#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MAP1B	4131	broad.mit.edu	37	5	71492290	71492290	+	Silent	SNP	G	G	A	rs150527364		TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr5:71492290G>A	ENST00000296755.7	+	5	3406	c.3108G>A	c.(3106-3108)ccG>ccA	p.P1036P		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1036					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.P1036P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AATATGAGCCGGAAAAAATGG	0.517																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			1	Substitution - coding silent(1)	p.P1036P(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(3106-3108)ccG>ccA		microtubule-associated protein 1B		G		0,4406		0,0,2203	153.0	156.0	155.0		3108	-11.7	0.0	5	dbSNP_134	155	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MAP1B	NM_005909.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1036/2469	71492290	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71492290G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3108G>A	5.37:g.71492290G>A							p.P1036P	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	3406	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1036					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.3108G>A	CCDS4012.1																																																																																				0.517	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		3	50	0	0	0	1	0	3	50				
IGHG4	3503	broad.mit.edu	37	14	106090814	106090814	+	RNA	SNP	C	C	G	rs376149342		TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr14:106090814C>G	ENST00000390543.2	-	0	982							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CCCTGGCACTCATTTACCCAG	0.632																																						ENST00000390543.2																			0																				73.0	108.0	97.0					14																	106090814		1889	4143	6032			3503							g.chr14:106090814C>G	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106090814C>G														0	982	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.632	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		10	47	0	0	0	1	0	10	47				
PLPPR1	54886	broad.mit.edu	37	9	104075136	104075136	+	Silent	SNP	G	G	T	rs144819698		TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr9:104075136G>T	ENST00000374874.3	+	6	1132	c.693G>T	c.(691-693)ctG>ctT	p.L231L	LPPR1_ENST00000395056.2_Silent_p.L231L	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		231					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										AGCCGGTGCTGTGCCTCGGAA	0.562																																						ENST00000374874.3																			0											c.(691-693)ctG>ctT									131.0	122.0	125.0					9																	104075136		2203	4300	6503	SO:0001819	synonymous_variant	54886					integral to membrane	catalytic activity	g.chr9:104075136G>T																												ENST00000374874.3:c.693G>T	9.37:g.104075136G>T						LPPR1_ENST00000395056.2_Silent_p.L231L	p.L231L	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN			6	1132	+			231					Q5VX23|Q9NXE2	Silent	SNP	ENST00000374874.3	37	c.693G>T	CCDS6751.1																																																																																				0.562	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			4	74	1	0	0.00909568	1	0.00909568	4	74				
P4HTM	54681	broad.mit.edu	37	3	49028318	49028318	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr3:49028318G>A	ENST00000383729.4	+	2	778	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	RP13-131K19.2_ENST00000452042.1_RNA|P4HTM_ENST00000609406.1_3'UTR|P4HTM_ENST00000343546.4_Missense_Mutation_p.R136Q	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	136						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CACTTCATCCGAACCCTCAGC	0.642																																						ENST00000343546.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(406-408)cGa>cAa		prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	Vitamin C(DB00126)						76.0	51.0	59.0					3																	49028318		2203	4300	6503	SO:0001583	missense	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49028318G>A		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.407G>A	3.37:g.49028318G>A	ENSP00000373235:p.Arg136Gln					P4HTM_ENST00000383729.4_Missense_Mutation_p.R136Q|P4HTM_ENST00000468374.1_3'UTR	p.R136Q	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN			2	775	+			136					Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	c.407G>A	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734122	0.69189	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.78481	-1.18	4.42	2.26	0.28386	EF-hand-like domain (1);	0.149689	0.42420	D	0.000703	T	0.76385	0.3980	L	0.43923	1.385	0.33187	D	0.55039	D;D	0.67145	0.996;0.957	P;B	0.56788	0.806;0.289	T	0.79500	-0.1778	10	0.62326	D	0.03	-5.9929	6.3088	0.21153	0.3697:0.0:0.6303:0.0	.	136;136	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	Q	136	ENSP00000373235:R136Q	ENSP00000341422:R136Q	R	+	2	0	P4HTM	49003322	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	1.659000	0.37387	0.861000	0.35504	0.462000	0.41574	CGA		0.642	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		5	13	0	0	0	1	0	5	13				
PKD1L2	114780	broad.mit.edu	37	16	81253679	81253679	+	RNA	SNP	C	C	A			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr16:81253679C>A	ENST00000525539.1	-	0	296				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACCTACCCTCCGTGGTTCCAT	0.488																																						ENST00000599697.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(295-297)acG>acT		polycystic kidney disease 1-like 2							87.0	84.0	85.0					16																	81253679		2008	4162	6170			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81253679C>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81253679C>A						PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA	p.T99T			Q7Z442	PK1L2_HUMAN			1	296	-			99			C-type lectin.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.297G>T																																																																																					0.488	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			11	39	1	0	9.05144e-12	1	1.0444e-11	11	39				
STOML3	161003	broad.mit.edu	37	13	39544453	39544453	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr13:39544453C>T	ENST00000379631.4	-	5	729	c.385G>A	c.(385-387)Gca>Aca	p.A129T	STOML3_ENST00000423210.1_Missense_Mutation_p.A120T	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	129					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TTAGCCACTGCTGAGACAGCA	0.458																																						ENST00000379631.4																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11						c.(385-387)Gca>Aca		stomatin (EPB72)-like 3							175.0	166.0	169.0					13																	39544453		2203	4300	6503	SO:0001583	missense	161003					integral to membrane|plasma membrane		g.chr13:39544453C>T	BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.385G>A	13.37:g.39544453C>T	ENSP00000368952:p.Ala129Thr					STOML3_ENST00000423210.1_Missense_Mutation_p.A120T	p.A129T	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)	5	729	-		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)	129					B4E285|Q5JS35	Missense_Mutation	SNP	ENST00000379631.4	37	c.385G>A	CCDS9367.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626208	0.87560	.	.	ENSG00000133115	ENST00000379631;ENST00000423210	D;D	0.95035	-3.59;-3.59	5.75	5.75	0.90469	.	0.048500	0.85682	D	0.000000	D	0.97514	0.9186	M	0.88704	2.975	0.58432	D	0.999995	D;D	0.55605	0.972;0.972	D;D	0.62955	0.909;0.909	D	0.97907	1.0306	10	0.72032	D	0.01	-15.3997	18.5072	0.90901	0.0:1.0:0.0:0.0	.	120;129	B4E285;Q8TAV4	.;STML3_HUMAN	T	129;120	ENSP00000368952:A129T;ENSP00000401989:A120T	ENSP00000368952:A129T	A	-	1	0	STOML3	38442453	0.998000	0.40836	0.446000	0.26920	0.896000	0.52359	3.978000	0.56881	2.710000	0.92621	0.563000	0.77884	GCA		0.458	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2			5	121	0	0	0	1	0	5	121				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	63	0	0	0	1	0	4	63				
KMT2A	4297	broad.mit.edu	37	11	118376687	118376687	+	Silent	SNP	A	A	C			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr11:118376687A>C	ENST00000389506.5	+	27	10071	c.10071A>C	c.(10069-10071)tcA>tcC	p.S3357S	KMT2A_ENST00000354520.4_Silent_p.S3319S|KMT2A_ENST00000534358.1_Silent_p.S3360S			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3357					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GTAGTGCGTCAGTTCCAGGAC	0.493																																						ENST00000534358.1																			0											c.(10078-10080)tcA>tcC		lysine (K)-specific methyltransferase 2A							200.0	199.0	199.0					11																	118376687		2200	4295	6495	SO:0001819	synonymous_variant	4297							g.chr11:118376687A>C	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10071A>C	11.37:g.118376687A>C						KMT2A_ENST00000389506.5_Silent_p.S3357S|KMT2A_ENST00000354520.4_Silent_p.S3319S	p.S3360S	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	10103	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.10080A>C	CCDS31686.1																																																																																				0.493	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		27	53	0	0	0	1	0	27	53				
LAMA4	3910	broad.mit.edu	37	6	112452193	112452193	+	Silent	SNP	G	G	A			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr6:112452193G>A	ENST00000230538.7	-	29	4342	c.3945C>T	c.(3943-3945)gtC>gtT	p.V1315V	LAMA4_ENST00000424408.2_Silent_p.V1308V|LAMA4_ENST00000522006.1_Silent_p.V1308V|LAMA4_ENST00000389463.4_Silent_p.V1308V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1315	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGAGCTAATGACGAAGTGGG	0.408																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(3943-3945)gtC>gtT		laminin, alpha 4							266.0	219.0	235.0					6																	112452193		2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112452193G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.3945C>T	6.37:g.112452193G>A						LAMA4_ENST00000389463.4_Silent_p.V1308V|LAMA4_ENST00000424408.2_Silent_p.V1308V|LAMA4_ENST00000522006.1_Silent_p.V1308V	p.V1315V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	29	4342	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1315			Laminin G-like 3.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.3945C>T	CCDS43491.1																																																																																				0.408	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		5	21	0	0	0	1	0	5	21				
BIRC3	330	broad.mit.edu	37	11	102195247	102195247	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr11:102195247A>G	ENST00000263464.3	+	2	2757	c.7A>G	c.(7-9)Ata>Gta	p.I3V	BIRC3_ENST00000532808.1_Missense_Mutation_p.I3V	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	3					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		CATTATGAACATAGTAGAAAA	0.373			T	MALT1	MALT																																	ENST00000263464.3				Dom	yes		11	11q22-q23	330	T	baculoviral IAP repeat-containing 3			L	MALT1		MALT		0				endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21						c.(7-9)Ata>Gta		baculoviral IAP repeat containing 3							89.0	85.0	86.0					11																	102195247		2203	4299	6502	SO:0001583	missense	330				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102195247A>G	L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.7A>G	11.37:g.102195247A>G	ENSP00000263464:p.Ile3Val					BIRC3_ENST00000532808.1_Missense_Mutation_p.I3V	p.I3V	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)	2	2757	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	3					Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	c.7A>G	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	A	8.673	0.903390	0.17760	.	.	ENSG00000023445	ENST00000263464;ENST00000532808	T;T	0.20738	2.05;2.05	6.06	0.494	0.16884	.	0.427868	0.28284	N	0.015908	T	0.09335	0.0230	N	0.16478	0.41	0.28037	N	0.933906	B	0.09022	0.002	B	0.09377	0.004	T	0.13150	-1.0520	10	0.35671	T	0.21	.	2.8115	0.05443	0.6015:0.1186:0.1653:0.1145	.	3	Q13489	BIRC3_HUMAN	V	3	ENSP00000263464:I3V;ENSP00000432907:I3V	ENSP00000263464:I3V	I	+	1	0	BIRC3	101700457	0.630000	0.27155	0.936000	0.37596	0.468000	0.32798	0.505000	0.22642	0.514000	0.28300	0.533000	0.62120	ATA		0.373	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		9	20	0	0	0	1	0	9	20				
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs200299226	byFrequency	TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame|ERCC8_ENST00000543101.1_5'Flank|ERCC8_ENST00000265038.5_5'Flank|ERCC8_ENST00000426742.2_5'Flank	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2						negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)	mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632																																						ENST00000296597.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6								NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							29.0	29.0	29.0					5																	60241050		2203	4300	6503			91942					membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:60241050G>A	AB183433	CCDS3979.1	5q12.1	2012-10-12	2012-05-08	2008-02-15	ENSG00000164182	ENSG00000164182		"""Mitochondrial respiratory chain complex assembly factors"""	28086	protein-coding gene	gene with protein product	"""Myc-induced mitochondrial protein"""	609653	"""NDUFA12-like"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2"""	NDUFA12L		15774466, 16200211, 17383918	Standard	NM_174889		Approved	B17.2L, MMTN, mimitin	uc003jsp.4	Q8N183	OTTHUMG00000131221	ENST00000296597.5:c.-33G>A	5.37:g.60241050G>A						NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame		NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN			0	95	+		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)						A8K5I1	Translation_Start_Site	SNP	ENST00000296597.5	37		CCDS3979.1																																																																																				0.632	NDUFAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253965.1	NM_174889		3	5	0	0	0	1	0	3	5				
TSGA10	80705	broad.mit.edu	37	2	99695278	99695278	+	Splice_Site	SNP	T	T	A			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr2:99695278T>A	ENST00000393483.3	-	12	1572		c.e12-2		TSGA10_ENST00000410001.1_Splice_Site|TSGA10_ENST00000542655.1_Splice_Site|TSGA10_ENST00000355053.4_Splice_Site|TSGA10_ENST00000539964.1_Splice_Site|TSGA10_ENST00000478090.1_Intron	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10						cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TAAAGTTATCTATGTATGCAA	0.323																																						ENST00000393483.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.e12-2		testis specific, 10							71.0	69.0	70.0					2																	99695278		2203	4300	6503	SO:0001630	splice_region_variant	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99695278T>A	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.728-2A>T	2.37:g.99695278T>A						TSGA10_ENST00000539964.1_Splice_Site|TSGA10_ENST00000355053.4_Splice_Site|TSGA10_ENST00000478090.1_Intron|TSGA10_ENST00000410001.1_Splice_Site|TSGA10_ENST00000542655.1_Splice_Site		NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN			12	1572	-								B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Splice_Site	SNP	ENST00000393483.3	37		CCDS2037.1	.	.	.	.	.	.	.	.	.	.	T	9.148	1.015664	0.19355	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2807	0.49192	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TSGA10	99061710	1.000000	0.71417	1.000000	0.80357	0.150000	0.21749	4.597000	0.61062	2.159000	0.67721	0.383000	0.25322	.		0.323	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911	Intron	6	29	0	0	0	1	0	6	29				
EML2	24139	broad.mit.edu	37	19	46120071	46120071	+	Missense_Mutation	SNP	T	T	C	rs371846195		TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr19:46120071T>C	ENST00000245925.3	-	14	1413	c.1363A>G	c.(1363-1365)Atc>Gtc	p.I455V	EML2_ENST00000587152.1_Missense_Mutation_p.I656V|EML2_ENST00000536630.1_Missense_Mutation_p.I602V|EML2_ENST00000589876.1_Missense_Mutation_p.I455V	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	455	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TCTGTGTGGATAGCCACCAGG	0.632																																						ENST00000536630.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(1804-1806)Atc>Gtc		echinoderm microtubule associated protein like 2			VAL/ILE,VAL/ILE,VAL/ILE	0,4406		0,0,2203	98.0	77.0	84.0		1363,1804,1966	4.7	1.0	19		84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	EML2	NM_012155.2,NM_001193269.1,NM_001193268.1	29,29,29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign,benign	455/650,602/797,656/851	46120071	1,13005	2203	4300	6503	SO:0001583	missense	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46120071T>C	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1363A>G	19.37:g.46120071T>C	ENSP00000245925:p.Ile455Val					EML2_ENST00000589876.1_Missense_Mutation_p.I455V|EML2_ENST00000587152.1_Missense_Mutation_p.I656V|EML2_ENST00000245925.3_Missense_Mutation_p.I455V	p.I602V	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	17	1942	-		Ovarian(192;0.179)|all_neural(266;0.224)	455					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.1804A>G	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	T	6.264	0.416757	0.11870	0.0	1.16E-4	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055	T;T	0.58652	0.32;0.32	4.73	4.73	0.59995	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);WD40-repeat-containing domain (1);	0.168257	0.52532	D	0.000075	T	0.27933	0.0688	N	0.03154	-0.405	0.27658	N	0.947167	B;B;B	0.31256	0.005;0.316;0.005	B;B;B	0.28385	0.01;0.089;0.015	T	0.12400	-1.0549	10	0.20046	T	0.44	-30.049	6.9427	0.24502	0.0:0.1005:0.0:0.8995	.	621;602;455	B7Z3Q9;B7Z3I2;O95834	.;.;EMAL2_HUMAN	V	602;455;613	ENSP00000442365:I602V;ENSP00000245925:I455V	ENSP00000245925:I455V	I	-	1	0	EML2	50811911	0.980000	0.34600	1.000000	0.80357	0.984000	0.73092	1.401000	0.34589	1.994000	0.58287	0.379000	0.24179	ATC		0.632	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		3	17	0	0	0	1	0	3	17				
IGHG4	3503	broad.mit.edu	37	14	106091309	106091309	+	RNA	SNP	G	G	A	rs587601903		TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr14:106091309G>A	ENST00000390543.2	-	0	584							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										ACTCCTTGCCGTTCAGCCAGT	0.592													N|||	1	0.000199681	0.0	0.0014	5008	,	,		27604	0.0		0.0	False		,,,				2504	0.0					ENST00000390543.2																			0																				268.0	333.0	311.0					14																	106091309		2189	4283	6472			3503							g.chr14:106091309G>A	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106091309G>A														0	584	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.592	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		5	198	0	0	0	1	0	5	198				
DPY19L2P2	349152	broad.mit.edu	37	7	102912314	102912314	+	RNA	SNP	T	T	C			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr7:102912314T>C	ENST00000312132.4	-	0	2265							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										AATAATAAAGTCCCTTTTTTA	0.269																																						ENST00000312132.4																			0																																																			349152							g.chr7:102912314T>C	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102912314T>C														0	2265	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.269	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		5	27	0	0	0	1	0	5	27				
MRPS2	51116	broad.mit.edu	37	9	138393756	138393756	+	Missense_Mutation	SNP	T	T	G	rs148092515		TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr9:138393756T>G	ENST00000371785.1	+	4	445	c.236T>G	c.(235-237)tTt>tGt	p.F79C	MRPS2_ENST00000241600.5_Missense_Mutation_p.F79C|C9orf116_ENST00000371789.3_5'Flank|C9orf116_ENST00000429260.2_5'Flank|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR|C9orf116_ENST00000371791.1_5'Flank			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	79					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		AAGGAACTGTTTTCCGTGAGA	0.567																																						ENST00000371785.1																			0				large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6						c.(235-237)tTt>tGt		mitochondrial ribosomal protein S2							112.0	103.0	106.0					9																	138393756		2203	4300	6503	SO:0001583	missense	51116				translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome	g.chr9:138393756T>G	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.236T>G	9.37:g.138393756T>G	ENSP00000360850:p.Phe79Cys					MRPS2_ENST00000241600.5_Missense_Mutation_p.F79C|MRPS2_ENST00000488610.1_3'UTR	p.F79C			Q9Y399	RT02_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)	4	445	+			79					Q5T899|Q9BSQ4	Missense_Mutation	SNP	ENST00000371785.1	37	c.236T>G	CCDS6990.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.359438	0.82353	.	.	ENSG00000122140	ENST00000371785;ENST00000241600;ENST00000453385	T;T;T	0.35973	1.71;1.71;1.28	4.91	4.91	0.64330	.	0.102387	0.64402	D	0.000002	T	0.59838	0.2223	M	0.75085	2.285	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.65092	-0.6252	10	0.87932	D	0	-8.6129	13.7366	0.62821	0.0:0.0:0.0:1.0	.	79	Q9Y399	RT02_HUMAN	C	79;79;93	ENSP00000360850:F79C;ENSP00000241600:F79C;ENSP00000400082:F93C	ENSP00000241600:F79C	F	+	2	0	MRPS2	137533577	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	7.213000	0.77950	1.822000	0.53115	0.533000	0.62120	TTT		0.567	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1			12	69	0	0	0	1	0	12	69				
ANPEP	290	broad.mit.edu	37	15	90335438	90335438	+	Silent	SNP	C	C	T			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr15:90335438C>T	ENST00000300060.6	-	18	2794	c.2481G>A	c.(2479-2481)aaG>aaA	p.K827K		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	827	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CTGCCCGGAGCTTGTCAGCCT	0.627																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(2479-2481)aaG>aaA		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						102.0	95.0	98.0					15																	90335438		2200	4299	6499	SO:0001819	synonymous_variant	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90335438C>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2481G>A	15.37:g.90335438C>T							p.K827K	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		18	2794	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		827			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	c.2481G>A	CCDS10356.1																																																																																				0.627	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			14	52	0	0	0	1	0	14	52				
IFITM3	10410	broad.mit.edu	37	11	320606	320606	+	Missense_Mutation	SNP	G	G	T	rs199749095	byFrequency	TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr11:320606G>T	ENST00000399808.4	-	1	444	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000508004.2_RNA|RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.14_ENST00000602809.1_lincRNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602429.1_RNA|RP11-326C3.11_ENST00000602756.1_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	70	Interaction with SPP1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.P70T(3)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCAGCAGGGGTTCATGAAG	0.632																																						ENST00000399808.4																			3	Substitution - Missense(3)	p.P70T(3)	endometrium(2)|central_nervous_system(1)	central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18						c.(208-210)Ccc>Acc		interferon induced transmembrane protein 3							89.0	95.0	93.0					11																	320606		2101	4210	6311	SO:0001583	missense	10410				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		g.chr11:320606G>T	X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.208C>A	11.37:g.320606G>T	ENSP00000382707:p.Pro70Thr					RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T	p.P70T	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	444	-		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	70			Interaction with SPP1.		Q53Y76|Q96HK8|Q96J15	Missense_Mutation	SNP	ENST00000399808.4	37	c.208C>A	CCDS41585.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|G	0.076|0.076	-1.193620|-1.193620	0.01594|0.01594	.|.	.|.	ENSG00000142089|ENSG00000142089	ENST00000270031|ENST00000399808;ENST00000526811	.|T;T	.|0.78595	.|-0.94;-1.19	4.65|4.65	-9.3|-9.3	0.00649|0.00649	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54447	.|0.1859	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	.|T	.|0.32375	.|-0.9909	.|9	.|0.22109	.|T	.|0.4	.|.	2.5632|2.5632	0.04777|0.04777	0.1587:0.0951:0.2785:0.4676|0.1587:0.0951:0.2785:0.4676	.|.	.|70	.|Q01628	.|IFM3_HUMAN	.|T	-1|70;49	.|ENSP00000382707:P70T;ENSP00000432108:P49T	.|ENSP00000382707:P70T	.|P	-|-	.|1	.|0	IFITM3|IFITM3	310606|310606	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	-1.460000|-1.460000	0.02368|0.02368	-3.272000|-3.272000	0.00199|0.00199	-2.532000|-2.532000	0.00182|0.00182	.|CCC		0.632	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034		7	52	1	0	3.86212e-05	1	3.9953e-05	7	52				
ZNF569	148266	broad.mit.edu	37	19	37904427	37904427	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr19:37904427C>T	ENST00000316950.6	-	6	1690	c.1133G>A	c.(1132-1134)gGt>gAt	p.G378D	ZNF569_ENST00000392149.2_Missense_Mutation_p.G378D|ZNF569_ENST00000392150.2_Missense_Mutation_p.G219D	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGGTTTTTCACCTGTATGAAT	0.368																																						ENST00000316950.6																			0				breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1132-1134)gGt>gAt		zinc finger protein 569							74.0	73.0	73.0					19																	37904427		2203	4300	6503	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37904427C>T	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1133G>A	19.37:g.37904427C>T	ENSP00000325018:p.Gly378Asp					ZNF569_ENST00000392150.2_Missense_Mutation_p.G219D|ZNF569_ENST00000392149.2_Missense_Mutation_p.G378D	p.G378D	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1690	-			378					A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.1133G>A	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008006	0.75046	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.26660	1.72;1.72	4.12	4.12	0.48240	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38492	N	0.001666	T	0.45397	0.1340	L	0.52364	1.645	0.51767	D	0.999932	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.46884	-0.9159	10	0.87932	D	0	.	15.6322	0.76920	0.0:1.0:0.0:0.0	.	219;378	Q17RR6;Q5MCW4	.;ZN569_HUMAN	D	378;34;219	ENSP00000325018:G378D;ENSP00000375993:G219D	ENSP00000325018:G378D	G	-	2	0	ZNF569	42596267	0.990000	0.36364	0.999000	0.59377	0.998000	0.95712	3.740000	0.55082	2.285000	0.76669	0.655000	0.94253	GGT		0.368	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		25	61	0	0	0	1	0	25	61				
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - coding silent(2)	p.V49V(2)	lung(1)|kidney(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(145-147)gtG>gtC		major histocompatibility complex, class I, A																																				SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910607G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.147G>C	6.37:g.29910607G>C		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V	p.V49V			P30443	1A01_HUMAN			4	488	+			49			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.147G>C	CCDS34373.1																																																																																				0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		4	16	0	0	0	1	0	4	16				
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		2	Deletion - Frameshift(2)	p.P6fs*27(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(16-18)cfs		notch 2																																				SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612003_120612004delGG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs						p.P6fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	236_237	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	6					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.17_18delCC	CCDS908.1																																																																																				0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		6	10						6	10	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	64	0	0	0	1	0	4	64				
GGT6	124975	broad.mit.edu	37	17	4461978	4461978	+	Frame_Shift_Del	DEL	C	C	-	rs373876908		TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr17:4461978delC	ENST00000574154.1	-	4	1110	c.814delG	c.(814-816)gatfs	p.D272fs	GGT6_ENST00000381550.3_Frame_Shift_Del_p.D278fs|GGT6_ENST00000573591.1_Frame_Shift_Del_p.D124fs|GGT6_ENST00000301395.3_Frame_Shift_Del_p.D240fs			Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	272					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AGTAGAGCATCCCCAGCAAGG	0.667																																						ENST00000301395.3																			0				endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(718-720)atfs		gamma-glutamyltransferase 6							30.0	30.0	30.0					17																	4461978		2202	4299	6501	SO:0001589	frameshift_variant	124975				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr17:4461978delC	AK074646	CCDS11047.1, CCDS45582.1, CCDS73942.1	17p13.2	2014-08-12	2008-03-10		ENSG00000167741	ENSG00000167741		"""Gamma-glutamyltransferases"""	26891	protein-coding gene	gene with protein product		612341	"""gamma-glutamyltransferase 6 homolog (rat)"""			18357469	Standard	NM_001122890		Approved	FLJ90165	uc002fyd.4	Q6P531	OTTHUMG00000177827	ENST00000574154.1:c.814delG	17.37:g.4461978delC	ENSP00000458307:p.Asp272fs					GGT6_ENST00000574154.1_Frame_Shift_Del_p.D272fs|GGT6_ENST00000381550.3_Frame_Shift_Del_p.D278fs|GGT6_ENST00000573591.1_Frame_Shift_Del_p.D124fs	p.D240fs	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN			3	777	-			272					B4DUH4|Q8NCM0	Frame_Shift_Del	DEL	ENST00000574154.1	37	c.718delG	CCDS45582.1																																																																																				0.667	GGT6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439122.1	NM_153338		2	4						2	4	---	---	---	---
