin-like (1);Globin, structural domain (1);	.	.	.	.	D	0.98592	0.9529	H	0.95079	3.62	0.58432	D	0.999999	D	0.67145	0.996	D	0.64237	0.923	D	0.99395	1.0926	9	0.87932	D	0	-18.0281	17.6123	0.88058	0.0:1.0:0.0:0.0	.	68	P68871	HBB_HUMAN	L	68	ENSP00000333994:V68L;ENSP00000369671:V68L	ENSP00000333994:V68L	V	-	1	0	HBB	5204496	0.999000	0.42202	0.993000	0.49108	0.622000	0.37654	4.186000	0.58337	2.812000	0.96745	0.555000	0.69702	GTG		PASS	0.552	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142977.2	NM_000518		87	13	87	13	---	---	---	---
C11orf16	56673	broad.mit.edu	37	11	8950936	8950936	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr11:8950936C>A	ENST00000326053.5	-	3	418	c.312G>T	c.(310-312)aaG>aaT	p.K104N	C11orf16_ENST00000528998.1_5'UTR|C11orf16_ENST00000525780.1_Missense_Mutation_p.K104N	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	104								p.K104N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CGGGAGTGGCCTTTATTTGGG	0.577																																						uc001mhb.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(310-312)AAG>AAT		hypothetical protein LOC56673							109.0	104.0	106.0					11																	8950936		2201	4296	6497	SO:0001583	missense	56673							g.chr11:8950936C>A	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.312G>T	11.37:g.8950936C>A	ENSP00000318999:p.Lys104Asn					C11orf16_uc001mhc.3_Missense_Mutation_p.K104N	p.K104N	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	3	436	-			104					Q53FB2|Q8N6Y9	Missense_Mutation	SNP	ENST00000326053.5	37	c.312G>T	CCDS7794.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560750	0.45590	.	.	ENSG00000176029	ENST00000525780;ENST00000326053;ENST00000526227	T;T	0.26067	1.76;1.76	4.66	2.79	0.32731	.	0.000000	0.64402	D	0.000008	T	0.43188	0.1236	M	0.69823	2.125	0.30623	N	0.758265	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.40553	-0.9557	10	0.59425	D	0.04	-29.822	5.5886	0.17289	0.0:0.7199:0.0:0.2801	.	104;104	Q9NQ32-2;Q9NQ32	.;CK016_HUMAN	N	104	ENSP00000436818:K104N;ENSP00000318999:K104N	ENSP00000318999:K104N	K	-	3	2	C11orf16	8907512	0.627000	0.27129	0.984000	0.44739	0.439000	0.31926	0.806000	0.27126	1.308000	0.44962	0.655000	0.94253	AAG		PASS	0.577	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		3	45	3	45	---	---	---	---
OR1S1	219959	broad.mit.edu	37	11	57982553	57982553	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr11:57982553C>A	ENST00000309433.6	+	1	337	c.337C>A	c.(337-339)Cag>Aag	p.Q113K		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q113K(1)		breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CTGCATCACACAGATGTACTT	0.428																																						uc010rkc.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(337-339)CAG>AAG		olfactory receptor, family 1, subfamily S,							188.0	178.0	182.0					11																	57982553		2201	4296	6497	SO:0001583	missense	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982553C>A	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.337C>A	11.37:g.57982553C>A	ENSP00000311688:p.Gln113Lys						p.Q113K	NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN			1	337	+		Breast(21;0.0589)	113			Extracellular (Potential).		Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	c.337C>A	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597452	0.66332	.	.	ENSG00000172774	ENST00000309433	T	0.01963	4.53	3.45	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000277	T	0.22781	0.0550	H	0.98682	4.3	0.40931	D	0.984396	D	0.71674	0.998	D	0.81914	0.995	T	0.51576	-0.8688	10	0.87932	D	0	.	14.1	0.65049	0.0:1.0:0.0:0.0	.	113	Q8NH92	OR1S1_HUMAN	K	113	ENSP00000311688:Q113K	ENSP00000311688:Q113K	Q	+	1	0	OR1S1	57739129	1.000000	0.71417	0.958000	0.39756	0.620000	0.37586	7.141000	0.77330	1.770000	0.52166	0.479000	0.44913	CAG		PASS	0.428	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		66	49	66	49	---	---	---	---
OR10Q1	219960	broad.mit.edu	37	11	57995570	57995570	+	Missense_Mutation	SNP	A	A	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr11:57995570A>T	ENST00000316770.2	-	1	820	c.778T>A	c.(778-780)Tgc>Agc	p.C260S		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C260S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				ACGAGGCTGCAGCAGCCATAC	0.617																																						uc010rkd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(778-780)TGC>AGC		olfactory receptor, family 10, subfamily Q,							60.0	55.0	56.0					11																	57995570		2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995570A>T	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.778T>A	11.37:g.57995570A>T	ENSP00000314324:p.Cys260Ser						p.C260S	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			1	778	-		Breast(21;0.0589)	260			Helical; Name=6; (Potential).		Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.778T>A	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	A	10.22	1.290148	0.23478	.	.	ENSG00000180475	ENST00000316770	T	0.00084	8.75	4.88	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000290	T	0.00178	0.0005	L	0.41027	1.25	0.09310	N	1	P	0.46020	0.871	P	0.49799	0.622	T	0.38222	-0.9671	10	0.56958	D	0.05	.	1.9681	0.03400	0.5841:0.1665:0.0892:0.1602	.	260	Q8NGQ4	O10Q1_HUMAN	S	260	ENSP00000314324:C260S	ENSP00000314324:C260S	C	-	1	0	OR10Q1	57752146	0.000000	0.05858	0.693000	0.30195	0.011000	0.07611	-0.714000	0.05002	0.898000	0.36418	-0.361000	0.07541	TGC		PASS	0.617	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		22	44	22	44	---	---	---	---
UBXN1	51035	broad.mit.edu	37	11	62445480	62445480	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr11:62445480G>A	ENST00000301935.5	-	5	567	c.401C>T	c.(400-402)gCa>gTa	p.A134V	UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000294119.2_Missense_Mutation_p.A134V|UBXN1_ENST00000533000.1_5'Flank|UBXN1_ENST00000529640.1_Missense_Mutation_p.A134V			Q04323	UBXN1_HUMAN	UBX domain protein 1	134	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.A134V(1)		endometrium(5)|lung(12)	17						CCGCTGTCGTGCTGCTGACAA	0.617																																						uc001nul.1																			1	Substitution - Missense(1)		lung(1)		0						c.(400-402)GCA>GTA		UBX domain protein 1							88.0	69.0	75.0					11																	62445480		2202	4299	6501	SO:0001583	missense	51035				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	g.chr11:62445480G>A		CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"""UBX domain containing"""	18402	protein-coding gene	gene with protein product	"""SAPK substrate protein 1"""					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.401C>T	11.37:g.62445480G>A	ENSP00000303991:p.Ala134Val					UBXN1_uc001nuj.2_Missense_Mutation_p.A134V|UBXN1_uc001num.1_Missense_Mutation_p.A134V|UBXN1_uc001nuk.2_Missense_Mutation_p.A99V|UBXN1_uc010rme.1_Missense_Mutation_p.A134V|UBXN1_uc010rmf.1_3'UTR	p.A134V	NM_015853	NP_056937	Q04323	UBXN1_HUMAN			5	533	-			134			Potential.|Interaction with BRCA1.		Q9BV93|Q9BVV5	Missense_Mutation	SNP	ENST00000301935.5	37	c.401C>T		.	.	.	.	.	.	.	.	.	.	G	13.59	2.282060	0.40394	.	.	ENSG00000162191	ENST00000294119;ENST00000301935;ENST00000537534;ENST00000529640;ENST00000534176	T;T;T;T	0.25749	1.81;1.78;1.78;1.79	5.31	5.31	0.75309	.	0.114692	0.64402	D	0.000007	T	0.17365	0.0417	L	0.43598	1.365	0.34583	D	0.714628	B;B;B;B	0.33022	0.024;0.004;0.06;0.394	B;B;B;B	0.30782	0.012;0.002;0.017;0.12	T	0.06935	-1.0799	10	0.02654	T	1	-9.5493	10.6439	0.45608	0.0885:0.0:0.9115:0.0	.	134;134;134;134	B4DNC6;E9PRQ7;Q04323;Q04323-2	.;.;UBXN1_HUMAN;.	V	134;134;37;134;134	ENSP00000294119:A134V;ENSP00000303991:A134V;ENSP00000435964:A134V;ENSP00000435625:A134V	ENSP00000294119:A134V	A	-	2	0	UBXN1	62202056	0.924000	0.31332	0.320000	0.25306	0.992000	0.81027	3.398000	0.52579	2.873000	0.98535	0.561000	0.74099	GCA		PASS	0.617	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	NM_015853		15	58	15	58	---	---	---	---
CCDC88B	283234	broad.mit.edu	37	11	64111617	64111617	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr11:64111617C>T	ENST00000356786.5	+	14	1648	c.1604C>T	c.(1603-1605)cCg>cTg	p.P535L	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'Flank	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	535						membrane (GO:0016020)		p.P535L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGGCTCCCCCGGCATTAGAC	0.632																																						uc001nzy.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1603-1605)CCG>CTG		coiled-coil domain containing 88							59.0	66.0	63.0					11																	64111617		2201	4297	6498	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64111617C>T	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1604C>T	11.37:g.64111617C>T	ENSP00000349238:p.Pro535Leu					CCDC88B_uc009ypo.1_Missense_Mutation_p.P532L|CCDC88B_uc001nzz.1_Missense_Mutation_p.P184L	p.P535L	NM_032251	NP_115627	A6NC98	CC88B_HUMAN			14	1648	+			535					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.1604C>T	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	N	6.829	0.522108	0.13066	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.22945	1.93	3.43	-2.13	0.07144	.	.	.	.	.	T	0.10165	0.0249	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.31336	-0.9947	9	0.26408	T	0.33	.	4.6361	0.12525	0.0:0.3135:0.1975:0.4889	.	535;184;535	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	L	535	ENSP00000349238:P535L	ENSP00000349238:P535L	P	+	2	0	CCDC88B	63868193	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.804000	0.01738	-0.439000	0.07222	-0.696000	0.03686	CCG		PASS	0.632	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		14	109	14	109	---	---	---	---
KDM2A	22992	broad.mit.edu	37	11	66995566	66995566	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr11:66995566G>A	ENST00000529006.2	+	11	1462	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H	KDM2A_ENST00000398645.2_Missense_Mutation_p.R339H|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	339					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.R339H(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GTGTTGGAGCGCTATGTGTAC	0.408																																						uc001ojw.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)|breast(1)|skin(1)	9						c.(1015-1017)CGC>CAC		F-box and leucine-rich repeat protein 11							213.0	207.0	209.0					11																	66995566		1896	4136	6032	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:66995566G>A	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1016G>A	11.37:g.66995566G>A	ENSP00000432786:p.Arg339His					KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.R33H	p.R339H	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN			11	1880	+			339					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.1016G>A	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	G	36	5.649380	0.96714	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.71698	-0.59;-0.59	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.77658	0.4163	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73572	-0.3940	10	0.30854	T	0.27	-23.4384	19.5254	0.95203	0.0:0.0:1.0:0.0	.	339	Q9Y2K7	KDM2A_HUMAN	H	339	ENSP00000381640:R339H;ENSP00000432786:R339H	ENSP00000381640:R339H	R	+	2	0	KDM2A	66752142	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.657000	0.83745	2.857000	0.98124	0.650000	0.86243	CGC		PASS	0.408	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		6	311	6	311	---	---	---	---
PGM2L1	283209	broad.mit.edu	37	11	74049611	74049611	+	Silent	SNP	T	T	C	rs372405187		TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr11:74049611T>C	ENST00000298198.4	-	13	1979	c.1668A>G	c.(1666-1668)acA>acG	p.T556T		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	556					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)	p.T556T(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					GAAAAGTAAATGTAATCATTT	0.383																																						uc001ovb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1666-1668)ACA>ACG		phosphoglucomutase 2-like 1							115.0	101.0	106.0					11																	74049611		2200	4293	6493	SO:0001819	synonymous_variant	283209				glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	g.chr11:74049611T>C	AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1668A>G	11.37:g.74049611T>C							p.T556T	NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN			13	1964	-	Breast(11;3.32e-06)		556					Q96MQ7|Q9UIK3	Silent	SNP	ENST00000298198.4	37	c.1668A>G	CCDS8231.1																																																																																				PASS	0.383	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582		33	87	33	87	---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76867112	76867112	+	Missense_Mutation	SNP	A	A	G			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr11:76867112A>G	ENST00000409709.3	+	5	717	c.445A>G	c.(445-447)Agc>Ggc	p.S149G	MYO7A_ENST00000409893.1_Missense_Mutation_p.S149G|MYO7A_ENST00000409619.2_Missense_Mutation_p.S138G|MYO7A_ENST00000458637.2_Missense_Mutation_p.S149G	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	149	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.S149G(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAAACGCAACAGCCGAGACCA	0.562																																						uc001oyb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(445-447)AGC>GGC		myosin VIIA isoform 1							44.0	45.0	45.0					11																	76867112		2040	4194	6234	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76867112A>G	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.445A>G	11.37:g.76867112A>G	ENSP00000386331:p.Ser149Gly					MYO7A_uc010rsl.1_Missense_Mutation_p.S149G|MYO7A_uc010rsm.1_Missense_Mutation_p.S138G|MYO7A_uc001oyc.2_Missense_Mutation_p.S149G	p.S149G	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			5	717	+			149			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.445A>G	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	a	14.04	2.417516	0.42918	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	5.27	5.27	0.74061	Myosin head, motor domain (2);	0.122439	0.56097	D	0.000028	T	0.47563	0.1452	N	0.02225	-0.63	0.29989	N	0.817037	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.49000	-0.8984	10	0.42905	T	0.14	.	15.3501	0.74376	1.0:0.0:0.0:0.0	.	149;149;149	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	G	149;149;149;138;148;148;148;148	ENSP00000386331:S149G;ENSP00000386689:S149G;ENSP00000392185:S149G;ENSP00000386635:S138G	ENSP00000345075:S148G	S	+	1	0	MYO7A	76544760	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.976000	0.63785	2.213000	0.71641	0.478000	0.44815	AGC		PASS	0.562	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		30	1	30	1	---	---	---	---
ZC3H12C	85463	broad.mit.edu	37	11	110036409	110036409	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr11:110036409G>A	ENST00000278590.3	+	6	2650	c.2599G>A	c.(2599-2601)Gcc>Acc	p.A867T	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.A836T|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.A868T	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	867							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.A867T(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CATGACAGACGCCCAGCAGCT	0.428																																						uc009yxw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2599-2601)GCC>ACC		zinc finger CCCH-type containing 12C							26.0	26.0	26.0					11																	110036409		1932	4132	6064	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110036409G>A		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.2599G>A	11.37:g.110036409G>A	ENSP00000278590:p.Ala867Thr					ZC3H12C_uc010rwc.1_Missense_Mutation_p.A868T|ZC3H12C_uc010rwd.1_Missense_Mutation_p.A868T|ZC3H12C_uc001pkr.3_Missense_Mutation_p.A836T	p.A867T	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	6	2650	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	867					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.2599G>A	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192737	0.38707	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.39592	1.07;1.07;1.09	6.03	4.12	0.48240	.	0.253386	0.39909	N	0.001222	T	0.57286	0.2043	M	0.63843	1.955	0.39800	D	0.972556	D;P;P	0.76494	0.999;0.567;0.567	P;B;B	0.57679	0.825;0.157;0.157	T	0.63395	-0.6647	10	0.56958	D	0.05	-9.3673	16.9217	0.86166	0.0:0.2409:0.7591:0.0	.	868;867;867	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	T	867;868;836	ENSP00000278590:A867T;ENSP00000431821:A868T;ENSP00000413094:A836T	ENSP00000278590:A867T	A	+	1	0	ZC3H12C	109541619	0.996000	0.38824	0.827000	0.32855	0.704000	0.40688	2.348000	0.44045	0.827000	0.34685	0.655000	0.94253	GCC		PASS	0.428	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		3	8	3	8	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117389387	117389387	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr11:117389387G>T	ENST00000321322.6	-	7	1485	c.1484C>A	c.(1483-1485)cCg>cAg	p.P495Q	DSCAML1_ENST00000527706.1_Missense_Mutation_p.P225Q	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	435	Ig-like C2-type 5.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.P495Q(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CGTGGGGGGCGGGGCGCCCTT	0.672																																						uc001prh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1483-1485)CCG>CAG		Down syndrome cell adhesion molecule like 1							46.0	45.0	46.0					11																	117389387		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117389387G>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1484C>A	11.37:g.117389387G>T	ENSP00000315465:p.Pro495Gln					DSCAML1_uc001pri.1_Missense_Mutation_p.P299Q	p.P495Q	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	7	1486	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	435			Extracellular (Potential).|Ig-like C2-type 5.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.1484C>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486808	0.84854	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.74106	-0.81;-0.81	4.3	4.3	0.51218	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91047	0.7183	H	0.97587	4.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94247	0.7490	9	0.62326	D	0.03	.	16.9379	0.86208	0.0:0.0:1.0:0.0	.	225;435	G3V1B5;Q8TD84	.;DSCL1_HUMAN	Q	225;495;202	ENSP00000434335:P225Q;ENSP00000315465:P495Q	ENSP00000315465:P495Q	P	-	2	0	DSCAML1	116894597	1.000000	0.71417	0.998000	0.56505	0.889000	0.51656	9.657000	0.98554	2.203000	0.70933	0.555000	0.69702	CCG		PASS	0.672	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		3	43	3	43	---	---	---	---
AKAP3	10566	broad.mit.edu	37	12	4737325	4737325	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr12:4737325G>A	ENST00000545990.2	-	5	1267	c.743C>T	c.(742-744)tCt>tTt	p.S248F	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.S248F	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	248					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.S248F(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCCATTACGAGATTCAAACAC	0.458																																						uc001qnb.3																			2	Substitution - Missense(2)		lung(2)	skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						c.(742-744)TCT>TTT		A-kinase anchor protein 3							102.0	101.0	101.0					12																	4737325		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4737325G>A	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.743C>T	12.37:g.4737325G>A	ENSP00000440994:p.Ser248Phe						p.S248F	NM_006422	NP_006413	O75969	AKAP3_HUMAN			4	972	-			248					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.743C>T	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905443	0.33628	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.08720	3.06;3.06	4.88	3.96	0.45880	A-kinase anchor 110kDa, C-terminal (1);	0.523217	0.18016	N	0.154418	T	0.21718	0.0523	M	0.70595	2.14	0.33065	D	0.534605	P	0.48998	0.918	P	0.54965	0.765	T	0.28138	-1.0053	10	0.87932	D	0	-10.4101	12.5624	0.56288	0.0:0.168:0.832:0.0	.	248	O75969	AKAP3_HUMAN	F	248	ENSP00000228850:S248F;ENSP00000440994:S248F	ENSP00000228850:S248F	S	-	2	0	AKAP3	4607586	1.000000	0.71417	0.982000	0.44146	0.174000	0.22865	2.775000	0.47702	1.362000	0.46000	0.655000	0.94253	TCT		PASS	0.458	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		73	47	73	47	---	---	---	---
YBX3	8531	broad.mit.edu	37	12	10868337	10868337	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr12:10868337C>T	ENST00000228251.4	-	4	606	c.406G>A	c.(406-408)Gga>Aga	p.G136R	YBX3_ENST00000279550.7_Missense_Mutation_p.G136R	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	136	CSD.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.G136R(1)									TCTCCATCTCCTACACTGCGC	0.408																																						uc001qyt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|large_intestine(1)	4						c.(406-408)GGA>AGA		cold shock domain protein A isoform a							220.0	191.0	201.0					12																	10868337		2203	4300	6503	SO:0001583	missense	8531				negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:10868337C>T	L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"""cold-shock domain containing A1"""	603437	"""cold shock domain protein A"""	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.406G>A	12.37:g.10868337C>T	ENSP00000228251:p.Gly136Arg					CSDA_uc001qyu.2_Missense_Mutation_p.G136R	p.G136R	NM_003651	NP_003642	P16989	DBPA_HUMAN			4	649	-	Glioma(1;0.155)		136			CSD.		B2RBW6|Q14121|Q969N6|Q96B76	Missense_Mutation	SNP	ENST00000228251.4	37	c.406G>A	CCDS8630.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097711	0.94197	.	.	ENSG00000060138	ENST00000279550;ENST00000228251	T;T	0.27557	1.69;1.66	5.5	5.5	0.81552	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.64402	D	0.000003	T	0.38453	0.1041	N	0.11023	0.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.48490	-0.9031	10	0.87932	D	0	.	16.8731	0.86044	0.0:1.0:0.0:0.0	.	136;136	P16989-2;P16989	.;DBPA_HUMAN	R	136	ENSP00000279550:G136R;ENSP00000228251:G136R	ENSP00000228251:G136R	G	-	1	0	CSDA	10759604	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.916000	0.75776	2.573000	0.86826	0.650000	0.86243	GGA		PASS	0.408	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651		81	61	81	61	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49444814	49444814	+	Silent	SNP	A	A	G			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr12:49444814A>G	ENST00000301067.7	-	10	2651	c.2652T>C	c.(2650-2652)ccT>ccC	p.P884P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	884	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P884P(1)									CCCCAGGGGGAGGGAACAAGG	0.642																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		1	Substitution - coding silent(1)		lung(1)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(2650-2652)CCT>CCC		myeloid/lymphoid or mixed-lineage leukemia 2							50.0	56.0	54.0					12																	49444814		2012	4171	6183	SO:0001819	synonymous_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49444814A>G	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2652T>C	12.37:g.49444814A>G		HNSCC(34;0.089)					p.P884P	NM_003482	NP_003473	O14686	MLL2_HUMAN			10	2652	-			884	Missing (in Ref. 1; AAC51734).		Pro-rich.		O14687	Silent	SNP	ENST00000301067.7	37	c.2652T>C	CCDS44873.1																																																																																				PASS	0.642	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			3	119	3	119	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112685957	112685957	+	Nonsense_Mutation	SNP	G	G	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr12:112685957G>A	ENST00000430131.2	-	26	4041	c.2896C>T	c.(2896-2898)Caa>Taa	p.Q966*	HECTD4_ENST00000550722.1_Nonsense_Mutation_p.Q1242*|HECTD4_ENST00000377560.5_Nonsense_Mutation_p.Q1216*			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	966					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Q966*(1)|p.Q1216*(1)									TGCCATTTTTGTTCCAGTTCT	0.299																																						uc009zwc.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|lung(1)	2						c.(2896-2898)CAA>TAA		chromosome 12 open reading frame 51							88.0	79.0	82.0					12																	112685957		1855	4097	5952	SO:0001587	stop_gained	283450							g.chr12:112685957G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.2896C>T	12.37:g.112685957G>A	ENSP00000404379:p.Gln966*						p.Q966*	NM_001109662	NP_001103132					20	2914	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Nonsense_Mutation	SNP	ENST00000430131.2	37	c.2896C>T		.	.	.	.	.	.	.	.	.	.	G	50	16.691096	0.99869	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0341	0.97551	0.0:0.0:1.0:0.0	.	.	.	.	X	1216;966;1242	.	ENSP00000366783:Q1216X	Q	-	1	0	C12orf51	111170340	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.154000	0.94694	2.753000	0.94483	0.555000	0.69702	CAA		PASS	0.299	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		24	10	24	10	---	---	---	---
MCF2L	23263	broad.mit.edu	37	13	113740555	113740555	+	Missense_Mutation	SNP	G	G	T	rs556331202		TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr13:113740555G>T	ENST00000375608.3	+	22	2513	c.2455G>T	c.(2455-2457)Ggc>Tgc	p.G819C	MCF2L_ENST00000442652.2_Missense_Mutation_p.G819C|MCF2L_ENST00000375597.4_Missense_Mutation_p.G787C|MCF2L_ENST00000375604.2_Missense_Mutation_p.G846C|MCF2L_ENST00000421756.1_Missense_Mutation_p.G793C|MCF2L_ENST00000423482.2_Missense_Mutation_p.G787C|MCF2L_ENST00000434480.2_Missense_Mutation_p.G795C|MCF2L_ENST00000375601.3_Missense_Mutation_p.G793C|MCF2L_ENST00000535094.2_Missense_Mutation_p.G789C|MCF2L_ENST00000397030.1_Missense_Mutation_p.G822C			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	819					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G846C(1)|p.G793C(1)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CGCTATCACCGGCTATGACGT	0.652																																						uc001vsu.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)	2						c.(2536-2538)GGC>TGC		MCF.2 cell line derived transforming							84.0	70.0	74.0					13																	113740555		2203	4300	6503	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113740555G>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2455G>T	13.37:g.113740555G>T	ENSP00000364758:p.Gly819Cys					MCF2L_uc001vsq.2_Missense_Mutation_p.G846C|MCF2L_uc010tjr.1_Missense_Mutation_p.G789C|MCF2L_uc001vsr.2_Missense_Mutation_p.G793C|MCF2L_uc001vss.3_Missense_Mutation_p.G787C|MCF2L_uc010tjs.1_Missense_Mutation_p.G787C|MCF2L_uc001vst.1_Missense_Mutation_p.G751C	p.G846C	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN			21	2558	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	819					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.2536G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.50|18.50	3.637176|3.637176	0.67130|0.67130	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749|ENST00000397017	T;T;T;T;T;T;T;T;T;T|.	0.25749|.	1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78|.	4.67|4.67	4.67|4.67	0.58626|0.58626	Pleckstrin homology-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86957|0.86957	0.6058|0.6058	H|H	0.94264|0.94264	3.515|3.515	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;0.999;1.0|.	D;D;D;D;D;D|.	0.87578|.	0.989;0.989;0.998;0.989;0.98;0.989|.	D|D	0.91213|0.91213	0.5000|0.5000	10|5	0.87932|.	D|.	0|.	.|.	17.635|17.635	0.88119|0.88119	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	787;789;846;751;787;819|.	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068|.	.;.;.;.;.;MCF2L_HUMAN|.	C|L	819;819;846;822;789;793;793;795;787;787;630|449	ENSP00000364758:G819C;ENSP00000401422:G819C;ENSP00000364754:G846C;ENSP00000380225:G822C;ENSP00000440374:G789C;ENSP00000397285:G793C;ENSP00000364751:G793C;ENSP00000407722:G795C;ENSP00000405639:G787C;ENSP00000364747:G787C|.	ENSP00000364747:G787C|.	G|R	+|+	1|2	0|0	MCF2L|MCF2L	112788556|112788556	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.176000|0.176000	0.22953|0.22953	9.574000|9.574000	0.98184|0.98184	2.157000|2.157000	0.67596|0.67596	0.196000|0.196000	0.17591|0.17591	GGC|CGG		PASS	0.652	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			21	42	21	42	---	---	---	---
OR4K14	122740	broad.mit.edu	37	14	20483135	20483135	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr14:20483135C>A	ENST00000305045.2	-	1	217	c.218G>T	c.(217-219)tGg>tTg	p.W73L		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W73L(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGAGGCCAGCCACATGTCCAG	0.478																																						uc010tky.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(217-219)TGG>TTG		olfactory receptor, family 4, subfamily K,							87.0	76.0	80.0					14																	20483135		2203	4300	6503	SO:0001583	missense	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20483135C>A		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.218G>T	14.37:g.20483135C>A	ENSP00000305011:p.Trp73Leu						p.W73L	NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	218	-	all_cancers(95;0.00108)		73			Helical; Name=2; (Potential).		Q6IEU1|Q96R71	Missense_Mutation	SNP	ENST00000305045.2	37	c.218G>T	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	1.765	-0.485868	0.04352	.	.	ENSG00000169484	ENST00000305045	T	0.00522	6.84	4.33	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.168163	0.28859	N	0.013902	T	0.00300	0.0009	N	0.05574	-0.02	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46803	-0.9165	10	0.56958	D	0.05	.	7.9531	0.30027	0.3237:0.5192:0.1571:0.0	.	73	Q8NGD5	OR4KE_HUMAN	L	73	ENSP00000305011:W73L	ENSP00000305011:W73L	W	-	2	0	OR4K14	19552975	0.000000	0.05858	0.013000	0.15412	0.002000	0.02628	-0.483000	0.06536	0.427000	0.26145	-0.251000	0.11542	TGG		PASS	0.478	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			48	34	48	34	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94053012	94053012	+	Silent	SNP	C	C	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr14:94053012C>T	ENST00000393151.2	+	21	2874	c.2874C>T	c.(2872-2874)acC>acT	p.T958T	UNC79_ENST00000256339.4_Silent_p.T781T|UNC79_ENST00000555664.1_Silent_p.T958T|UNC79_ENST00000553484.1_Silent_p.T958T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	958					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T958T(1)|p.T781T(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TAATATATACCATTTTCCAGG	0.328																																						uc001ybv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(2341-2343)ACC>ACT		hypothetical protein LOC57578							63.0	62.0	62.0					14																	94053012		2202	4300	6502	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94053012C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2874C>T	14.37:g.94053012C>T						KIAA1409_uc001ybs.1_Silent_p.T781T	p.T781T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	18	2426	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	958					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.2343C>T																																																																																					PASS	0.328	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		52	8	52	8	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369023	22369023	+	Missense_Mutation	SNP	A	A	T	rs571384652	byFrequency	TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr15:22369023A>T	ENST00000332663.2	+	1	546	c.448A>T	c.(448-450)Agg>Tgg	p.R150W	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTT	0.498																																						uc010tzu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(448-450)AGG>TGG		olfactory receptor, family 4, subfamily M,							305.0	263.0	277.0					15																	22369023		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369023A>T	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.448A>T	15.37:g.22369023A>T	ENSP00000329467:p.Arg150Trp					LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.R150W	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	448	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	150			Helical; Name=4; (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.448A>T	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	5.534	0.283516	0.10458	.	.	ENSG00000182974	ENST00000332663	T	0.37058	1.22	2.5	-2.25	0.06888	GPCR, rhodopsin-like superfamily (1);	1.194180	0.05949	N	0.638345	T	0.19167	0.0460	N	0.14661	0.345	0.09310	N	1	B	0.21821	0.061	B	0.18561	0.022	T	0.30650	-0.9971	10	0.87932	D	0	0.3727	2.9952	0.05996	0.5029:0.0:0.1305:0.3666	.	150	Q8NGB6	OR4M2_HUMAN	W	150	ENSP00000329467:R150W	ENSP00000329467:R150W	R	+	1	2	OR4M2	19870387	0.000000	0.05858	0.934000	0.37439	0.240000	0.25518	-0.929000	0.03976	-0.158000	0.11040	-0.487000	0.04747	AGG		PASS	0.498	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			47	472	47	472	---	---	---	---
OR4N4	283694	broad.mit.edu	37	15	22382725	22382725	+	Missense_Mutation	SNP	T	T	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr15:22382725T>A	ENST00000328795.4	+	1	344	c.253T>A	c.(253-255)Ttc>Atc	p.F85I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F85I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTTGGTGGACTTCCTCTCTGA	0.507																																						uc001yuc.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(253-255)TTC>ATC		olfactory receptor, family 4, subfamily N,							95.0	91.0	93.0					15																	22382725		2203	4299	6502	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382725T>A	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.253T>A	15.37:g.22382725T>A	ENSP00000332500:p.Phe85Ile					LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.F85I	p.F85I	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1234	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	85			Extracellular (Potential).		Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.253T>A	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	5.771	0.326563	0.10900	.	.	ENSG00000183706	ENST00000328795	T	0.00940	5.52	3.2	1.98	0.26296	GPCR, rhodopsin-like superfamily (1);	0.128182	0.35615	N	0.003094	T	0.00967	0.0032	L	0.33093	0.98	0.23776	N	0.996875	B	0.23854	0.092	B	0.27262	0.078	T	0.47071	-0.9145	10	0.54805	T	0.06	-6.875	6.6426	0.22917	0.2229:0.0:0.0:0.7771	.	85	Q8N0Y3	OR4N4_HUMAN	I	85	ENSP00000332500:F85I	ENSP00000332500:F85I	F	+	1	0	OR4N4	19884089	0.010000	0.17322	1.000000	0.80357	0.094000	0.18550	0.128000	0.15810	0.382000	0.24878	0.155000	0.16302	TTC		PASS	0.507	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			36	339	36	339	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28380782	28380782	+	Silent	SNP	C	C	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr15:28380782C>T	ENST00000261609.7	-	79	12180	c.12072G>A	c.(12070-12072)tcG>tcA	p.S4024S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.S4024S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGGTGGACACCGACTCTGTCC	0.448																																						uc001zbj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(12070-12072)TCG>TCA		hect domain and RLD 2							84.0	77.0	80.0					15																	28380782		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28380782C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12072G>A	15.37:g.28380782C>T							p.S4024S	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	79	12178	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4024			RCC1 14.			Silent	SNP	ENST00000261609.7	37	c.12072G>A	CCDS10021.1																																																																																				PASS	0.448	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		35	54	35	54	---	---	---	---
CASC5	57082	broad.mit.edu	37	15	40917450	40917450	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr15:40917450G>A	ENST00000346991.5	+	11	5456	c.5066G>A	c.(5065-5067)tGt>tAt	p.C1689Y	CASC5_ENST00000399668.2_Missense_Mutation_p.C1663Y			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1689					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.C1689Y(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAGAGAAATTGTAGTGTCACT	0.408																																						uc010bbs.1																			2	Substitution - Missense(2)		lung(2)	breast(3)|central_nervous_system(1)|skin(1)	5						c.(5065-5067)TGT>TAT		cancer susceptibility candidate 5 isoform 1							123.0	119.0	121.0					15																	40917450		1840	4088	5928	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40917450G>A	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.5066G>A	15.37:g.40917450G>A	ENSP00000335463:p.Cys1689Tyr					CASC5_uc010ucq.1_Missense_Mutation_p.C1513Y|CASC5_uc001zme.2_Missense_Mutation_p.C1663Y|CASC5_uc010bbt.1_Missense_Mutation_p.C1663Y	p.C1689Y	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	5227	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	1689					Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.5066G>A	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952568	0.53293	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.21191	2.02;2.02	5.47	4.53	0.55603	.	0.000000	0.53938	D	0.000044	T	0.39091	0.1065	M	0.66939	2.045	0.26567	N	0.973637	D;D;D	0.64830	0.986;0.965;0.994	P;P;P	0.62740	0.858;0.804;0.906	T	0.22347	-1.0219	10	0.66056	D	0.02	.	9.7988	0.40751	0.0:0.2808:0.5904:0.1288	.	1663;1689;1663	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	Y	1689;1663;1663	ENSP00000335463:C1689Y;ENSP00000382576:C1663Y	ENSP00000260369:C1663Y	C	+	2	0	CASC5	38704742	0.999000	0.42202	1.000000	0.80357	0.916000	0.54674	1.059000	0.30517	1.279000	0.44446	0.454000	0.30748	TGT		PASS	0.408	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		74	75	74	75	---	---	---	---
MAP1A	4130	broad.mit.edu	37	15	43818760	43818760	+	Missense_Mutation	SNP	T	T	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr15:43818760T>A	ENST00000300231.5	+	4	5539	c.5089T>A	c.(5089-5091)Tgg>Agg	p.W1697R	MAP1A_ENST00000399453.1_Missense_Mutation_p.W1697R|MAP1A_ENST00000382031.1_Missense_Mutation_p.W1935R			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1697					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.W1697R(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGACACATACTGGAGGGAGCT	0.582																																						uc001zrt.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(5089-5091)TGG>AGG		microtubule-associated protein 1A	Estramustine(DB01196)						55.0	64.0	61.0					15																	43818760		2043	4174	6217	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43818760T>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5089T>A	15.37:g.43818760T>A	ENSP00000300231:p.Trp1697Arg						p.W1697R	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	5556	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1697					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.5089T>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.729182	0.30684	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01767	4.65;4.65;4.65	4.42	4.42	0.53409	.	.	.	.	.	T	0.03011	0.0089	L	0.36672	1.1	0.26226	N	0.979085	D	0.57899	0.981	P	0.54026	0.74	T	0.48801	-0.9003	9	0.39692	T	0.17	-0.353	3.7869	0.08704	0.1887:0.0993:0.0:0.712	.	1697	P78559	MAP1A_HUMAN	R	1935;1697;1697	ENSP00000371462:W1935R;ENSP00000382380:W1697R;ENSP00000300231:W1697R	ENSP00000300231:W1697R	W	+	1	0	MAP1A	41606052	0.997000	0.39634	0.995000	0.50966	0.988000	0.76386	0.797000	0.26999	1.860000	0.53959	0.460000	0.39030	TGG		PASS	0.582	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		30	34	30	34	---	---	---	---
NOX5	79400	broad.mit.edu	37	15	69327710	69327710	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr15:69327710G>T	ENST00000388866.3	+	6	913	c.872G>T	c.(871-873)cGc>cTc	p.R291L	NOX5_ENST00000260364.5_Missense_Mutation_p.R273L|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000455873.3_Missense_Mutation_p.R256L|NOX5_ENST00000530406.2_Missense_Mutation_p.R263L|NOX5_ENST00000448182.3_Missense_Mutation_p.R245L	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	291					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.R273L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						ATGCTCAGACGCTGCCTCACC	0.617																																						uc002ars.1																			1	Substitution - Missense(1)		lung(1)	breast(1)|pancreas(1)	2						c.(871-873)CGC>CTC		NADPH oxidase, EF-hand calcium binding domain 5							51.0	38.0	43.0					15																	69327710		2200	4298	6498	SO:0001583	missense	79400				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69327710G>T	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.872G>T	15.37:g.69327710G>T	ENSP00000373518:p.Arg291Leu					NOX5_uc002arp.1_Missense_Mutation_p.R273L|NOX5_uc002arq.1_Missense_Mutation_p.R245L|NOX5_uc010bid.1_Missense_Mutation_p.R256L|NOX5_uc002arr.1_Missense_Mutation_p.R263L|NOX5_uc010bie.1_Missense_Mutation_p.R91L|NOX5_uc010bif.1_RNA	p.R291L	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			6	892	+			291			Cytoplasmic (Potential).		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.872G>T	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279824	0.40294	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D	0.93811	-2.74;-3.29;-2.74	3.57	2.65	0.31530	Flavoprotein transmembrane component (1);	0.000000	0.85682	U	0.000000	D	0.95050	0.8397	M	0.81239	2.535	0.58432	D	0.999996	D;D;D	0.58970	0.968;0.984;0.968	P;P;P	0.58013	0.573;0.831;0.741	D	0.93817	0.7115	10	0.66056	D	0.02	-15.7664	9.5349	0.39216	0.1082:0.0:0.8918:0.0	.	256;291;263	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	L	256;273;291;263	ENSP00000416828:R256L;ENSP00000373518:R291L;ENSP00000432440:R263L	ENSP00000373518:R291L	R	+	2	0	NOX5	67114764	1.000000	0.71417	0.986000	0.45419	0.038000	0.13279	5.707000	0.68370	0.485000	0.27652	-0.258000	0.10820	CGC		PASS	0.617	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		10	17	10	17	---	---	---	---
ARPIN	348110	broad.mit.edu	37	15	90447114	90447114	+	Missense_Mutation	SNP	C	C	A	rs61731919		TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr15:90447114C>A	ENST00000357484.5	-	4	523	c.403G>T	c.(403-405)Gac>Tac	p.D135Y	C15orf38_ENST00000460685.1_Missense_Mutation_p.D39Y|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.D135Y|C15orf38-AP3S2_ENST00000560224.1_5'Flank	NM_001282380.1|NM_182616.2	NP_001269309.1|NP_872422.1	Q7Z6K5	ARPIN_HUMAN		135					directional locomotion (GO:0033058)|negative regulation of actin nucleation (GO:0051126)|negative regulation of cell migration (GO:0030336)|negative regulation of lamellipodium morphogenesis (GO:2000393)	lamellipodium (GO:0030027)		p.D135Y(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			ACTGTGTGGTCGGGGGTGAGG	0.652																																						uc002bos.3																			1	Substitution - Missense(1)		lung(1)		0						c.(403-405)GAC>TAC		hypothetical protein LOC348110							60.0	68.0	65.0					15																	90447114		2126	4241	6367	SO:0001583	missense	10239				intracellular protein transport|vesicle-mediated transport	cytoplasmic vesicle membrane|Golgi apparatus|membrane coat	protein transporter activity	g.chr15:90447114C>A																												ENST00000357484.5:c.403G>T	15.37:g.90447114C>A	ENSP00000350075:p.Asp135Tyr					C15orf38_uc002bot.1_RNA|C15orf38_uc002bou.2_Missense_Mutation_p.D135Y	p.D135Y	NM_182616	NP_872422	P59780	AP3S2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)		4	558	-	Lung NSC(78;0.0181)|all_lung(78;0.0384)		Error:Variant_position_missing_in_P59780_after_alignment					E2QRD5	Missense_Mutation	SNP	ENST00000357484.5	37	c.403G>T	CCDS42080.1	.	.	.	.	.	.	.	.	.	.	C	9.578	1.122782	0.20959	.	.	ENSG00000250021;ENSG00000242498	ENST00000398333;ENST00000357484	T	0.45668	0.89	5.36	3.49	0.39957	.	.	.	.	.	T	0.48589	0.1508	L	0.56769	1.78	0.09310	N	1	P;P	0.50617	0.937;0.82	P;B	0.52598	0.703;0.433	T	0.35301	-0.9794	9	0.66056	D	0.02	-23.0515	7.6417	0.28298	0.0:0.7402:0.0:0.2598	.	135;135	Q7Z6K5;E2QRD5	CO038_HUMAN;.	Y	135	ENSP00000381377:D135Y	ENSP00000381377:D135Y	D	-	1	0	C15orf38-AP3S2;C15orf38	88248118	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	0.562000	0.23531	0.662000	0.31006	-1.241000	0.01538	GAC		PASS	0.652	C15orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335629.1			3	68	3	68	---	---	---	---
HS3ST2	9956	broad.mit.edu	37	16	22926572	22926572	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr16:22926572C>T	ENST00000261374.3	+	2	1227	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	265					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)	p.P265S(1)		breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GCAGTACTTCCCGCTAGCTCA	0.607																																						uc002dli.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(793-795)CCG>TCG		heparan sulfate D-glucosaminyl							109.0	100.0	103.0					16																	22926572		2197	4300	6497	SO:0001583	missense	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22926572C>T	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.793C>T	16.37:g.22926572C>T	ENSP00000261374:p.Pro265Ser					HS3ST2_uc002dlj.2_RNA	p.P265S	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	2	865	+			265			Lumenal (Potential).		Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	37	c.793C>T	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921962	0.92319	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	T	0.48836	0.8	5.21	5.21	0.72293	Sulfotransferase domain (1);	0.111853	0.64402	D	0.000007	T	0.74038	0.3664	M	0.88105	2.93	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	T	0.79610	-0.1732	10	0.66056	D	0.02	.	17.7799	0.88520	0.0:1.0:0.0:0.0	.	265	Q9Y278	HS3S2_HUMAN	S	265;273	ENSP00000261374:P265S	ENSP00000261374:P265S	P	+	1	0	HS3ST2	22834073	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.818000	0.86416	2.433000	0.82419	0.561000	0.74099	CCG		PASS	0.607	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		45	66	45	66	---	---	---	---
SULT1A2	6799	broad.mit.edu	37	16	28604868	28604868	+	Missense_Mutation	SNP	C	C	T	rs374846262		TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr16:28604868C>T	ENST00000395630.1	-	5	744	c.394G>A	c.(394-396)Gca>Aca	p.A132T	SULT1A2_ENST00000335715.4_Missense_Mutation_p.A132T|SULT1A2_ENST00000533150.1_Intron	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	132					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)	p.A132T(1)		NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						ACATCCTTTGCGTTGCGGGCA	0.567																																						uc002dqg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(394-396)GCA>ACA		sulfotransferase family, cytosolic, 1A,		C	THR/ALA,THR/ALA	0,4394		0,0,2197	122.0	114.0	117.0		394,394	2.6	0.3	16		117	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SULT1A2	NM_001054.3,NM_177528.2	58,58	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	132/296,132/296	28604868	1,12993	2197	4300	6497	SO:0001583	missense	6799				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28604868C>T	U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"""Sulfotransferases, cytosolic"""	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.394G>A	16.37:g.28604868C>T	ENSP00000378992:p.Ala132Thr					uc010vct.1_Intron|SULT1A2_uc002dqh.1_Missense_Mutation_p.A132T	p.A132T	NM_177528	NP_803564	P50226	ST1A2_HUMAN			5	745	-			132			PAPS (By similarity).		A9QY25|P78393|Q14CJ7	Missense_Mutation	SNP	ENST00000395630.1	37	c.394G>A	CCDS10636.1	.	.	.	.	.	.	.	.	.	.	c	14.66	2.601482	0.46423	0.0	1.16E-4	ENSG00000197165	ENST00000335715;ENST00000395630;ENST00000526384	T;T;T	0.01804	4.63;4.63;4.63	4.6	2.58	0.30949	Sulfotransferase domain (1);	0.156175	0.43747	N	0.000540	T	0.06600	0.0169	M	0.92367	3.3	0.35347	D	0.787018	P	0.51057	0.941	P	0.47981	0.563	T	0.09143	-1.0688	10	0.87932	D	0	.	7.7859	0.29091	0.0:0.7414:0.1648:0.0937	.	132	P50226	ST1A2_HUMAN	T	132	ENSP00000338742:A132T;ENSP00000378992:A132T;ENSP00000435358:A132T	ENSP00000338742:A132T	A	-	1	0	SULT1A2	28512369	0.240000	0.23847	0.314000	0.25224	0.057000	0.15508	0.886000	0.28241	0.351000	0.24027	0.556000	0.70494	GCA		PASS	0.567	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2	NM_001054		4	72	4	72	---	---	---	---
SPNS1	83985	broad.mit.edu	37	16	28990770	28990770	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr16:28990770G>A	ENST00000311008.11	+	5	1018	c.641G>A	c.(640-642)gGa>gAa	p.G214E	RP11-264B17.4_ENST00000567209.1_RNA|SPNS1_ENST00000323081.8_Missense_Mutation_p.G141E|SPNS1_ENST00000561868.1_3'UTR|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000352260.7_Missense_Mutation_p.G192E|SPNS1_ENST00000334536.8_Missense_Mutation_p.G214E|SPNS1_ENST00000565975.1_Missense_Mutation_p.G259E	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	214					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)		p.G214E(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GATATGGCTGGAGACTGGCAC	0.592																																						uc010vdi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(640-642)GGA>GAA		spinster homolog 1 isoform 1							87.0	80.0	82.0					16																	28990770		2197	4300	6497	SO:0001583	missense	83985				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr16:28990770G>A	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.641G>A	16.37:g.28990770G>A	ENSP00000309945:p.Gly214Glu					uc010vct.1_Intron|SPNS1_uc002dry.2_Missense_Mutation_p.G214E|SPNS1_uc002drx.2_Missense_Mutation_p.G141E|SPNS1_uc002dsa.2_Missense_Mutation_p.G214E|SPNS1_uc002drz.2_Missense_Mutation_p.G214E|SPNS1_uc010byp.2_Missense_Mutation_p.G192E|SPNS1_uc010byq.1_Missense_Mutation_p.G141E	p.G214E	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN			6	781	+			214					B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	ENST00000311008.11	37	c.641G>A	CCDS10646.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609866	0.66558	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	4.49	3.5	0.40072	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.287731	0.33496	N	0.004853	T	0.82190	0.4983	M	0.83774	2.66	0.40556	D	0.981162	P;P;P;D;P	0.67145	0.725;0.883;0.815;0.996;0.931	B;P;P;D;P	0.68039	0.426;0.62;0.692;0.955;0.615	D	0.84835	0.0804	10	0.87932	D	0	.	10.7009	0.45926	0.0974:0.0:0.9026:0.0	.	141;192;214;214;214	Q9H2V7-4;Q9H2V7-3;Q9H2V7;Q9H2V7-2;Q9H2V7-5	.;.;SPNS1_HUMAN;.;.	E	214;214;192;141	ENSP00000309945:G214E;ENSP00000335494:G214E;ENSP00000306050:G192E;ENSP00000318228:G141E	ENSP00000309945:G214E	G	+	2	0	SPNS1	28898271	0.979000	0.34478	0.999000	0.59377	0.853000	0.48598	2.737000	0.47393	2.339000	0.79563	0.561000	0.74099	GGA		PASS	0.592	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038		21	28	21	28	---	---	---	---
GPT2	84706	broad.mit.edu	37	16	46952534	46952534	+	Splice_Site	SNP	T	T	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr16:46952534T>A	ENST00000340124.4	+	8	1014	c.902T>A	c.(901-903)gTg>gAg	p.V301E	GPT2_ENST00000440783.2_Splice_Site_p.V201E	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	301					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)	p.V301E(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	CCCCCGCAGGTGTACCAGGAC	0.612																																						uc002eel.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(901-903)GTG>GAG		glutamic pyruvate transaminase 2 isoform 1	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						138.0	123.0	128.0					16																	46952534		2203	4300	6503	SO:0001630	splice_region_variant	84706				2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:46952534T>A		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.901-1T>A	16.37:g.46952534T>A						GPT2_uc002eem.2_Missense_Mutation_p.V201E	p.V301E	NM_133443	NP_597700	Q8TD30	ALAT2_HUMAN			8	996	+		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)	301					Q8N9E2	Missense_Mutation	SNP	ENST00000340124.4	37	c.902T>A	CCDS10725.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.500163	0.64298	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	D;D	0.91521	-2.86;-2.86	4.43	3.32	0.38043	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.062593	0.64402	N	0.000006	D	0.96414	0.8830	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96293	0.9215	10	0.87932	D	0	.	11.3602	0.49638	0.0:0.0:0.1524:0.8476	.	301	Q8TD30	ALAT2_HUMAN	E	301;201	ENSP00000345282:V301E;ENSP00000413804:V201E	ENSP00000345282:V301E	V	+	2	0	GPT2	45510035	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	7.754000	0.85163	0.818000	0.34468	-0.313000	0.08912	GTG		PASS	0.612	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2		Missense_Mutation	75	62	75	62	---	---	---	---
PITPNM3	83394	broad.mit.edu	37	17	6428755	6428755	+	Silent	SNP	G	G	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr17:6428755G>A	ENST00000262483.8	-	3	234	c.147C>T	c.(145-147)atC>atT	p.I49I	PITPNM3_ENST00000421306.3_Intron	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	49					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)	p.I49I(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TCCCAATGAGGATGGCATTCT	0.537																																						uc002gdd.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(145-147)ATC>ATT		PITPNM family member 3 isoform 1							217.0	155.0	176.0					17																	6428755		2203	4300	6503	SO:0001819	synonymous_variant	83394				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding	g.chr17:6428755G>A	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.147C>T	17.37:g.6428755G>A						PITPNM3_uc010cln.2_Intron	p.I49I	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN		Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)	3	298	-			49					A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	c.147C>T	CCDS11076.1																																																																																				PASS	0.537	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		203	16	203	16	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578370	7578370	+	Splice_Site	SNP	C	C	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr17:7578370C>A	ENST00000269305.4	-	5	749		c.e5+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCTGCTCACCATCGCTATC	0.632		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		68	Unknown(54)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	p.?(24)|p.0?(7)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)	lung(12)|breast(9)|oesophagus(7)|ovary(7)|liver(7)|urinary_tract(5)|NS(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(2)|stomach(1)|soft_tissue(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.e5+1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							48.0	46.0	47.0					17																	7578370		2203	4300	6503	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578370C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.559+1G>T	17.37:g.7578370C>A		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Splice_Site_p.G187_splice|TP53_uc002gih.2_Splice_Site_p.G187_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Intron|TP53_uc010cng.1_Intron|TP53_uc002gii.1_Intron|TP53_uc010cnh.1_Splice_Site_p.G187_splice|TP53_uc010cni.1_Splice_Site_p.G187_splice|TP53_uc002gij.2_Splice_Site_p.G187_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.G94_splice|TP53_uc002gio.2_Splice_Site_p.G55_splice|TP53_uc010vug.1_Splice_Site_p.G148_splice	p.G187_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	753	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	c.559_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713974	0.30413	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0738	0.59075	0.0:0.8363:0.1637:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519095	1.000000	0.71417	0.967000	0.41034	0.201000	0.24016	3.085000	0.50151	1.248000	0.43934	0.655000	0.94253	.		PASS	0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	85	9	85	9	---	---	---	---
MFSD6L	162387	broad.mit.edu	37	17	8701182	8701182	+	Silent	SNP	C	C	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr17:8701182C>A	ENST00000329805.4	-	1	1485	c.1257G>T	c.(1255-1257)ccG>ccT	p.P419P		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	419						integral component of membrane (GO:0016021)		p.P419P(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						TAGCTTTGAACGGATGAAGCA	0.572																																						uc002glp.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1255-1257)CCG>CCT		major facilitator superfamily domain containing							105.0	121.0	115.0					17																	8701182		2203	4300	6503	SO:0001819	synonymous_variant	162387					integral to membrane		g.chr17:8701182C>A	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.1257G>T	17.37:g.8701182C>A							p.P419P	NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN			1	1405	-			419			Helical; (Potential).		Q6YL34|Q8NA76	Silent	SNP	ENST00000329805.4	37	c.1257G>T	CCDS11146.1																																																																																				PASS	0.572	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		137	156	137	156	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11701032	11701032	+	Missense_Mutation	SNP	T	T	C			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr17:11701032T>C	ENST00000262442.4	+	43	8410	c.8342T>C	c.(8341-8343)cTg>cCg	p.L2781P	DNAH9_ENST00000454412.2_Missense_Mutation_p.L2781P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2781					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L2781P(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCCAGACTCTGGTGGAGGCC	0.498																																						uc002gne.2																			2	Substitution - Missense(2)		lung(1)|kidney(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(8341-8343)CTG>CCG		dynein, axonemal, heavy chain 9 isoform 2							179.0	139.0	152.0					17																	11701032		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11701032T>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8342T>C	17.37:g.11701032T>C	ENSP00000262442:p.Leu2781Pro					DNAH9_uc010coo.2_Missense_Mutation_p.L2075P	p.L2781P	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	43	8410	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2781					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.8342T>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.161137	0.57368	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.33654	1.44;1.4	5.68	5.68	0.88126	.	0.178045	0.38720	N	0.001593	T	0.68604	0.3019	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76898	-0.2789	10	0.87932	D	0	.	15.9259	0.79615	0.0:0.0:0.0:1.0	.	2781	Q9NYC9	DYH9_HUMAN	P	2781;2781;1363	ENSP00000262442:L2781P;ENSP00000414874:L2781P	ENSP00000262442:L2781P	L	+	2	0	DNAH9	11641757	1.000000	0.71417	0.999000	0.59377	0.209000	0.24338	7.988000	0.88194	2.158000	0.67659	0.528000	0.53228	CTG		PASS	0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		28	98	28	98	---	---	---	---
KCNJ12	3768	broad.mit.edu	37	17	21319683	21319683	+	Silent	SNP	G	G	A	rs111482429	byFrequency	TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr17:21319683G>A	ENST00000583088.1	+	3	1924	c.1029G>A	c.(1027-1029)tcG>tcA	p.S343S	KCNJ12_ENST00000331718.5_Silent_p.S343S	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	343				S -> L (in Ref. 2; AAC50615). {ECO:0000305}.	muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.S343S(2)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TTGACTACTCGCACTTCCACA	0.582										Prostate(3;0.18)																												uc002gyv.1																			2	Substitution - coding silent(2)	p.S343L(2)	large_intestine(1)|lung(1)	ovary(3)|skin(1)	4						c.(1027-1029)TCG>TCA		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)	G		1,4405	2.1+/-5.4	0,1,2202	154.0	153.0	153.0		1029	-5.5	1.0	17	dbSNP_132	153	0,8600		0,0,4300	no	coding-synonymous	KCNJ12	NM_021012.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		343/434	21319683	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21319683G>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1029G>A	17.37:g.21319683G>A		Prostate(3;0.18)					p.S343S	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1734	+			343	S -> L (in Ref. 2; AAC50615).		Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.1029G>A	CCDS11219.1																																																																																				PASS	0.582	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		53	249	53	249	---	---	---	---
HSD17B1	3292	broad.mit.edu	37	17	40706825	40706825	+	Missense_Mutation	SNP	G	G	C			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr17:40706825G>C	ENST00000585807.1	+	6	4576	c.856G>C	c.(856-858)Ggc>Cgc	p.G286R	RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.G287R	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	286					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.G286R(1)		NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	GGAAGTGTTCGGCGACGTTCC	0.736																																						uc002hzw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(856-858)GGC>CGC		hydroxysteroid (17-beta) dehydrogenase 1	NADH(DB00157)						16.0	18.0	18.0					17																	40706825		2179	4260	6439	SO:0001583	missense	3292				estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity	g.chr17:40706825G>C		CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5210	protein-coding gene	gene with protein product	"""Estradiol 17-beta-dehydrogenase-1"", ""short chain dehydrogenase/reductase family 28CE, member 1"""	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.856G>C	17.37:g.40706825G>C	ENSP00000466799:p.Gly286Arg					HSD17B1_uc002hzx.2_Missense_Mutation_p.G287R|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_5'Flank|HSD17B1_uc010cyi.2_Missense_Mutation_p.G317R	p.G286R	NM_000413	NP_000404	P14061	DHB1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	6	1824	+		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)	286					B3KXS1|Q2M2L8	Missense_Mutation	SNP	ENST00000585807.1	37	c.856G>C	CCDS11428.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937240	0.34189	.	.	ENSG00000108786	ENST00000225929	.	.	.	4.0	-7.93	0.01156	.	0.701904	0.13383	N	0.391984	T	0.06600	0.0169	N	0.03050	-0.425	0.09310	N	1	P;B	0.46621	0.881;0.008	B;B	0.43783	0.431;0.004	T	0.33292	-0.9874	9	0.21014	T	0.42	.	1.0903	0.01662	0.1806:0.2263:0.1576:0.4355	.	317;286	B3RFR9;P14061	.;DHB1_HUMAN	R	286	.	ENSP00000225929:G286R	G	+	1	0	HSD17B1	37960351	0.470000	0.25854	0.001000	0.08648	0.002000	0.02628	-0.370000	0.07523	-0.893000	0.03930	-0.802000	0.03209	GGC		PASS	0.736	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450392.1	NM_000413		6	46	6	46	---	---	---	---
TMUB2	79089	broad.mit.edu	37	17	42271707	42271707	+	IGR	SNP	C	C	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr17:42271707C>A	ENST00000587989.1	+	0	1969				ATXN7L3_ENST00000389384.4_Missense_Mutation_p.G323V|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.G330V|ATXN7L3_ENST00000593073.1_5'UTR			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2							integral component of membrane (GO:0016021)		p.G323V(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGAACCTAGGCCGGAGGCAGT	0.522																																						uc002iga.2																			1	Substitution - Missense(1)		lung(1)		0						c.(967-969)GGC>GTC		ataxin 7-like 3 isoform b							145.0	147.0	146.0					17																	42271707		2019	4195	6214	SO:0001628	intergenic_variant	56970				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding	g.chr17:42271707C>A		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4			17.37:g.42271707C>A						ATXN7L3_uc010wiv.1_Missense_Mutation_p.G105V|ATXN7L3_uc002ifz.2_Missense_Mutation_p.G330V	p.G323V	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	12	1059	-		Breast(137;0.00765)|Prostate(33;0.0181)	323					B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	ENST00000587989.1	37	c.968G>T	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	C	8.917	0.960142	0.18507	.	.	ENSG00000087152	ENST00000454077;ENST00000389384;ENST00000541672	.	.	.	5.29	3.32	0.38043	.	0.577994	0.16761	U	0.200589	T	0.40979	0.1139	L	0.27053	0.805	0.48762	D	0.999709	B;P	0.43701	0.077;0.815	B;B	0.42522	0.018;0.39	T	0.30592	-0.9973	9	0.72032	D	0.01	.	9.0683	0.36478	0.0:0.8291:0.0:0.1709	.	323;330	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	V	330;323;105	.	ENSP00000374035:G323V	G	-	2	0	ATXN7L3	39627233	0.999000	0.42202	0.503000	0.27626	0.012000	0.07955	4.685000	0.61693	0.820000	0.34516	0.655000	0.94253	GGC		PASS	0.522	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		70	62	70	62	---	---	---	---
HLF	3131	broad.mit.edu	37	17	53398125	53398125	+	Missense_Mutation	SNP	C	C	G			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr17:53398125C>G	ENST00000226067.5	+	4	1246	c.773C>G	c.(772-774)tCg>tGg	p.S258W	HLF_ENST00000573945.1_Missense_Mutation_p.S173W|HLF_ENST00000575345.1_Missense_Mutation_p.S173W|HLF_ENST00000430986.2_Missense_Mutation_p.S173W|HLF_ENST00000575307.1_3'UTR	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	258	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S258W(1)		large_intestine(1)|ovary(2)	3						ATCCGGGCCTCGTTCCTGGAG	0.592			T	TCF3	ALL																																	uc002iug.1				Dom	yes		17	17q22	3131	T	hepatic leukemia factor			L	TCF3		ALL		1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(772-774)TCG>TGG		hepatic leukemia factor							28.0	32.0	31.0					17																	53398125		2201	4295	6496	SO:0001583	missense	3131				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:53398125C>G		CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.773C>G	17.37:g.53398125C>G	ENSP00000226067:p.Ser258Trp					HLF_uc010dce.1_Missense_Mutation_p.S173W|HLF_uc002iuh.2_Missense_Mutation_p.S173W|HLF_uc010wni.1_Missense_Mutation_p.S205W	p.S258W	NM_002126	NP_002117	Q16534	HLF_HUMAN			4	1298	+			258			Leucine-zipper.		A8K1X8|Q6FHS9	Missense_Mutation	SNP	ENST00000226067.5	37	c.773C>G	CCDS11585.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.400243	0.42613	.	.	ENSG00000108924	ENST00000226067;ENST00000430986	T;T	0.43294	0.95;0.95	5.77	4.8	0.61643	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.149402	0.47852	D	0.000216	T	0.63307	0.2500	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.976	T	0.67745	-0.5591	10	0.87932	D	0	.	13.9362	0.64026	0.0:0.9273:0.0:0.0727	.	206;258	B4DIQ5;Q16534	.;HLF_HUMAN	W	258;173	ENSP00000226067:S258W;ENSP00000402496:S173W	ENSP00000226067:S258W	S	+	2	0	HLF	50753124	0.730000	0.28100	0.996000	0.52242	0.634000	0.38068	2.417000	0.44653	1.449000	0.47699	-0.140000	0.14226	TCG		PASS	0.592	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126		6	38	6	38	---	---	---	---
ITGB4	3691	broad.mit.edu	37	17	73736517	73736517	+	Missense_Mutation	SNP	A	A	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr17:73736517A>T	ENST00000200181.3	+	21	2712	c.2525A>T	c.(2524-2526)cAg>cTg	p.Q842L	ITGB4_ENST00000450894.3_Missense_Mutation_p.Q842L|ITGB4_ENST00000579662.1_Missense_Mutation_p.Q842L|ITGB4_ENST00000449880.2_Missense_Mutation_p.Q842L|ITGB4_ENST00000339591.3_Missense_Mutation_p.Q842L|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	842					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)	p.Q842L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGTGCGCCCAGCTGCGCCAG	0.657																																						uc002jpg.2																			1	Substitution - Missense(1)		lung(1)	lung(4)	4						c.(2524-2526)CAG>CTG		integrin beta 4 isoform 1 precursor							48.0	47.0	47.0					17																	73736517		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73736517A>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.2525A>T	17.37:g.73736517A>T	ENSP00000200181:p.Gln842Leu					ITGB4_uc002jph.2_Missense_Mutation_p.Q842L|ITGB4_uc010dgo.2_Missense_Mutation_p.Q842L|ITGB4_uc002jpi.3_Missense_Mutation_p.Q842L|ITGB4_uc010dgp.1_Missense_Mutation_p.Q842L|ITGB4_uc002jpj.2_Missense_Mutation_p.Q842L	p.Q842L	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		21	2712	+	all_cancers(13;1.5e-07)		842			Cytoplasmic (Potential).		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.2525A>T	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	A	9.718	1.158830	0.21454	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.76316	-1.01;-0.93;-0.93	4.97	4.97	0.65823	.	0.143577	0.47852	D	0.000214	T	0.71995	0.3406	L	0.32530	0.975	0.52099	D	0.999947	P;B;D;B	0.55172	0.831;0.033;0.97;0.154	B;B;P;B	0.45138	0.36;0.073;0.471;0.101	T	0.76940	-0.2773	10	0.87932	D	0	.	14.6444	0.68751	1.0:0.0:0.0:0.0	.	842;842;842;842	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	L	842	ENSP00000200181:Q842L;ENSP00000344079:Q842L;ENSP00000400217:Q842L	ENSP00000200181:Q842L	Q	+	2	0	ITGB4	71248112	1.000000	0.71417	1.000000	0.80357	0.116000	0.19942	3.248000	0.51430	1.866000	0.54105	0.379000	0.24179	CAG		PASS	0.657	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			56	30	56	30	---	---	---	---
AATK	9625	broad.mit.edu	37	17	79095665	79095665	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr17:79095665G>T	ENST00000326724.4	-	11	2095	c.2071C>A	c.(2071-2073)Cgc>Agc	p.R691S	AATK_ENST00000417379.1_Missense_Mutation_p.R588S	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	691					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R691S(2)		endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TCTGGACAGCGGCTGCCGCTG	0.716																																						uc010dia.2																			2	Substitution - Missense(2)		lung(2)	stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(2071-2073)CGC>AGC		apoptosis-associated tyrosine kinase							6.0	8.0	8.0					17																	79095665		1542	3535	5077	SO:0001583	missense	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79095665G>T	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.2071C>A	17.37:g.79095665G>T	ENSP00000324196:p.Arg691Ser					AATK_uc010dhz.2_RNA	p.R691S	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		11	2151	-	all_neural(118;0.101)		691					O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	c.2071C>A	CCDS45807.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771061	0.31320	.	.	ENSG00000181409	ENST00000326724;ENST00000374792	T;T	0.78246	-1.08;-1.16	4.07	0.655	0.17839	.	0.821987	0.10301	N	0.691191	T	0.73040	0.3536	L	0.50333	1.59	0.09310	N	1	D	0.63880	0.993	P	0.51806	0.68	T	0.60301	-0.7290	10	0.12766	T	0.61	.	4.9757	0.14138	0.2013:0.0:0.6291:0.1696	.	691	Q6ZMQ8	LMTK1_HUMAN	S	691;655	ENSP00000324196:R691S;ENSP00000363924:R655S	ENSP00000324196:R691S	R	-	1	0	AATK	76710260	0.000000	0.05858	0.019000	0.16419	0.142000	0.21351	0.331000	0.19733	0.264000	0.21851	0.491000	0.48974	CGC		PASS	0.716	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		4	20	4	20	---	---	---	---
EMILIN2	84034	broad.mit.edu	37	18	2892173	2892173	+	Nonsense_Mutation	SNP	C	C	A	rs544310868		TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr18:2892173C>A	ENST00000254528.3	+	4	2207	c.2048C>A	c.(2047-2049)tCg>tAg	p.S683*		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	683					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.S683*(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAGGTCATCTCGGAGCTGGAT	0.602																																						uc002kln.2																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2047-2049)TCG>TAG		elastin microfibril interfacer 2 precursor							90.0	94.0	93.0					18																	2892173		2203	4300	6503	SO:0001587	stop_gained	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2892173C>A	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2048C>A	18.37:g.2892173C>A	ENSP00000254528:p.Ser683*						p.S683*	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	2207	+			683					B2RMY3|Q8NBH3|Q96JQ4	Nonsense_Mutation	SNP	ENST00000254528.3	37	c.2048C>A	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155916	0.94686	.	.	ENSG00000132205	ENST00000254528	.	.	.	5.03	3.2	0.36748	.	1.501710	0.03730	N	0.253321	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-0.2272	9.6676	0.39994	0.186:0.5774:0.2366:0.0	.	.	.	.	X	683	.	ENSP00000254528:S683X	S	+	2	0	EMILIN2	2882173	0.033000	0.19621	0.000000	0.03702	0.006000	0.05464	3.191000	0.50981	0.503000	0.28060	-0.302000	0.09304	TCG		PASS	0.602	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		41	157	41	157	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5395708	5395708	+	Splice_Site	SNP	T	T	G			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr18:5395708T>G	ENST00000341928.2	-	20	3314		c.e20-2		EPB41L3_ENST00000544123.1_Splice_Site|EPB41L3_ENST00000342933.3_Splice_Site|EPB41L3_ENST00000542146.1_Splice_Site|EPB41L3_ENST00000400111.3_Splice_Site|EPB41L3_ENST00000542652.2_Splice_Site|EPB41L3_ENST00000427684.2_Splice_Site|EPB41L3_ENST00000540638.2_Splice_Site	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3						apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGGATCGACCTAAAGCAGCAG	0.498																																						uc002kmt.1																			1	Unknown(1)		lung(1)	ovary(5)	5						c.e20-1		erythrocyte membrane protein band 4.1-like 3							219.0	172.0	188.0					18																	5395708		2203	4300	6503	SO:0001630	splice_region_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5395708T>G	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2974-2A>C	18.37:g.5395708T>G						EPB41L3_uc010wzh.1_Splice_Site_p.V823_splice|EPB41L3_uc002kmu.1_Splice_Site_p.V770_splice|EPB41L3_uc010dkq.1_Splice_Site_p.V661_splice|EPB41L3_uc002kms.1_Splice_Site_p.V227_splice|EPB41L3_uc010wze.1_Splice_Site_p.V297_splice|EPB41L3_uc010wzf.1_Splice_Site_p.V289_splice|EPB41L3_uc010wzg.1_Splice_Site_p.V264_splice|EPB41L3_uc010dkr.2_Splice_Site_p.V384_splice	p.V992_splice	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			20	3060	-								B7Z4I5|F5GX05|O95713|Q9BRP5	Splice_Site	SNP	ENST00000341928.2	37	c.2974_splice	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	14.14	2.445935	0.43429	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPB41L3	5385708	1.000000	0.71417	0.920000	0.36463	0.177000	0.22998	7.332000	0.79203	2.279000	0.76181	0.533000	0.62120	.		PASS	0.498	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	Intron	54	203	54	203	---	---	---	---
CD226	10666	broad.mit.edu	37	18	67531632	67531632	+	Missense_Mutation	SNP	G	G	C			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr18:67531632G>C	ENST00000280200.4	-	7	1197	c.929C>G	c.(928-930)aCc>aGc	p.T310S	CD226_ENST00000577287.1_Missense_Mutation_p.T155S|CD226_ENST00000581982.1_Missense_Mutation_p.T155S|CD226_ENST00000582621.1_Missense_Mutation_p.T310S	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	310					cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)	p.T310S(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GGATTGATTGGTAGGTTGACT	0.388																																					NSCLC(184;838 2130 8673 21498 50749)	uc010dqo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(928-930)ACC>AGC		CD226 molecule precursor							248.0	217.0	228.0					18																	67531632		2203	4300	6503	SO:0001583	missense	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67531632G>C	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.929C>G	18.37:g.67531632G>C	ENSP00000280200:p.Thr310Ser					CD226_uc002lkm.3_Missense_Mutation_p.T310S	p.T310S	NM_006566	NP_006557	Q15762	CD226_HUMAN			6	1376	-		Esophageal squamous(42;0.129)	310			Cytoplasmic (Potential).		B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	c.929C>G	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	G	7.203	0.593865	0.13875	.	.	ENSG00000150637	ENST00000280200	T	0.22134	1.97	5.15	2.35	0.29111	.	2.536980	0.01086	N	0.005099	T	0.12689	0.0308	N	0.17082	0.46	0.09310	N	1	B	0.21905	0.062	B	0.14023	0.01	T	0.23404	-1.0189	10	0.10636	T	0.68	.	4.6773	0.12719	0.18:0.0:0.6473:0.1727	.	310	Q15762	CD226_HUMAN	S	310	ENSP00000280200:T310S	ENSP00000280200:T310S	T	-	2	0	CD226	65682612	0.010000	0.17322	0.012000	0.15200	0.003000	0.03518	0.334000	0.19787	0.413000	0.25759	-0.237000	0.12165	ACC		PASS	0.388	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566		28	11	28	11	---	---	---	---
FSD1	79187	broad.mit.edu	37	19	4310281	4310281	+	Missense_Mutation	SNP	A	A	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr19:4310281A>T	ENST00000221856.6	+	5	504	c.357A>T	c.(355-357)caA>caT	p.Q119H	FSD1_ENST00000597590.1_Missense_Mutation_p.Q119H|FSD1_ENST00000598010.1_3'UTR	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	119	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.Q119H(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCAAGCAAATCAAAGATG	0.527																																						uc002lzy.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(355-357)CAA>CAT		fibronectin type III and SPRY domain containing							134.0	153.0	147.0					19																	4310281		2203	4300	6503	SO:0001583	missense	79187				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus		g.chr19:4310281A>T	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"""Fibronectin type III domain containing"""	13745	protein-coding gene	gene with protein product		609828	"""fibronectin type 3 and SPRY domain containing 1"""			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.357A>T	19.37:g.4310281A>T	ENSP00000221856:p.Gln119His					FSD1_uc010xie.1_Missense_Mutation_p.Q106H|FSD1_uc010xif.1_Missense_Mutation_p.N103Y|FSD1_uc002lzz.2_Missense_Mutation_p.Q119H|FSD1_uc002maa.2_5'Flank	p.Q119H	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)	5	510	+			119			COS.		B2RDT0|Q9BXN0|Q9HAG4	Missense_Mutation	SNP	ENST00000221856.6	37	c.357A>T	CCDS12127.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932587	0.52866	.	.	ENSG00000105255	ENST00000221856	T	0.47177	0.85	5.29	1.58	0.23477	B-box, C-terminal (1);COS domain (1);	0.183790	0.47852	D	0.000203	T	0.37812	0.1017	L	0.52573	1.65	0.29625	N	0.845874	B;B	0.22541	0.071;0.002	B;B	0.26202	0.067;0.009	T	0.31475	-0.9942	10	0.45353	T	0.12	.	6.4104	0.21688	0.5413:0.0:0.4587:0.0	.	106;119	B4DIC5;Q9BTV5	.;FSD1_HUMAN	H	119	ENSP00000221856:Q119H	ENSP00000221856:Q119H	Q	+	3	2	FSD1	4261281	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.000000	0.49481	0.423000	0.26033	0.418000	0.28097	CAA		PASS	0.527	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333		139	31	139	31	---	---	---	---
APLP1	333	broad.mit.edu	37	19	36369793	36369793	+	Splice_Site	SNP	T	T	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr19:36369793T>A	ENST00000221891.4	+	15	1844	c.1652T>A	c.(1651-1653)gTg>gAg	p.V551E	APLP1_ENST00000537454.2_Splice_Site_p.V511E|APLP1_ENST00000586861.1_Splice_Site_p.V544E|RN7SL402P_ENST00000465059.1_RNA	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	550					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)	p.V551E(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCCCCAGGTGAATGCGTCT	0.582																																						uc002oce.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1648-1650)GTG>GAG		amyloid precursor-like protein 1 isoform 2							77.0	78.0	78.0					19																	36369793		2203	4300	6503	SO:0001630	splice_region_variant	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36369793T>A	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1651-1T>A	19.37:g.36369793T>A						APLP1_uc010xsz.1_Missense_Mutation_p.V511E|APLP1_uc002ocf.2_Missense_Mutation_p.V551E|APLP1_uc002ocg.2_Missense_Mutation_p.V454E|APLP1_uc010xta.1_Missense_Mutation_p.V544E	p.V550E	NM_005166	NP_005157	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		15	1787	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		550			Extracellular (Potential).		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.1649T>A	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.042757	0.75732	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.95001	-3.51;-3.58	5.32	5.32	0.75619	.	0.207171	0.24065	N	0.041876	D	0.92358	0.7575	N	0.24115	0.695	0.44323	D	0.997201	D;B;D;B	0.54047	0.964;0.026;0.963;0.361	P;B;P;B	0.54759	0.601;0.038;0.76;0.046	D	0.90572	0.4523	10	0.27082	T	0.32	-24.6746	11.6744	0.51422	0.0:0.0:0.0:1.0	.	544;511;551;550	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	E	511;551	ENSP00000441501:V511E;ENSP00000221891:V551E	ENSP00000221891:V551E	V	+	2	0	APLP1	41061633	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.796000	0.55507	2.014000	0.59158	0.533000	0.62120	GTG		PASS	0.582	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807	Missense_Mutation	55	53	55	53	---	---	---	---
CYP2F1	1572	broad.mit.edu	37	19	41633927	41633927	+	Silent	SNP	A	A	G	rs199585359	byFrequency	TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr19:41633927A>G	ENST00000331105.2	+	10	1488	c.1416A>G	c.(1414-1416)ccA>ccG	p.P472P		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	472					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.P472P(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						ACCTGACCCCACTCAGCTCAG	0.652													g|||	36	0.0071885	0.0045	0.0144	5008	,	,		17183	0.006		0.005	False		,,,				2504	0.0092					uc002opu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1414-1416)CCA>CCG		cytochrome P450, family 2, subfamily F,							30.0	34.0	33.0					19																	41633927		2203	4300	6503	SO:0001819	synonymous_variant	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41633927A>G	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1416A>G	19.37:g.41633927A>G						CYP2F1_uc010xvw.1_Intron|CYP2F1_uc002opv.1_RNA	p.P472P	NM_000774	NP_000765	P24903	CP2F1_HUMAN			10	1472	+			472					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	ENST00000331105.2	37	c.1416A>G	CCDS12572.1																																																																																				PASS	0.652	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			5	35	5	35	---	---	---	---
C20orf27	54976	broad.mit.edu	37	20	3734752	3734752	+	Nonsense_Mutation	SNP	C	C	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr20:3734752C>A	ENST00000379772.3	-	6	1288	c.478G>T	c.(478-480)Gag>Tag	p.E160*	C20orf27_ENST00000217195.8_Nonsense_Mutation_p.E185*	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	160								p.E185*(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						TATTCCAGCTCGGCGCCCACA	0.682																																						uc002wji.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(478-480)GAG>TAG		hypothetical protein LOC54976							55.0	44.0	48.0					20																	3734752		2203	4300	6503	SO:0001587	stop_gained	54976							g.chr20:3734752C>A	AK000557	CCDS33436.1, CCDS58763.1	20p13	2011-01-25			ENSG00000101220	ENSG00000101220			15873	protein-coding gene	gene with protein product	"""hypothetical protein LOC54976"""					11780052	Standard	NM_001258429		Approved	FLJ20550	uc002wjh.2	Q9GZN8	OTTHUMG00000031753	ENST00000379772.3:c.478G>T	20.37:g.3734752C>A	ENSP00000369097:p.Glu160*					C20orf27_uc002wjf.1_3'UTR|C20orf27_uc002wjh.1_Nonsense_Mutation_p.E185*	p.E160*	NM_001039140	NP_001034229	Q9GZN8	CT027_HUMAN			6	707	-			160					A8K4J0|D3DVX8|Q5JX81|Q9NWX3	Nonsense_Mutation	SNP	ENST00000379772.3	37	c.478G>T	CCDS58763.1	.	.	.	.	.	.	.	.	.	.	C	31	5.103549	0.94245	.	.	ENSG00000101220	ENST00000379772;ENST00000217195;ENST00000399672;ENST00000379765	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.2983	16.1432	0.81544	0.0:1.0:0.0:0.0	.	.	.	.	X	160;185;160;119	.	ENSP00000217195:E185X	E	-	1	0	C20orf27	3682752	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	7.215000	0.77966	2.666000	0.90696	0.655000	0.94253	GAG		PASS	0.682	C20orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077750.2	NM_001039140		11	7	11	7	---	---	---	---
NPTXR	23467	broad.mit.edu	37	22	39224455	39224455	+	Silent	SNP	G	G	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr22:39224455G>A	ENST00000333039.2	-	2	810	c.687C>T	c.(685-687)acC>acT	p.T229T		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	229						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.T229T(1)		central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					AGTGTAGGCCGGTGGGCACAG	0.647																																					Pancreas(139;2521 3281 36965)	uc003awk.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(685-687)ACC>ACT		neuronal pentraxin receptor							18.0	18.0	18.0					22																	39224455		2203	4299	6502	SO:0001819	synonymous_variant	23467					integral to membrane	metal ion binding	g.chr22:39224455G>A	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.687C>T	22.37:g.39224455G>A							p.T229T	NM_014293	NP_055108	O95502	NPTXR_HUMAN			2	841	-	Melanoma(58;0.04)		229			Extracellular (Potential).			Silent	SNP	ENST00000333039.2	37	c.687C>T	CCDS33647.1																																																																																				PASS	0.647	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318194.2	NM_014293		6	8	6	8	---	---	---	---
MAGEB18	286514	broad.mit.edu	37	X	26157145	26157145	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chrX:26157145C>A	ENST00000325250.1	+	2	230	c.43C>A	c.(43-45)Cgc>Agc	p.R15S		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	15						cytoplasm (GO:0005737)		p.R15S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CCGTGAGAAACGCCACCAGGC	0.532																																						uc004dbq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(43-45)CGC>AGC		melanoma antigen family B, 18							54.0	48.0	50.0					X																	26157145		2202	4300	6502	SO:0001583	missense	286514						protein binding	g.chrX:26157145C>A	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.43C>A	X.37:g.26157145C>A	ENSP00000314543:p.Arg15Ser						p.R15S	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN			2	230	+			15						Missense_Mutation	SNP	ENST00000325250.1	37	c.43C>A	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532431	0.27387	.	.	ENSG00000176774	ENST00000325250	T	0.06218	3.33	4.15	0.302	0.15786	Melanoma associated antigen, MAGE, N-terminal (1);	0.837938	0.10321	N	0.688774	T	0.22859	0.0552	M	0.88105	2.93	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.10428	-1.0630	10	0.41790	T	0.15	.	2.8955	0.05689	0.1999:0.4541:0.0:0.346	.	15	Q96M61	MAGBI_HUMAN	S	15	ENSP00000314543:R15S	ENSP00000314543:R15S	R	+	1	0	MAGEB18	26067066	0.213000	0.23551	0.000000	0.03702	0.169000	0.22640	0.515000	0.22801	-0.081000	0.12662	-0.191000	0.12829	CGC		PASS	0.532	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		8	6	8	6	---	---	---	---
MAGEB18	286514	broad.mit.edu	37	X	26157185	26157185	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chrX:26157185C>A	ENST00000325250.1	+	2	270	c.83C>A	c.(82-84)aCg>aAg	p.T28K		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	28						cytoplasm (GO:0005737)		p.T28K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CTGGGAGCTACGCAGGCCACT	0.552																																						uc004dbq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(82-84)ACG>AAG		melanoma antigen family B, 18							51.0	45.0	47.0					X																	26157185		2202	4300	6502	SO:0001583	missense	286514						protein binding	g.chrX:26157185C>A	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.83C>A	X.37:g.26157185C>A	ENSP00000314543:p.Thr28Lys						p.T28K	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN			2	270	+			28						Missense_Mutation	SNP	ENST00000325250.1	37	c.83C>A	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341270	0.41498	.	.	ENSG00000176774	ENST00000325250	T	0.04603	3.59	3.78	2.91	0.33838	Melanoma associated antigen, MAGE, N-terminal (1);	0.549918	0.17883	N	0.158797	T	0.04952	0.0133	L	0.38175	1.15	0.09310	N	1	P	0.41546	0.754	B	0.41374	0.355	T	0.32268	-0.9913	10	0.66056	D	0.02	.	6.2309	0.20734	0.0:0.8619:0.0:0.1381	.	28	Q96M61	MAGBI_HUMAN	K	28	ENSP00000314543:T28K	ENSP00000314543:T28K	T	+	2	0	MAGEB18	26067106	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.110000	0.10824	0.974000	0.38366	0.600000	0.82982	ACG		PASS	0.552	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		12	4	12	4	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32662275	32662275	+	Missense_Mutation	SNP	C	C	G			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chrX:32662275C>G	ENST00000357033.4	-	11	1511	c.1305G>C	c.(1303-1305)agG>agC	p.R435S	MIR548F5_ENST00000408421.1_RNA|DMD_ENST00000288447.4_Missense_Mutation_p.R427S|DMD_ENST00000378677.2_Missense_Mutation_p.R431S	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	435					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R431S(1)|p.R430S(1)|p.R435S(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGCTAGCTACCCTGAGGCATT	0.353																																						uc004dda.1																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(1303-1305)AGG>AGC		dystrophin Dp427m isoform							169.0	144.0	152.0					X																	32662275		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32662275C>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1305G>C	X.37:g.32662275C>G	ENSP00000354923:p.Arg435Ser					DMD_uc004dcz.2_Missense_Mutation_p.R312S|DMD_uc004dcy.1_Missense_Mutation_p.R431S|DMD_uc004ddb.1_Missense_Mutation_p.R427S|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.R427S|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|MIR548F5_hsa-mir-548f-5|MI0006378_5'Flank	p.R435S	NM_004006	NP_003997	P11532	DMD_HUMAN			11	1549	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	435			Spectrin 1.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.1305G>C	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354295	0.61293	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.50548	0.74;0.74;0.74	5.83	4.08	0.47627	.	0.000000	0.38959	U	0.001509	T	0.67487	0.2898	M	0.85630	2.765	0.80722	D	1	D;D;D;D	0.89917	0.957;1.0;0.992;1.0	P;D;D;D	0.87578	0.741;0.996;0.93;0.998	T	0.67401	-0.5680	10	0.66056	D	0.02	.	7.033	0.24977	0.1387:0.7152:0.0:0.1461	.	427;427;435;431	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	S	427;431;435;435;312;427	ENSP00000367948:R431S;ENSP00000354923:R435S;ENSP00000288447:R427S	ENSP00000288447:R427S	R	-	3	2	DMD	32572196	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.738000	0.26158	0.633000	0.30452	0.591000	0.81541	AGG		PASS	0.353	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		40	6	40	6	---	---	---	---
MED14	9282	broad.mit.edu	37	X	40562733	40562733	+	Silent	SNP	T	T	C			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chrX:40562733T>C	ENST00000324817.1	-	11	1492	c.1374A>G	c.(1372-1374)ttA>ttG	p.L458L		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	458	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.L458L(1)		NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCCAGAATGTAAATCTACAA	0.333																																						uc004dex.3																			1	Substitution - coding silent(1)		lung(1)	breast(2)|kidney(1)|skin(1)	4						c.(1372-1374)TTA>TTG		mediator complex subunit 14							52.0	48.0	49.0					X																	40562733		2203	4300	6503	SO:0001819	synonymous_variant	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40562733T>C	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.1374A>G	X.37:g.40562733T>C							p.L458L	NM_004229	NP_004220	O60244	MED14_HUMAN			11	1514	-			458			Interaction with STAT2.		Q4KMR7|Q9UNB3	Silent	SNP	ENST00000324817.1	37	c.1374A>G	CCDS14254.1																																																																																				PASS	0.333	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		30	5	30	5	---	---	---	---
APEX2	27301	broad.mit.edu	37	X	55033379	55033379	+	Silent	SNP	G	G	C			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chrX:55033379G>C	ENST00000374987.3	+	6	1134	c.1068G>C	c.(1066-1068)acG>acC	p.T356T	ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	356					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)	p.T356T(1)		breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						AGCAGTCGACGCTGCAGCACA	0.567								Other BER factors																														uc004dtz.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1066-1068)ACG>ACC	Other_BER_factors	apurinic/apyrimidinic endonuclease 2							60.0	51.0	54.0					X																	55033379		2203	4300	6503	SO:0001819	synonymous_variant	27301				cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	g.chrX:55033379G>C	AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.1068G>C	X.37:g.55033379G>C						APEX2_uc011mom.1_Silent_p.T185T	p.T356T	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN			6	1144	+			356					Q9Y5X7	Silent	SNP	ENST00000374987.3	37	c.1068G>C	CCDS14365.1																																																																																				PASS	0.567	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1			21	4	21	4	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73071409	73071409	+	lincRNA	SNP	C	C	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chrX:73071409C>T	ENST00000429829.1	-	0	1179					NR_001564.2				X inactive specific transcript (non-protein coding)																		AGCCCTGCACCTTAGTCTTTC	0.453																																						uc004ebm.1																			0					0								Homo sapiens cDNA: FLJ21545 fis, clone COL06195.							107.0	100.0	102.0					X																	73071409		876	1991	2867			7503							g.chrX:73071409C>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73071409C>T								NR_001564						1		-									RNA	SNP	ENST00000429829.1	37	c.1180G>A																																																																																					PASS	0.453	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		36	38	36	38	---	---	---	---
NAP1L3	4675	broad.mit.edu	37	X	92927282	92927282	+	Nonsense_Mutation	SNP	G	G	T	rs139021145	byFrequency	TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chrX:92927282G>T	ENST00000373079.3	-	1	1285	c.1022C>A	c.(1021-1023)tCg>tAg	p.S341*	FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_Nonsense_Mutation_p.S334*	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	341					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.S341*(1)|p.S341L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GCTAACATCCGACAAGAACTT	0.428																																						uc004efq.2																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		large_intestine(1)|lung(1)	ovary(1)|skin(1)	2						c.(1021-1023)TCG>TAG		nucleosome assembly protein 1-like 3							53.0	48.0	50.0					X																	92927282		2203	4300	6503	SO:0001587	stop_gained	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92927282G>T		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.1022C>A	X.37:g.92927282G>T	ENSP00000362171:p.Ser341*					FAM133A_uc004efr.1_5'Flank	p.S341*	NM_004538	NP_004529	Q99457	NP1L3_HUMAN			1	1327	-			341					B2RCM0|O60788	Nonsense_Mutation	SNP	ENST00000373079.3	37	c.1022C>A	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	G	36	5.738825	0.96873	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	.	.	.	3.68	1.78	0.24846	.	0.174139	0.49916	D	0.000123	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	8.7512	0.34616	0.0:0.0:0.401:0.599	.	.	.	.	X	341;334	.	ENSP00000362171:S341X	S	-	2	0	NAP1L3	92813938	1.000000	0.71417	0.703000	0.30354	0.932000	0.56968	3.422000	0.52749	0.328000	0.23435	0.529000	0.55759	TCG		PASS	0.428	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		38	5	38	5	---	---	---	---
NOX1	27035	broad.mit.edu	37	X	100117172	100117172	+	Silent	SNP	C	C	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chrX:100117172C>T	ENST00000372966.3	-	7	997	c.792G>A	c.(790-792)ggG>ggA	p.G264G	NOX1_ENST00000217885.5_Silent_p.G264G|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Silent_p.G227G	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	264	Ferric oxidoreductase.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)	p.G264G(1)		cervix(1)|lung(3)|ovary(1)|skin(2)	7						CAGGGGGATGCCCTTCAAACT	0.453																																						uc004egj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(790-792)GGG>GGA		NADPH oxidase 1 isoform long							116.0	109.0	111.0					X																	100117172		2203	4299	6502	SO:0001819	synonymous_variant	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100117172C>T	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.792G>A	X.37:g.100117172C>T						uc010nnf.2_Intron|NOX1_uc004egl.3_Silent_p.G264G|NOX1_uc010nne.2_Silent_p.G227G	p.G264G	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN			7	998	-			264			Ferric oxidoreductase.|Extracellular (Potential).		A8K836|O95691|Q2PP02	Silent	SNP	ENST00000372966.3	37	c.792G>A	CCDS14474.1																																																																																				PASS	0.453	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		100	6	100	6	---	---	---	---
BTK	695	broad.mit.edu	37	X	100604918	100604918	+	Missense_Mutation	SNP	T	T	G			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chrX:100604918T>G	ENST00000308731.7	-	19	2098	c.1935A>C	c.(1933-1935)aaA>aaC	p.K645N	BTK_ENST00000372880.1_Missense_Mutation_p.K469N|TIMM8A_ENST00000372902.3_5'Flank|TIMM8A_ENST00000480575.1_5'Flank	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	645	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.K645N(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCAGAAGAATTTTGAAAGTGG	0.403									Agammaglobulinemia, X-linked																													uc004ehg.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(2)|ovary(1)	6						c.(1933-1935)AAA>AAC		Bruton agammaglobulinemia tyrosine kinase							131.0	131.0	131.0					X																	100604918		2203	4300	6503	SO:0001583	missense	695	Agammaglobulinemia_X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100604918T>G	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1935A>C	X.37:g.100604918T>G	ENSP00000308176:p.Lys645Asn					TIMM8A_uc004ehd.2_5'Flank|TIMM8A_uc011mri.1_5'Flank|BTK_uc004ehf.2_Missense_Mutation_p.K145N|BTK_uc010nnh.2_RNA|BTK_uc010nni.2_RNA|BTK_uc004ehe.2_RNA|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_RNA|BTK_uc010nnl.2_Missense_Mutation_p.K121N|BTK_uc010nnm.2_Missense_Mutation_p.K204N|BTK_uc010nnn.2_Missense_Mutation_p.K469N|BTK_uc010nno.2_Missense_Mutation_p.K679N	p.K645N	NM_000061	NP_000052	Q06187	BTK_HUMAN			19	2128	-			645			Protein kinase.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.1935A>C	CCDS14482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.15|18.15	3.559817|3.559817	0.65538|0.65538	.|.	.|.	ENSG00000010671|ENSG00000010671	ENST00000372880;ENST00000372855;ENST00000372859;ENST00000372860;ENST00000308731|ENST00000395179	D;D|.	0.83335|.	-1.71;-1.71|.	5.14|5.14	3.97|3.97	0.46021|0.46021	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.370483|0.370483	0.30686|0.30686	N|N	0.009086|0.009086	T|T	0.43700|0.43700	0.1259|0.1259	N|N	0.25245|0.25245	0.725|0.725	0.35214|0.35214	D|D	0.775441|0.775441	B;B;P;B|.	0.44734|.	0.05;0.005;0.842;0.147|.	B;B;P;B|.	0.45610|.	0.046;0.017;0.487;0.072|.	T|T	0.58092|0.58092	-0.7697|-0.7697	10|7	0.40728|0.72032	T|D	0.16|0.01	.|.	7.7073|7.7073	0.28657|0.28657	0.0:0.1013:0.0:0.8987|0.0:0.1013:0.0:0.8987	.|.	469;305;220;645|.	Q5JY90;Q3MS96;Q572P5;Q06187|.	.;.;.;BTK_HUMAN|.	N|T	469;194;125;220;645|170	ENSP00000361971:K469N;ENSP00000308176:K645N|.	ENSP00000308176:K645N|ENSP00000378608:K170T	K|K	-|-	3|2	2|0	BTK|BTK	100491574|100491574	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	1.147000|1.147000	0.31602|0.31602	1.831000|1.831000	0.53308|0.53308	0.425000|0.425000	0.28330|0.28330	AAA|AAA		PASS	0.403	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		130	13	130	13	---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111195615	111195615	+	Missense_Mutation	SNP	A	A	T			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chrX:111195615A>T	ENST00000262839.2	-	2	952	c.34T>A	c.(34-36)Tca>Aca	p.S12T		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	12					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.S12T(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGTACGGTGAGTAGTTGACC	0.488																																						uc004epl.1																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)	1						c.(34-36)TCA>ACA		transient receptor potential cation channel,							81.0	67.0	72.0					X																	111195615		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111195615A>T	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.34T>A	X.37:g.111195615A>T	ENSP00000262839:p.Ser12Thr					TRPC5_uc004epm.1_Missense_Mutation_p.S12T	p.S12T	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			2	953	-			12			Cytoplasmic (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.34T>A	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.227258	0.79576	.	.	ENSG00000072315	ENST00000262839	T	0.71222	-0.55	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.66703	0.2816	L	0.29908	0.895	0.51482	D	0.999926	P;P	0.51791	0.749;0.948	B;P	0.48400	0.206;0.576	T	0.68538	-0.5382	10	0.45353	T	0.12	-20.2614	14.7575	0.69576	1.0:0.0:0.0:0.0	.	13;12	Q59G51;Q9UL62	.;TRPC5_HUMAN	T	12	ENSP00000262839:S12T	ENSP00000262839:S12T	S	-	1	0	TRPC5	111082271	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.962000	0.70364	1.866000	0.54105	0.486000	0.48141	TCA		PASS	0.488	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		39	3	39	3	---	---	---	---
OR2B11	127623	broad.mit.edu	37	1	247614957	247614957	+	Frame_Shift_Del	DEL	A	A	-			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr1:247614957delA	ENST00000318749.6	-	1	351	c.328delT	c.(328-330)tggfs	p.W110fs		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	110						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(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CATCCCAGCCAGTGGAAGACT	0.597																																						uc010pyx.1																			0				upper_aerodigestive_tract(1)	1						c.(328-330)TGGfs		olfactory receptor, family 2, subfamily B,							88.0	81.0	83.0					1																	247614957		2203	4300	6503	SO:0001589	frameshift_variant	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614957delA		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.328delT	1.37:g.247614957delA	ENSP00000325682:p.Trp110fs						p.W110fs	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	328	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	110			Helical; Name=3; (Potential).		B2RP03	Frame_Shift_Del	DEL	ENST00000318749.6	37	c.328delT	CCDS31090.1																																																																																					0.597	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		45	62	45	62	---	---	---	---
MEMO1	51072	broad.mit.edu	37	2	32168371	32168371	+	Splice_Site	DEL	G	G	-			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr2:32168371delG	ENST00000295065.5	-	2	452	c.143delC	c.(142-144)ccc>cc	p.P48fs	MEMO1_ENST00000426310.2_Splice_Site_p.P48fs|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000490459.1_5'UTR|MEMO1_ENST00000407893.3_Splice_Site_p.P48fs|MEMO1_ENST00000379383.3_Splice_Site_p.P51fs|MEMO1_ENST00000404530.1_Splice_Site_p.P48fs	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	48					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					aaaGACTTACGGGGCAATAAT	0.443																																						uc002rnx.2																			0				ovary(1)|skin(1)	2						c.(142-144)CCCfs		mediator of cell motility 1 isoform 1							102.0	104.0	103.0					2																	32168371		2203	4300	6503	SO:0001630	splice_region_variant	51072				regulation of microtubule-based process	cytosol|nucleus		g.chr2:32168371delG	AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"""chromosome 2 open reading frame 4"""	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.143+1C>-	2.37:g.32168371delG						MEMO1_uc010ymu.1_Frame_Shift_Del_p.P48fs|MEMO1_uc010ezq.2_Frame_Shift_Del_p.P48fs|MEMO1_uc002rny.2_RNA|MEMO1_uc002rnz.2_RNA|MEMO1_uc010ymv.1_RNA	p.P48fs	NM_015955	NP_057039	Q9Y316	MEMO1_HUMAN			2	525	-	Acute lymphoblastic leukemia(172;0.155)		48					B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Frame_Shift_Del	DEL	ENST00000295065.5	37	c.143delC	CCDS1776.1																																																																																					0.443	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2	NM_015955	Frame_Shift_Del	143	88	143	88	---	---	---	---
CRIM1	51232	broad.mit.edu	37	2	36726430	36726435	+	In_Frame_Del	DEL	GACTGC	GACTGC	-			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr2:36726430_36726435delGACTGC	ENST00000280527.2	+	8	1808_1813	c.1441_1446delGACTGC	c.(1441-1446)gactgcdel	p.DC481del		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	481	Antistasin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00582}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GACAGGGAAGGACTGCATTAATGGTT	0.403																																						uc002rpd.2																			0				ovary(2)|skin(1)	3						c.(1441-1446)GACTGCdel		cysteine-rich motor neuron 1 precursor																																				SO:0001651	inframe_deletion	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36726430_36726435delGACTGC	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1441_1446delGACTGC	2.37:g.36726430_36726435delGACTGC	ENSP00000280527:p.Asp481_Cys482del						p.DC481del	NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN			8	1480_1485	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	481_482			Antistasin-like 1.|Extracellular (Potential).		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	In_Frame_Del	DEL	ENST00000280527.2	37	c.1441_1446delGACTGC	CCDS1783.1																																																																																					0.403	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		93	45	93	45	---	---	---	---
NUTM1	256646	broad.mit.edu	37	15	34646003	34646003	+	Frame_Shift_Del	DEL	C	C	-			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr15:34646003delC	ENST00000333756.4	+	4	1076	c.921delC	c.(919-921)ggcfs	p.G307fs	NUTM1_ENST00000438749.3_Frame_Shift_Del_p.G325fs|NUTM1_ENST00000537011.1_Frame_Shift_Del_p.G335fs	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	307						cytoplasm (GO:0005737)|nucleus (GO:0005634)											GGTCTCAGGGCCTGTCTCCTG	0.542																																						uc001zif.2										T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(919-921)GGCfs		nuclear protein in testis							142.0	128.0	133.0					15																	34646003		2201	4298	6499	SO:0001589	frameshift_variant	256646					cytoplasm|nucleus		g.chr15:34646003delC	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.921delC	15.37:g.34646003delC	ENSP00000329448:p.Gly307fs					C15orf55_uc010ucc.1_Frame_Shift_Del_p.G335fs|C15orf55_uc010ucd.1_Frame_Shift_Del_p.G325fs	p.G307fs	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	4	1076	+		all_lung(180;2.78e-08)	307					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Frame_Shift_Del	DEL	ENST00000333756.4	37	c.921delC	CCDS32190.1																																																																																					0.542	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		66	69	66	69	---	---	---	---
TMEM97	27346	broad.mit.edu	37	17	26653806	26653807	+	Frame_Shift_Ins	INS	-	-	A			TCGA-70-6723-01A-11D-1817-08	TCGA-70-6723-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7483ea9f-8587-41e7-9ae5-d9223b76f33e	a5e025df-7d3e-4143-8f12-763b4bacba25	g.chr17:26653806_26653807insA	ENST00000226230.6	+	3	663_664	c.518_519insA	c.(517-522)agaaaafs	p.RK173fs	TMEM97_ENST00000583381.1_Frame_Shift_Ins_p.RK66fs|TMEM97_ENST00000336687.6_Frame_Shift_Ins_p.RK66fs	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	173					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)		p.K176fs?(1)		endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GAAGAGAAAAGAAAAAAAAAAT	0.441																																						uc002hat.2																			1	Deletion - Frameshift(1)		lung(1)		0						c.(517-519)AGAfs		transmembrane protein 97																																				SO:0001589	frameshift_variant	27346				cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding	g.chr17:26653806_26653807insA	BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.528dupA	17.37:g.26653816_26653816dupA	ENSP00000226230:p.Arg173fs						p.R173fs	NM_014573	NP_055388	Q5BJF2	TMM97_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	3	663_664	+	all_lung(13;0.000238)|Lung NSC(42;0.000789)		173			Cytoplasmic (Potential).		B4DS02|Q07823	Frame_Shift_Ins	INS	ENST00000226230.6	37	c.518_519insA	CCDS11226.2																																																																																					0.441	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255675.2	NM_014573		53	26	53	26	---	---	---	---
