#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
VTA1	51534	broad.mit.edu	37	6	142468531	142468531	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr6:142468531A>G	ENST00000367630.4	+	1	165	c.107A>G	c.(106-108)tAt>tGt	p.Y36C	VTA1_ENST00000452973.2_Missense_Mutation_p.I10V|VTA1_ENST00000367621.1_Missense_Mutation_p.I10V	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	36	Interaction with CHMP5.|Interaction with IST1.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		GTGGTGGCTTATTACTGTGAG	0.607											OREG0017699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367630.4																			0				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(106-108)tAt>tGt		vesicle (multivesicular body) trafficking 1							76.0	66.0	69.0					6																	142468531		2203	4300	6503	SO:0001583	missense	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142468531A>G	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.107A>G	6.37:g.142468531A>G	ENSP00000356602:p.Tyr36Cys		OREG0017699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1671	VTA1_ENST00000452973.2_Missense_Mutation_p.I10V|VTA1_ENST00000367621.1_Missense_Mutation_p.I10V	p.Y36C	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	1	165	+	Breast(32;0.155)		36			Interaction with CHMP5.|Interaction with IST1.		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	c.107A>G	CCDS5197.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.9|21.9	4.209512|4.209512	0.79240|0.79240	.|.	.|.	ENSG00000009844|ENSG00000009844	ENST00000367621;ENST00000452973|ENST00000367630;ENST00000427932	T|T	0.41065|0.80824	1.01|-1.42	5.58|5.58	5.58|5.58	0.84498|0.84498	.|Vacuolar protein sorting-associate Vta1, N-terminal (1);	.|0.193511	.|0.46758	.|D	.|0.000266	D|D	0.89760|0.89760	0.6808|0.6808	M|M	0.94063|0.94063	3.49|3.49	0.19300|0.19300	N|N	0.99998|0.99998	B|D	0.11235|0.89917	0.004|1.0	B|D	0.18263|0.91635	0.021|0.999	D|D	0.85718|0.85718	0.1323|0.1323	9|10	0.62326|0.87932	D|D	0.03|0	-14.3032|-14.3032	13.2713|13.2713	0.60161|0.60161	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	10|36	E7ETQ7|Q9NP79	.|VTA1_HUMAN	V|C	10|36;37	ENSP00000356593:I10V|ENSP00000356602:Y36C	ENSP00000356593:I10V|ENSP00000356602:Y36C	I|Y	+|+	1|2	0|0	VTA1|VTA1	142510224|142510224	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.192000|6.192000	0.72069|0.72069	2.127000|2.127000	0.65507|0.65507	0.482000|0.482000	0.46254|0.46254	ATT|TAT		0.607	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		4	15	0	0	0	1	0	4	15				
OR10G2	26534	broad.mit.edu	37	14	22102491	22102491	+	Missense_Mutation	SNP	G	G	A	rs373027971		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr14:22102491G>A	ENST00000542433.1	-	1	605	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TAGGGCAGGCGGAAGGTCAAG	0.552																																						ENST00000542433.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(508-510)Cgc>Tgc		olfactory receptor, family 10, subfamily G, member 2		G	CYS/ARG	0,4406		0,0,2203	85.0	87.0	86.0		508	2.7	1.0	14		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR10G2	NM_001005466.1	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	170/311	22102491	1,13005	2203	4300	6503	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102491G>A		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.508C>T	14.37:g.22102491G>A	ENSP00000445383:p.Arg170Cys						p.R170C	NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	605	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	170					B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.508C>T	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	G	8.631	0.893783	0.17613	0.0	1.16E-4	ENSG00000255582	ENST00000542433	T	0.00188	8.59	3.64	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.314820	0.22763	N	0.055921	T	0.00178	0.0005	L	0.58969	1.84	0.28484	N	0.9148	B	0.15473	0.013	B	0.14023	0.01	T	0.23297	-1.0192	10	0.56958	D	0.05	-0.4061	6.4309	0.21796	0.0:0.2022:0.5899:0.2079	.	170	Q8NGC3	O10G2_HUMAN	C	170	ENSP00000445383:R170C	ENSP00000445383:R170C	R	-	1	0	OR10G2	21172331	0.000000	0.05858	0.994000	0.49952	0.768000	0.43524	0.193000	0.17116	0.708000	0.31955	0.455000	0.32223	CGC		0.552	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			8	71	0	0	0	1	0	8	71				
KIAA1217	56243	broad.mit.edu	37	10	24762403	24762403	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr10:24762403A>T	ENST00000376454.3	+	6	1123	c.1093A>T	c.(1093-1095)Agc>Tgc	p.S365C	KIAA1217_ENST00000376452.3_Missense_Mutation_p.S365C|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S285C|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S83C|KIAA1217_ENST00000307544.6_Missense_Mutation_p.S83C|KIAA1217_ENST00000430453.2_Missense_Mutation_p.S286C|KIAA1217_ENST00000376451.2_Missense_Mutation_p.S83C|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S365C|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S83C	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	365					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCCAAGCCCAAGCGCCATTTT	0.502																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(247-249)Agc>Tgc		KIAA1217							97.0	94.0	95.0					10																	24762403		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24762403A>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1093A>T	10.37:g.24762403A>T	ENSP00000365637:p.Ser365Cys					KIAA1217_ENST00000307544.6_Missense_Mutation_p.S83C|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S365C|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S365C|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S285C|KIAA1217_ENST00000430453.2_Missense_Mutation_p.S286C|KIAA1217_ENST00000376454.3_Missense_Mutation_p.S365C|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S83C|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S83C	p.S83C			Q5T5P2	SKT_HUMAN			2	507	+			365					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.247A>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.363717	0.82353	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.74	5.74	0.90152	.	0.071094	0.85682	D	0.000000	T	0.81777	0.4894	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;0.999;0.999;0.999;0.999	D	0.84044	0.0366	10	0.87932	D	0	.	16.0204	0.80478	1.0:0.0:0.0:0.0	.	365;365;83;83;83;83;365;365	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	C	285;365;365;83;365;365;215;286;83;83;83;83;83	ENSP00000365645:S285C;ENSP00000365639:S365C;ENSP00000392625:S365C;ENSP00000365637:S365C;ENSP00000365635:S365C;ENSP00000404798:S215C;ENSP00000389680:S286C;ENSP00000302343:S83C;ENSP00000379722:S83C;ENSP00000365634:S83C;ENSP00000379723:S83C	ENSP00000302343:S83C	S	+	1	0	KIAA1217	24802409	1.000000	0.71417	0.942000	0.38095	0.978000	0.69477	8.730000	0.91510	2.198000	0.70561	0.528000	0.53228	AGC		0.502	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		37	91	0	0	0	1	0	37	91				
SEL1L	6400	broad.mit.edu	37	14	81994065	81994065	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr14:81994065C>T	ENST00000336735.4	-	2	204	c.88G>A	c.(88-90)Gat>Aat	p.D30N	SEL1L_ENST00000555824.1_Missense_Mutation_p.D30N	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	30	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		AAGGATTCATCCTGGCTGCCT	0.308																																						ENST00000336735.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28						c.(88-90)Gat>Aat		sel-1 suppressor of lin-12-like (C. elegans)							100.0	93.0	95.0					14																	81994065		2203	4298	6501	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81994065C>T		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.88G>A	14.37:g.81994065C>T	ENSP00000337053:p.Asp30Asn					SEL1L_ENST00000555824.1_Missense_Mutation_p.D30N	p.D30N	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	2	204	-			30			Interaction with ERLEC1, OS9 and SYVN1.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.88G>A	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338155	0.60963	.	.	ENSG00000071537	ENST00000336735;ENST00000555824;ENST00000557372	T;T;T	0.56103	1.36;0.92;0.48	4.82	4.82	0.62117	.	0.319446	0.28821	N	0.014036	T	0.45776	0.1359	L	0.27053	0.805	0.43647	D	0.996054	P;P	0.40970	0.734;0.592	B;B	0.42959	0.135;0.403	T	0.51553	-0.8691	10	0.62326	D	0.03	-22.5187	15.1768	0.72920	0.0:1.0:0.0:0.0	.	30;30	Q9UBV2;Q9UBV2-2	SE1L1_HUMAN;.	N	30	ENSP00000337053:D30N;ENSP00000450709:D30N;ENSP00000451144:D30N	ENSP00000337053:D30N	D	-	1	0	SEL1L	81063818	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.075000	0.57584	2.343000	0.79666	0.585000	0.79938	GAT		0.308	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		4	21	0	0	0	1	0	4	21				
SNHG14	104472715	broad.mit.edu	37	15	25492314	25492314	+	RNA	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr15:25492314C>T	ENST00000453082.2	+	0	2775				SNORD115-43_ENST00000365503.1_RNA|SNORD115-41_ENST00000363608.1_RNA|SNORD115-42_ENST00000364273.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATGGTGAGACCGGAGGAAGAC	0.582																																						ENST00000453082.2																			0																																																			104472715							g.chr15:25492314C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25492314C>T								NR_003343.1						0	2775	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.582	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			7	7	0	0	0	1	0	7	7				
ZNF746	155061	broad.mit.edu	37	7	149171709	149171709	+	Silent	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr7:149171709G>A	ENST00000340622.3	-	7	1981	c.1701C>T	c.(1699-1701)acC>acT	p.T567T	ZNF746_ENST00000458143.2_Silent_p.T568T			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	567					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGACGGTGCAGGTGAAGGGCC	0.672																																						ENST00000340622.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1699-1701)acC>acT		zinc finger protein 746							53.0	39.0	44.0					7																	149171709		2203	4300	6503	SO:0001819	synonymous_variant	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149171709G>A	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1701C>T	7.37:g.149171709G>A						ZNF746_ENST00000458143.2_Silent_p.T568T	p.T567T			Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		7	1981	-	Melanoma(164;0.165)		567					A8K6Z9|Q6ZRF9	Silent	SNP	ENST00000340622.3	37	c.1701C>T	CCDS5897.1																																																																																				0.672	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		4	20	0	0	0	1	0	4	20				
TIA1	7072	broad.mit.edu	37	2	70475554	70475554	+	Silent	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr2:70475554G>A	ENST00000433529.2	-	1	219	c.9C>T	c.(7-9)gaC>gaT	p.D3D	TIA1_ENST00000415783.2_Silent_p.D3D|C2orf42_ENST00000470096.1_5'UTR|TIA1_ENST00000416149.2_Silent_p.D3D|TIA1_ENST00000445587.1_Silent_p.D3D|TIA1_ENST00000282574.4_Silent_p.D3D	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	3					apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TGGGCATCTCGTCCTCCATGG	0.642																																						ENST00000433529.2																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						c.(7-9)gaC>gaT		TIA1 cytotoxic granule-associated RNA binding protein							42.0	39.0	40.0					2																	70475554		2203	4300	6503	SO:0001819	synonymous_variant	7072				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding	g.chr2:70475554G>A		CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"""RNA binding motif (RRM) containing"""	11802	protein-coding gene	gene with protein product	"""T-cell-restricted intracellular antigen-1"", ""nucleolysin TIA-1 isoform p40"""	603518	"""TIA1 cytotoxic granule-associated RNA-binding protein"""			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.9C>T	2.37:g.70475554G>A						C2orf42_ENST00000470096.1_5'UTR|TIA1_ENST00000445587.1_Silent_p.D3D|TIA1_ENST00000416149.2_Silent_p.D3D|TIA1_ENST00000415783.2_Silent_p.D3D|TIA1_ENST00000282574.4_Silent_p.D3D	p.D3D	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN			1	219	-			3					Q53SS9	Silent	SNP	ENST00000433529.2	37	c.9C>T	CCDS1901.1																																																																																				0.642	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2	NM_022037		3	43	0	0	0	1	0	3	43				
KRT71	112802	broad.mit.edu	37	12	52943098	52943098	+	Silent	SNP	G	G	A	rs147275737		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:52943098G>A	ENST00000267119.5	-	3	765	c.696C>T	c.(694-696)aaC>aaT	p.N232N		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	232	Coil 1B.|Rod.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCACAAACTCGTTCTCTGCTG	0.567																																						ENST00000267119.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(694-696)aaC>aaT		keratin 71		G		1,4405	4.2+/-10.8	0,1,2202	197.0	160.0	172.0		696	-10.1	0.1	12	dbSNP_134	172	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	KRT71	NM_033448.2		0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384		232/524	52943098	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	112802						structural molecule activity	g.chr12:52943098G>A	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.696C>T	12.37:g.52943098G>A							p.N232N	NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.194)	3	765	-			232			Coil 1B.|Rod.		B3KVC1|Q3SY85|Q96DU2	Silent	SNP	ENST00000267119.5	37	c.696C>T	CCDS8831.1																																																																																				0.567	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448		4	137	0	0	0	1	0	4	137				
UNC13B	10497	broad.mit.edu	37	9	35310528	35310528	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr9:35310528G>A	ENST00000378495.3	+	9	1048	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	UNC13B_ENST00000396787.1_Missense_Mutation_p.E288K|UNC13B_ENST00000378496.4_Missense_Mutation_p.E276K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	276					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TCAGCTAAGTGAACTAGACCA	0.493																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(826-828)Gaa>Aaa		unc-13 homolog B (C. elegans)							117.0	114.0	115.0					9																	35310528		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35310528G>A	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.826G>A	9.37:g.35310528G>A	ENSP00000367756:p.Glu276Lys					UNC13B_ENST00000378496.4_Missense_Mutation_p.E276K|UNC13B_ENST00000396787.1_Missense_Mutation_p.E288K	p.E276K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		9	1048	+	all_epithelial(49;0.212)		276					Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.826G>A	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583188	0.86748	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	D;D;D	0.85258	-1.89;-1.77;-1.96	5.81	5.81	0.92471	.	0.250953	0.39475	N	0.001350	D	0.86493	0.5946	L	0.50333	1.59	0.54753	D	0.999986	P;P;D	0.58268	0.9;0.827;0.982	B;B;P	0.49799	0.438;0.442;0.622	D	0.85166	0.0995	10	0.37606	T	0.19	-9.9937	19.0707	0.93134	0.0:0.0:1.0:0.0	.	276;276;276	Q2NKJ5;F8W8M9;O14795	.;.;UN13B_HUMAN	K	288;276;276	ENSP00000380006:E288K;ENSP00000367756:E276K;ENSP00000367757:E276K	ENSP00000367756:E276K	E	+	1	0	UNC13B	35300528	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.490000	0.90464	2.746000	0.94184	0.655000	0.94253	GAA		0.493	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		11	100	0	0	0	1	0	11	100				
SNTG1	54212	broad.mit.edu	37	8	51569523	51569523	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr8:51569523G>A	ENST00000522124.1	+	14	1565	c.904G>A	c.(904-906)Gtg>Atg	p.V302M	SNTG1_ENST00000518864.1_Missense_Mutation_p.V302M|SNTG1_ENST00000517473.1_Missense_Mutation_p.V302M|SNTG1_ENST00000276467.5_Missense_Mutation_p.V302M	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	302	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CCAGGACAGAGTGTACTCCCC	0.468																																						ENST00000522124.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66						c.(904-906)Gtg>Atg		syntrophin, gamma 1							105.0	99.0	101.0					8																	51569523		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51569523G>A	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.904G>A	8.37:g.51569523G>A	ENSP00000429842:p.Val302Met					SNTG1_ENST00000276467.5_Missense_Mutation_p.V302M|SNTG1_ENST00000518864.1_Missense_Mutation_p.V302M|SNTG1_ENST00000517473.1_Missense_Mutation_p.V302M	p.V302M	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN			14	1565	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	302			PH.		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.904G>A	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	4.866	0.161011	0.09287	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.01	-3.56	0.04626	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.281705	0.43416	N	0.000572	T	0.11153	0.0272	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.13407	0.009;0.004	T	0.07271	-1.0781	10	0.34782	T	0.22	0.4458	2.2407	0.04019	0.2399:0.4369:0.19:0.1332	.	302;302	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	M	302	ENSP00000429276:V302M;ENSP00000429842:V302M;ENSP00000431123:V302M;ENSP00000276467:V302M	ENSP00000276467:V302M	V	+	1	0	SNTG1	51732076	0.985000	0.35326	0.000000	0.03702	0.014000	0.08584	2.546000	0.45778	-0.558000	0.06118	0.591000	0.81541	GTG		0.468	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			11	59	0	0	0	1	0	11	59				
ECI2	10455	broad.mit.edu	37	6	4125485	4125485	+	Splice_Site	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr6:4125485C>T	ENST00000380118.3	-	7	830	c.794G>A	c.(793-795)aGg>aAg	p.R265K	C6orf201_ENST00000430835.2_3'UTR|ECI2_ENST00000361538.2_Splice_Site_p.R235K|ECI2_ENST00000413766.2_Splice_Site_p.R98K|ECI2_ENST00000465828.1_Splice_Site_p.R235K|ECI2_ENST00000380125.2_Splice_Site_p.R235K|C6orf201_ENST00000333388.5_Intron|C6orf201_ENST00000380175.4_Intron			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	265	ECH-like.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						CTGACTTACCCTGTCAGATGC	0.512																																						ENST00000465828.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						c.e7+1		enoyl-CoA delta isomerase 2							105.0	98.0	100.0					6																	4125485		2203	4300	6503	SO:0001630	splice_region_variant	10455				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding	g.chr6:4125485C>T	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.795+1G>A	6.37:g.4125485C>T						C6orf201_ENST00000333388.5_Intron|C6orf201_ENST00000430835.2_3'UTR|ECI2_ENST00000380125.2_Splice_Site_p.R235_splice|ECI2_ENST00000361538.2_Splice_Site_p.R235_splice|C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000413766.2_Splice_Site_p.R98_splice|ECI2_ENST00000380118.3_Splice_Site_p.R265_splice	p.R235_splice			O75521	ECI2_HUMAN			7	989	-			265			ECH-like.		Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Splice_Site	SNP	ENST00000380118.3	37	c.705_splice	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	C	10.25	1.299061	0.23650	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000413766;ENST00000361538;ENST00000465828	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.36	3.44	0.39384	Crotonase, core (1);	0.129729	0.64402	N	0.000002	T	0.09158	0.0226	N	0.17379	0.485	0.44323	D	0.997204	B	0.02656	0.0	B	0.11329	0.006	T	0.14476	-1.0471	10	0.09338	T	0.73	.	9.3152	0.37930	0.0:0.8064:0.0:0.1936	.	265	O75521	ECI2_HUMAN	K	265;235;98;235;235	ENSP00000369461:R265K;ENSP00000369468:R235K;ENSP00000406969:R98K;ENSP00000354737:R235K;ENSP00000420309:R235K	ENSP00000354737:R235K	R	-	2	0	ECI2	4070484	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	1.080000	0.30779	0.625000	0.30304	0.655000	0.94253	AGG		0.512	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	NM_006117	Missense_Mutation	32	57	0	0	0	1	0	32	57				
NFATC2	4773	broad.mit.edu	37	20	50051779	50051779	+	Missense_Mutation	SNP	C	C	T	rs561066890	byFrequency	TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr20:50051779C>T	ENST00000396009.3	-	8	2197	c.1978G>A	c.(1978-1980)Gtc>Atc	p.V660I	NFATC2_ENST00000609943.1_Missense_Mutation_p.V640I|NFATC2_ENST00000609507.1_Missense_Mutation_p.V441I|NFATC2_ENST00000414705.1_Missense_Mutation_p.V640I|NFATC2_ENST00000610033.1_Missense_Mutation_p.V441I|NFATC2_ENST00000371564.3_Missense_Mutation_p.V660I	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	660					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCATTGATGACGTAGAAGTTC	0.428													C|||	3	0.000599042	0.0015	0.0	5008	,	,		21708	0.001		0.0	False		,,,				2504	0.0					ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(1978-1980)Gtc>Atc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							283.0	261.0	268.0					20																	50051779		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50051779C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1978G>A	20.37:g.50051779C>T	ENSP00000379330:p.Val660Ile					NFATC2_ENST00000396009.3_Missense_Mutation_p.V660I|NFATC2_ENST00000414705.1_Missense_Mutation_p.V640I	p.V660I	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			8	2197	-	Hepatocellular(150;0.248)		660					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.1978G>A	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	32	5.151148	0.94645	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.79141	-1.24;-1.24;-1.24	5.06	5.06	0.68205	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85331	0.5672	L	0.46947	1.48	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;0.998;0.999;1.0	D;D;D;D	0.83275	0.994;0.98;0.993;0.996	D	0.86580	0.1853	10	0.72032	D	0.01	-35.6224	18.7988	0.92007	0.0:1.0:0.0:0.0	.	640;640;660;660	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	I	660;660;640	ENSP00000360619:V660I;ENSP00000379330:V660I;ENSP00000396471:V640I	ENSP00000360619:V660I	V	-	1	0	NFATC2	49485186	1.000000	0.71417	0.992000	0.48379	0.934000	0.57294	7.445000	0.80570	2.511000	0.84671	0.655000	0.94253	GTC		0.428	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		14	121	0	0	0	1	0	14	121				
DGCR2	9993	broad.mit.edu	37	22	19076977	19076977	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr22:19076977C>T	ENST00000263196.7	-	2	353	c.106G>A	c.(106-108)Gcg>Acg	p.A36T	DGCR2_ENST00000537045.1_Intron|DGCR2_ENST00000545799.1_Missense_Mutation_p.A36T	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	36	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CTGCGACACGCAAACTGCCCA	0.622																																						ENST00000545799.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18						c.(106-108)Gcg>Acg		DiGeorge syndrome critical region gene 2							69.0	55.0	60.0					22																	19076977		2203	4300	6503	SO:0001583	missense	9993				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	g.chr22:19076977C>T	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.106G>A	22.37:g.19076977C>T	ENSP00000263196:p.Ala36Thr					DGCR2_ENST00000263196.7_Missense_Mutation_p.A36T|DGCR2_ENST00000537045.1_Intron	p.A36T			P98153	IDD_HUMAN			2	306	-	Colorectal(54;0.0993)		36			LDL-receptor class A.		A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	ENST00000263196.7	37	c.106G>A	CCDS33598.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006308	0.93287	.	.	ENSG00000070413	ENST00000263196;ENST00000545799;ENST00000447928	D;D	0.95377	-3.69;-3.69	4.82	4.82	0.62117	.	0.052221	0.85682	D	0.000000	D	0.93690	0.7984	N	0.05554	-0.025	0.80722	D	1	D	0.56746	0.977	P	0.61722	0.893	D	0.94208	0.7456	10	0.40728	T	0.16	.	16.8432	0.85973	0.0:1.0:0.0:0.0	.	36	P98153	IDD_HUMAN	T	36	ENSP00000263196:A36T;ENSP00000445069:A36T	ENSP00000263196:A36T	A	-	1	0	DGCR2	17456977	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	5.439000	0.66556	2.510000	0.84645	0.655000	0.94253	GCG		0.622	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137		9	42	0	0	0	1	0	9	42				
TLE3	7090	broad.mit.edu	37	15	70368499	70368499	+	Splice_Site	SNP	T	T	C			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr15:70368499T>C	ENST00000558939.1	-	5	1612		c.e5-2		TLE3_ENST00000317509.8_Splice_Site|TLE3_ENST00000558201.1_Splice_Site|TLE3_ENST00000560589.1_Splice_Site|TLE3_ENST00000442299.2_Splice_Site|TLE3_ENST00000557907.1_Splice_Site|TLE3_ENST00000557997.1_Splice_Site|TLE3_ENST00000539550.1_Splice_Site|TLE3_ENST00000440567.3_Splice_Site|TLE3_ENST00000558379.1_Splice_Site|TLE3_ENST00000559048.1_Splice_Site|TLE3_ENST00000559929.1_Splice_Site|TLE3_ENST00000560939.1_Splice_Site|TLE3_ENST00000451782.2_Splice_Site|TLE3_ENST00000559191.1_Intron	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3						Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATCTCTGTCTGCAAAGGCAA	0.433																																						ENST00000558939.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.e5-2		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)							143.0	138.0	140.0					15																	70368499		1963	4146	6109	SO:0001630	splice_region_variant	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70368499T>C	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.235-2A>G	15.37:g.70368499T>C						TLE3_ENST00000442299.2_Splice_Site|TLE3_ENST00000558201.1_Splice_Site|TLE3_ENST00000451782.2_Splice_Site|TLE3_ENST00000557907.1_Splice_Site|TLE3_ENST00000557997.1_Splice_Site|TLE3_ENST00000558379.1_Splice_Site|TLE3_ENST00000560939.1_Splice_Site|TLE3_ENST00000440567.3_Splice_Site|TLE3_ENST00000559048.1_Splice_Site|TLE3_ENST00000317509.8_Splice_Site|TLE3_ENST00000539550.1_Splice_Site|TLE3_ENST00000559929.1_Splice_Site|TLE3_ENST00000560589.1_Splice_Site|TLE3_ENST00000559191.1_Intron				Q04726	TLE3_HUMAN			5	1612	-								B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Splice_Site	SNP	ENST00000558939.1	37		CCDS45293.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.977920	0.74360	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2303	0.82332	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TLE3	68155553	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.924000	0.87555	2.233000	0.73108	0.533000	0.62120	.		0.433	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078	Intron	21	88	0	0	0	1	0	21	88				
CHST9	83539	broad.mit.edu	37	18	24496575	24496575	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr18:24496575C>A	ENST00000284224.8	-	6	1257	c.980G>T	c.(979-981)gGa>gTa	p.G327V	CHST9_ENST00000581714.1_Missense_Mutation_p.G327V|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000580774.1_3'UTR	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	327					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					GAACTTGACTCCAGATCCATT	0.413																																						ENST00000284224.8																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28						c.(979-981)gGa>gTa		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9							144.0	140.0	141.0					18																	24496575		1907	4107	6014	SO:0001583	missense	83539				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr18:24496575C>A	AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.980G>T	18.37:g.24496575C>A	ENSP00000284224:p.Gly327Val					AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.G327V	p.G327V	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN			6	1257	-	all_lung(6;0.0145)|Ovarian(20;0.124)		327					Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	c.980G>T	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.144998	0.57044	.	.	ENSG00000154080	ENST00000284224	T	0.76839	-1.05	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	D	0.87470	0.6185	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86825	0.2007	10	0.87932	D	0	-24.2523	20.8794	0.99867	0.0:1.0:0.0:0.0	.	327	Q7L1S5	CHST9_HUMAN	V	327	ENSP00000284224:G327V	ENSP00000284224:G327V	G	-	2	0	CHST9	22750573	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	5.741000	0.68638	2.941000	0.99782	0.655000	0.94253	GGA		0.413	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		15	97	1	0	1.3612e-06	1	1.40658e-06	15	97				
SPATA31A6	389730	broad.mit.edu	37	9	43627776	43627776	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr9:43627776C>T	ENST00000332857.6	-	4	939	c.911G>A	c.(910-912)cGc>cAc	p.R304H	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	304					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGGTGGGTGGCGGGAAAGAGG	0.547																																						ENST00000332857.6																			0											c.(910-912)cGc>cAc		SPATA31 subfamily A, member 6							2.0	2.0	2.0					9																	43627776		493	1308	1801	SO:0001583	missense	389730							g.chr9:43627776C>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.911G>A	9.37:g.43627776C>T	ENSP00000329825:p.Arg304His					SPATA31A6_ENST00000496386.1_5'UTR	p.R304H	NM_001145196.1	NP_001138668.1					4	939	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.911G>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	0.830	-0.745613	0.03065	.	.	ENSG00000185775	ENST00000332857	T	0.03496	3.91	1.85	-2.27	0.06846	.	2.235050	0.01998	N	0.046052	T	0.02156	0.0067	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.08055	0.003	T	0.43556	-0.9384	10	0.15952	T	0.53	2.0455	6.0958	0.20019	0.0:0.6077:0.0:0.3923	.	304	Q5VVP1	F75A6_HUMAN	H	304	ENSP00000329825:R304H	ENSP00000329825:R304H	R	-	2	0	FAM75A6	43567772	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.588000	0.05774	-0.613000	0.05694	-0.515000	0.04445	CGC		0.547	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		10	309	0	0	0	1	0	10	309				
PRR4	11272	broad.mit.edu	37	12	10999783	10999783	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:10999783G>T	ENST00000228811.4	-	3	321	c.284C>A	c.(283-285)cCc>cAc	p.P95H	PRR4_ENST00000540107.1_Silent_p.T37T|PRR4_ENST00000536668.1_5'UTR|PRR4_ENST00000544994.1_Intron	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	95	Pro-rich.				retina homeostasis (GO:0001895)|visual perception (GO:0007601)	extracellular space (GO:0005615)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						TCCTCGTCGGGGTGGTCGTTG	0.547																																						ENST00000228811.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						c.(283-285)cCc>cAc		proline rich 4 (lacrimal)							242.0	249.0	247.0					12																	10999783		2032	4179	6211	SO:0001583	missense	11272				visual perception	extracellular space		g.chr12:10999783G>T		CCDS41756.1, CCDS55804.1	12p13	2008-02-05		2004-05-28		ENSG00000111215			18020	protein-coding gene	gene with protein product		605359		PROL4		7544782	Standard	NM_007244		Approved	LPRP	uc001qyz.4	Q16378		ENST00000228811.4:c.284C>A	12.37:g.10999783G>T	ENSP00000228811:p.Pro95His					PRR4_ENST00000540107.1_Silent_p.T37T|PRR4_ENST00000544994.1_Intron|PRR4_ENST00000536668.1_5'UTR	p.P95H	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN			3	321	-			95			Pro-rich.		A8KA69|F5H0D7|Q8NFB3	Missense_Mutation	SNP	ENST00000228811.4	37	c.284C>A	CCDS41756.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.567|7.567	0.665975|0.665975	0.14710|0.14710	.|.	.|.	ENSG00000111215|ENSG00000111215	ENST00000228811|ENST00000431566	T|.	0.04758|.	3.56|.	1.51|1.51	1.51|1.51	0.23008|0.23008	.|.	0.235594|0.235594	0.18123|0.18123	U|U	0.150985|0.150985	T|T	0.19604|0.19604	0.0471|0.0471	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999995|0.999995	D|.	0.89917|.	1.0|.	P|.	0.60541|.	0.876|.	T|T	0.15263|0.15263	-1.0443|-1.0443	10|7	0.87932|0.87932	D|D	0|0	.|.	6.4746|6.4746	0.22028|0.22028	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	95|.	Q16378|.	PROL4_HUMAN|.	H|T	95|79	ENSP00000228811:P95H|.	ENSP00000228811:P95H|ENSP00000405056:P79T	P|P	-|-	2|1	0|0	PRR4|PRR4	10891050|10891050	0.007000|0.007000	0.16637|0.16637	0.003000|0.003000	0.11579|0.11579	0.006000|0.006000	0.05464|0.05464	0.219000|0.219000	0.17641|0.17641	1.127000|1.127000	0.42034|0.42034	0.411000|0.411000	0.27672|0.27672	CCC|CCC		0.547	PRR4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400049.1	NM_007244		30	184	1	0	1.7881e-09	1	1.96216e-09	30	184				
TTN	7273	broad.mit.edu	37	2	179629005	179629005	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr2:179629005T>A	ENST00000591111.1	-	43	10237	c.10013A>T	c.(10012-10014)cAg>cTg	p.Q3338L	TTN_ENST00000342992.6_Missense_Mutation_p.Q3338L|TTN_ENST00000360870.5_Missense_Mutation_p.Q3338L|TTN_ENST00000589042.1_Missense_Mutation_p.Q3338L|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q3292L|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q3292L|TTN_ENST00000359218.5_Missense_Mutation_p.Q3292L			Q8WZ42	TITIN_HUMAN	titin	13659					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)			AGGCATTTCCTGATCAGGAGA	0.468																																						ENST00000589042.1																			0				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						c.(10012-10014)cAg>cTg		titin							66.0	62.0	63.0					2																	179629005		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179629005T>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.10013A>T	2.37:g.179629005T>A	ENSP00000465570:p.Gln3338Leu					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q3338L|TTN_ENST00000460472.2_Missense_Mutation_p.Q3292L|TTN_ENST00000591111.1_Missense_Mutation_p.Q3338L|TTN_ENST00000342175.6_Missense_Mutation_p.Q3292L|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.Q3338L|TTN_ENST00000359218.5_Missense_Mutation_p.Q3292L	p.Q3338L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		43	10237	-			3063					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.10013A>T		.	.	.	.	.	.	.	.	.	.	T	16.02	3.003062	0.54254	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.62639	0.01;0.24;0.19;0.2;0.37	5.69	4.47	0.54385	Ribonuclease H-like (1);	.	.	.	.	T	0.37517	0.1006	N	0.02802	-0.49	0.22933	N	0.998549	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.08055	0.0;0.0;0.0;0.0;0.003	T	0.22138	-1.0225	9	0.87932	D	0	.	8.9267	0.35646	0.3299:0.0:0.0:0.6701	.	3292;3292;3292;3338;3338	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	3338;3292;3292;3292;3292;3338	ENSP00000343764:Q3338L;ENSP00000434586:Q3292L;ENSP00000340554:Q3292L;ENSP00000352154:Q3292L;ENSP00000354117:Q3338L	ENSP00000340554:Q3292L	Q	-	2	0	TTN	179337250	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.346000	0.59367	2.167000	0.68274	0.533000	0.62120	CAG		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	17	0	0	0	1	0	8	17				
ALS2CL	259173	broad.mit.edu	37	3	46713390	46713390	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:46713390C>T	ENST00000318962.4	-	24	2751	c.2668G>A	c.(2668-2670)Gtg>Atg	p.V890M	ALS2CL_ENST00000383742.3_Missense_Mutation_p.V237M|ALS2CL_ENST00000415953.1_Missense_Mutation_p.V890M	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	890	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CGCGACACCACGTAGATGAGA	0.627																																						ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(2668-2670)Gtg>Atg		ALS2 C-terminal like							73.0	57.0	62.0					3																	46713390		2203	4300	6503	SO:0001583	missense	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46713390C>T	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.2668G>A	3.37:g.46713390C>T	ENSP00000313670:p.Val890Met					ALS2CL_ENST00000415953.1_Missense_Mutation_p.V890M|ALS2CL_ENST00000383742.3_Missense_Mutation_p.V237M	p.V890M	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	24	2751	-			890			VPS9.		Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	c.2668G>A	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095352	0.76870	.	.	ENSG00000178038	ENST00000318962;ENST00000415953;ENST00000383742	T;T;T	0.42513	0.97;0.97;0.97	5.29	5.29	0.74685	Vacuolar sorting protein 9 (2);	0.000000	0.53938	D	0.000053	T	0.65585	0.2705	M	0.73962	2.25	0.47862	D	0.999531	D	0.89917	1.0	D	0.97110	1.0	T	0.69461	-0.5139	10	0.87932	D	0	.	16.4135	0.83727	0.0:1.0:0.0:0.0	.	890	Q60I27	AL2CL_HUMAN	M	890;890;237	ENSP00000313670:V890M;ENSP00000413223:V890M;ENSP00000373248:V237M	ENSP00000313670:V890M	V	-	1	0	ALS2CL	46688394	1.000000	0.71417	0.994000	0.49952	0.525000	0.34531	6.354000	0.73036	2.465000	0.83290	0.650000	0.86243	GTG		0.627	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		12	42	0	0	0	1	0	12	42				
TP63	8626	broad.mit.edu	37	3	189582020	189582020	+	Splice_Site	SNP	G	G	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:189582020G>T	ENST00000264731.3	+	5	668		c.e5-1		TP63_ENST00000437221.1_Splice_Site|TP63_ENST00000392460.3_Splice_Site|TP63_ENST00000320472.5_Splice_Site|TP63_ENST00000440651.2_Splice_Site|TP63_ENST00000449992.1_Splice_Site|TP63_ENST00000392461.3_Splice_Site|TP63_ENST00000456148.1_Splice_Site|TP63_ENST00000382063.4_Splice_Site|TP63_ENST00000418709.2_Splice_Site|TP63_ENST00000392463.2_Splice_Site|TP63_ENST00000354600.5_Splice_Site	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63						apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACTCTAAGCAGTATTCCACTG	0.458										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.e5-1		tumor protein p63							173.0	181.0	178.0					3																	189582020		2203	4300	6503	SO:0001630	splice_region_variant	8626				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189582020G>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.580-1G>T	3.37:g.189582020G>T		HNSCC(45;0.13)				TP63_ENST00000382063.4_Splice_Site|TP63_ENST00000437221.1_Splice_Site|TP63_ENST00000392463.2_Splice_Site|TP63_ENST00000354600.5_Splice_Site|TP63_ENST00000392461.3_Splice_Site|TP63_ENST00000449992.1_Splice_Site|TP63_ENST00000320472.5_Splice_Site|TP63_ENST00000440651.2_Splice_Site|TP63_ENST00000456148.1_Splice_Site|TP63_ENST00000392460.3_Splice_Site|TP63_ENST00000418709.2_Splice_Site		NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	5	668	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)							O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Splice_Site	SNP	ENST00000264731.3	37		CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606075	0.87157	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000434928;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4235	0.90600	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TP63	191064714	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.768000	0.98965	2.663000	0.90544	0.655000	0.94253	.		0.458	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722	Intron	107	124	1	0	5.96743e-59	1	6.72692e-59	107	124				
OR6T1	219874	broad.mit.edu	37	11	123813817	123813817	+	Silent	SNP	C	C	T	rs138335573		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:123813817C>T	ENST00000321252.2	-	1	763	c.729G>A	c.(727-729)tcG>tcA	p.S243S		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTGTAAGATGCGAGGCGCAAG	0.522																																						ENST00000321252.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(727-729)tcG>tcA		olfactory receptor, family 6, subfamily T, member 1		C		1,4403	2.1+/-5.4	0,1,2201	159.0	137.0	145.0		729	-7.4	0.0	11	dbSNP_134	145	0,8598		0,0,4299	no	coding-synonymous	OR6T1	NM_001005187.1		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		243/324	123813817	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123813817C>T	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.729G>A	11.37:g.123813817C>T							p.S243S	NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	763	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	243					Q6IFE7	Silent	SNP	ENST00000321252.2	37	c.729G>A	CCDS31700.1																																																																																				0.522	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		24	61	0	0	0	1	0	24	61				
KIF4B	285643	broad.mit.edu	37	5	154395835	154395835	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr5:154395835C>T	ENST00000435029.4	+	1	2576	c.2416C>T	c.(2416-2418)Cat>Tat	p.H806Y		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	806	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTCTGAGGTGCATGGTCAAGT	0.443																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(2416-2418)Cat>Tat		kinesin family member 4B							46.0	49.0	48.0					5																	154395835		2198	4298	6496	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395835C>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2416C>T	5.37:g.154395835C>T	ENSP00000387875:p.His806Tyr						p.H806Y	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2576	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	806			Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.2416C>T	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	c	0	-2.688641	0.00100	.	.	ENSG00000226650	ENST00000435029	T	0.67345	-0.26	1.48	-1.87	0.07737	.	.	.	.	.	T	0.47764	0.1463	L	0.34521	1.04	0.09310	N	1	B	0.19935	0.04	B	0.21151	0.033	T	0.33420	-0.9869	9	0.59425	D	0.04	.	1.4127	0.02295	0.1764:0.4378:0.1734:0.2124	.	806	Q2VIQ3	KIF4B_HUMAN	Y	806	ENSP00000387875:H806Y	ENSP00000387875:H806Y	H	+	1	0	KIF4B	154376028	0.269000	0.24143	0.000000	0.03702	0.001000	0.01503	-1.756000	0.01813	-1.147000	0.02851	-2.806000	0.00112	CAT		0.443	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			5	32	0	0	0	1	0	5	32				
ANP32A	8125	broad.mit.edu	37	15	69113049	69113049	+	Silent	SNP	C	C	T	rs373044896		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr15:69113049C>T	ENST00000465139.2	-	1	185	c.42G>A	c.(40-42)agG>agA	p.R14R	ANP32A_ENST00000560303.1_Silent_p.R14R|SPESP1_ENST00000560188.1_Intron	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	14					gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|nucleocytoplasmic transport (GO:0006913)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						CAGAGGGCGTCCTGTTCCGCA	0.542																																						ENST00000465139.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(40-42)agG>agA		acidic (leucine-rich) nuclear phosphoprotein 32 family, member A		C		2,4224		0,2,2111	68.0	75.0	72.0		42	4.2	1.0	15		72	0,8496		0,0,4248	no	coding-synonymous	ANP32A	NM_006305.3		0,2,6359	TT,TC,CC		0.0,0.0473,0.0157		14/250	69113049	2,12720	2113	4248	6361	SO:0001819	synonymous_variant	8125				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding	g.chr15:69113049C>T	AF025684	CCDS45292.1	15q23	2008-05-14			ENSG00000140350	ENSG00000140350		"""ANP32 acidic nuclear phosphoproteins"""	13233	protein-coding gene	gene with protein product		600832		C15orf1		8970164, 9144194	Standard	NM_006305		Approved	LANP, PP32, I1PP2A, PHAPI, MAPM, mapmodulin	uc002arl.3	P39687	OTTHUMG00000154502	ENST00000465139.2:c.42G>A	15.37:g.69113049C>T						ANP32A_ENST00000560303.1_Silent_p.R14R|SPESP1_ENST00000560188.1_Intron	p.R14R	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN			1	185	-			14					B2R6T4|Q53FK4|Q5J8L8|Q7M4N6	Silent	SNP	ENST00000465139.2	37	c.42G>A	CCDS45292.1																																																																																				0.542	ANP32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335525.2			10	33	0	0	0	1	0	10	33				
IGF2	3481	broad.mit.edu	37	11	2154380	2154380	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:2154380C>T	ENST00000416167.2	-	4	1546	c.380G>A	c.(379-381)cGc>cAc	p.R127H	IGF2_ENST00000418738.2_Missense_Mutation_p.R127H|MIR483_ENST00000385070.1_RNA|IGF2_ENST00000381395.1_Missense_Mutation_p.R127H|IGF2_ENST00000381392.1_Missense_Mutation_p.R130H|IGF2_ENST00000434045.2_Missense_Mutation_p.R183H|IGF2_ENST00000381389.1_Missense_Mutation_p.R127H|IGF2_ENST00000381406.4_Missense_Mutation_p.R130H|IGF2_ENST00000300632.5_Missense_Mutation_p.R127H			P01344	IGF2_HUMAN	insulin-like growth factor 2	127					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CAGGCCCCTGCGCAGGCGCTG	0.657																																						ENST00000416167.2																			0				central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6						c.(379-381)cGc>cAc		insulin-like growth factor 2 (somatomedin A)							30.0	29.0	30.0					11																	2154380		2201	4297	6498	SO:0001583	missense	3481				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity	g.chr11:2154380C>T	M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.380G>A	11.37:g.2154380C>T	ENSP00000414497:p.Arg127His					IGF2_ENST00000381389.1_Missense_Mutation_p.R127H|IGF2_ENST00000381392.1_Missense_Mutation_p.R130H|IGF2_ENST00000434045.2_Missense_Mutation_p.R183H|IGF2_ENST00000337883.6_Missense_Mutation_p.R127H|IGF2_ENST00000300632.5_Missense_Mutation_p.R127H|IGF2_ENST00000381406.4_Missense_Mutation_p.R130H|IGF2_ENST00000381395.1_Missense_Mutation_p.R127H|IGF2_ENST00000418738.2_Missense_Mutation_p.R127H	p.R127H			P01344	IGF2_HUMAN	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	4	1546	-		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	127					B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Missense_Mutation	SNP	ENST00000416167.2	37	c.380G>A	CCDS7728.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645201	0.67358	.	.	ENSG00000167244	ENST00000381395;ENST00000381406;ENST00000416167;ENST00000300632;ENST00000381319;ENST00000434045;ENST00000381392;ENST00000381389;ENST00000418738;ENST00000337883;ENST00000381379	T;T;T;T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17	2.92	2.92	0.33932	Insulin-like growth factor II E-peptide, C-terminal (2);	0.071892	0.53938	U	0.000047	T	0.73148	0.3550	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74734	-0.3565	10	0.87932	D	0	-13.9465	5.9707	0.19351	0.0:0.8531:0.0:0.1469	.	183;127	C9JAF2;P01344	.;IGF2_HUMAN	H	127;130;127;127;130;183;130;127;127;127;130	ENSP00000370802:R127H;ENSP00000370813:R130H;ENSP00000414497:R127H;ENSP00000300632:R127H;ENSP00000391826:R183H;ENSP00000370799:R130H;ENSP00000370796:R127H;ENSP00000402047:R127H;ENSP00000338297:R127H	ENSP00000300632:R127H	R	-	2	0	IGF2	2110956	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	3.836000	0.55813	1.648000	0.50643	0.462000	0.41574	CGC		0.657	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026053.2	NM_000612		6	25	0	0	0	1	0	6	25				
ADAMTS8	11095	broad.mit.edu	37	11	130284550	130284550	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:130284550C>T	ENST00000257359.6	-	5	2148	c.1442G>A	c.(1441-1443)gGg>gAg	p.G481E		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	481	Disintegrin.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGGCTCAGCCCCATCAGTGTG	0.652																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(1441-1443)gGg>gAg		ADAM metallopeptidase with thrombospondin type 1 motif, 8							59.0	67.0	64.0					11																	130284550		2084	4206	6290	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130284550C>T	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1442G>A	11.37:g.130284550C>T	ENSP00000257359:p.Gly481Glu						p.G481E	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	5	2148	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	481			Disintegrin.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.1442G>A	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947911	0.34377	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	T	0.60171	0.21	5.59	2.61	0.31194	.	0.438542	0.28016	N	0.016937	T	0.45975	0.1369	L	0.55017	1.72	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.38972	-0.9636	10	0.49607	T	0.09	.	4.0105	0.09621	0.1126:0.5485:0.1853:0.1535	.	481	Q9UP79	ATS8_HUMAN	E	481;510	ENSP00000257359:G481E	ENSP00000257359:G481E	G	-	2	0	ADAMTS8	129789760	0.000000	0.05858	0.008000	0.14137	0.924000	0.55760	1.192000	0.32150	1.358000	0.45922	0.655000	0.94253	GGG		0.652	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		4	109	0	0	0	1	0	4	109				
EIF3A	8661	broad.mit.edu	37	10	120829137	120829137	+	Silent	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr10:120829137G>A	ENST00000369144.3	-	6	898	c.771C>T	c.(769-771)caC>caT	p.H257H	EIF3A_ENST00000541549.1_Silent_p.H223H	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AGAATAGCCCGTGAATATCTT	0.323																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(769-771)caC>caT		eukaryotic translation initiation factor 3, subunit A							106.0	103.0	104.0					10																	120829137		2203	4300	6503	SO:0001819	synonymous_variant	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120829137G>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.771C>T	10.37:g.120829137G>A						EIF3A_ENST00000541549.1_Silent_p.H223H|EIF3A_ENST00000478852.1_Intron	p.H257H	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	6	898	-		Lung NSC(174;0.094)|all_lung(145;0.123)	257					B7ZBG9|Q6IBN8|Q96TD5	Silent	SNP	ENST00000369144.3	37	c.771C>T	CCDS7608.1																																																																																				0.323	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		14	55	0	0	0	1	0	14	55				
ACTR8	93973	broad.mit.edu	37	3	53914080	53914080	+	Silent	SNP	A	A	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:53914080A>T	ENST00000335754.3	-	2	280	c.180T>A	c.(178-180)atT>atA	p.I60I	AC012467.1_ENST00000410956.1_RNA|ACTR8_ENST00000231909.7_5'Flank|ACTR8_ENST00000482349.1_5'UTR	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	60					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TGGCTCGACCAATCCTTAAAG	0.438																																						ENST00000335754.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19						c.(178-180)atT>atA		ARP8 actin-related protein 8 homolog (yeast)							177.0	166.0	170.0					3																	53914080		2203	4300	6503	SO:0001819	synonymous_variant	93973				cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	g.chr3:53914080A>T		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.180T>A	3.37:g.53914080A>T						ACTR8_ENST00000482349.1_5'UTR	p.I60I	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	2	280	-			60					B3KSW7|Q8N566|Q9H663	Silent	SNP	ENST00000335754.3	37	c.180T>A	CCDS2875.1																																																																																				0.438	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		16	72	0	0	0	1	0	16	72				
PCNT	5116	broad.mit.edu	37	21	47775531	47775531	+	Silent	SNP	G	G	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr21:47775531G>T	ENST00000359568.5	+	12	2033	c.1926G>T	c.(1924-1926)ggG>ggT	p.G642G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	642	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCTCTGAAGGGCACAGCCAAG	0.642																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(1924-1926)ggG>ggT		pericentrin							37.0	31.0	33.0					21																	47775531		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47775531G>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1926G>T	21.37:g.47775531G>T						PCNT_ENST00000480896.1_3'UTR	p.G642G	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			12	2033	+	Breast(49;0.112)		642			Glu-rich.		O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.1926G>T	CCDS33592.1																																																																																				0.642	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		6	19	1	0	0.00116845	1	0.0011876	6	19				
U2SURP	23350	broad.mit.edu	37	3	142731100	142731100	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:142731100A>T	ENST00000473835.2	+	3	217	c.127A>T	c.(127-129)Agt>Tgt	p.S43C	U2SURP_ENST00000493598.2_Missense_Mutation_p.S43C|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	43					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TGATATGCCAAGTCGGACACG	0.393																																						ENST00000473835.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(127-129)Agt>Tgt		U2 snRNP-associated SURP domain containing							101.0	91.0	94.0					3																	142731100		1843	4084	5927	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142731100A>T	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.127A>T	3.37:g.142731100A>T	ENSP00000418563:p.Ser43Cys					U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.S43C	p.S43C	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN			3	217	+			43					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.127A>T	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.853226	0.51270	.	.	ENSG00000163714	ENST00000473835;ENST00000493782;ENST00000319822;ENST00000493598;ENST00000465175	T;T	0.10763	2.84;2.84	5.66	4.48	0.54585	.	0.151942	0.47852	D	0.000219	T	0.15652	0.0377	N	0.14661	0.345	0.80722	D	1	P;P;P	0.49696	0.88;0.927;0.88	P;D;D	0.69654	0.7;0.965;0.923	T	0.05835	-1.0861	10	0.87932	D	0	-10.9885	9.0539	0.36394	0.8362:0.0:0.0:0.1638	.	43;43;43	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	C	43;43;43;43;13	ENSP00000418563:S43C;ENSP00000422011:S43C	ENSP00000322376:S43C	S	+	1	0	U2SURP	144213790	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.680000	0.46918	1.043000	0.40175	0.533000	0.62120	AGT		0.393	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		10	42	0	0	0	1	0	10	42				
DIDO1	11083	broad.mit.edu	37	20	61512130	61512130	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr20:61512130C>A	ENST00000266070.4	-	16	5503	c.5178G>T	c.(5176-5178)caG>caT	p.Q1726H	DIDO1_ENST00000395343.1_Missense_Mutation_p.Q1726H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1726	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGGGTCTGGCCTGTGGCTCTC	0.642																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(5176-5178)caG>caT		death inducer-obliterator 1							61.0	72.0	68.0					20																	61512130		2202	4299	6501	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512130C>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5178G>T	20.37:g.61512130C>A	ENSP00000266070:p.Gln1726His					DIDO1_ENST00000395343.1_Missense_Mutation_p.Q1726H	p.Q1726H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5503	-	Breast(26;5.68e-08)		1726			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.5178G>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.290130	0.23478	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.10099	2.91;2.91	5.17	1.6	0.23607	.	0.000000	0.40818	N	0.001003	T	0.07818	0.0196	L	0.36672	1.1	0.09310	N	0.999999	B	0.20368	0.044	B	0.20384	0.029	T	0.32666	-0.9898	10	0.27082	T	0.32	-11.7878	7.4679	0.27332	0.133:0.6288:0.0:0.2383	.	1726	Q9BTC0	DIDO1_HUMAN	H	1726	ENSP00000266070:Q1726H;ENSP00000378752:Q1726H	ENSP00000266070:Q1726H	Q	-	3	2	DIDO1	60982575	0.868000	0.29978	0.002000	0.10522	0.165000	0.22458	1.158000	0.31737	0.532000	0.28657	0.555000	0.69702	CAG		0.642	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		19	119	1	0	1.9806e-07	1	2.11719e-07	19	119				
SCP2	6342	broad.mit.edu	37	1	53443924	53443924	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr1:53443924C>T	ENST00000528311.1	+	8	763	c.467C>T	c.(466-468)gCc>gTc	p.A156V	SCP2_ENST00000407246.2_Missense_Mutation_p.A213V|SCP2_ENST00000371509.4_Missense_Mutation_p.A193V|SCP2_ENST00000371514.3_Missense_Mutation_p.A237V|SCP2_ENST00000473584.1_3'UTR|SCP2_ENST00000371513.5_Missense_Mutation_p.A193V	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	877					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						GCAATTTTGGCCAGTGAAGCA	0.433																																						ENST00000371514.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						c.(709-711)gCc>gTc		sterol carrier protein 2							88.0	84.0	85.0					1																	53443924		2203	4300	6503	SO:0001583	missense	6342				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding	g.chr1:53443924C>T	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.467C>T	1.37:g.53443924C>T	ENSP00000434132:p.Ala156Val					SCP2_ENST00000528311.1_Missense_Mutation_p.A156V|SCP2_ENST00000407246.2_Missense_Mutation_p.A213V|SCP2_ENST00000371509.4_Missense_Mutation_p.A193V|SCP2_ENST00000473584.1_3'UTR|SCP2_ENST00000371513.5_Missense_Mutation_p.A193V	p.A237V	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN			9	878	+			237					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000528311.1	37	c.710C>T	CCDS53319.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.487|5.487	0.274941|0.274941	0.10403|0.10403	.|.	.|.	ENSG00000116171|ENSG00000116171	ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000371513|ENST00000529363	D;T;D;D;D|.	0.94931|.	-3.56;-0.47;-3.56;-3.56;-3.56|.	5.17|5.17	4.27|4.27	0.50696|0.50696	Thiolase-like, subgroup (1);Thiolase-like (1);|.	0.212247|.	0.48767|.	N|.	0.000172|.	T|T	0.42404|0.42404	0.1201|0.1201	N|N	0.21448|0.21448	0.665|0.665	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.15141|.	0.002;0.002;0.001;0.012|.	B;B;B;B|.	0.18871|.	0.011;0.008;0.007;0.023|.	T|T	0.23547|0.23547	-1.0185|-1.0185	10|5	0.06757|.	T|.	0.87|.	-3.7455|-3.7455	9.6923|9.6923	0.40136|0.40136	0.0:0.8413:0.0:0.1587|0.0:0.8413:0.0:0.1587	.|.	213;193;237;193|.	C9JC79;A6NM69;P22307;Q6NXF4|.	.;.;NLTP_HUMAN;.|.	V|S	237;156;193;213;193|183	ENSP00000360569:A237V;ENSP00000434132:A156V;ENSP00000360564:A193V;ENSP00000384569:A213V;ENSP00000360568:A193V|.	ENSP00000360564:A193V|.	A|P	+|+	2|1	0|0	SCP2|SCP2	53216512|53216512	0.940000|0.940000	0.31905|0.31905	0.905000|0.905000	0.35620|0.35620	0.658000|0.658000	0.38924|0.38924	1.993000|1.993000	0.40747|0.40747	1.412000|1.412000	0.46977|0.46977	0.650000|0.650000	0.86243|0.86243	GCC|CCA		0.433	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	NM_002979		3	33	0	0	0	1	0	3	33				
BRF1	2972	broad.mit.edu	37	14	105677540	105677540	+	Missense_Mutation	SNP	C	C	T	rs369638144		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr14:105677540C>T	ENST00000546474.1	-	17	16874	c.1915G>A	c.(1915-1917)Gac>Aac	p.D639N	BRF1_ENST00000551787.1_Intron|BRF1_ENST00000379937.2_Missense_Mutation_p.D612N|BRF1_ENST00000392557.4_Missense_Mutation_p.D435N|BRF1_ENST00000446501.2_Missense_Mutation_p.D401N|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000547530.1_Missense_Mutation_p.D165N|BRF1_ENST00000327359.3_Missense_Mutation_p.D524N|BRF1_ENST00000440513.3_Missense_Mutation_p.D546N	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	639					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GCCTCCTCGTCGGCGTGGTAT	0.682																																						ENST00000546474.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(1915-1917)Gac>Aac		BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit		C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	66.0	63.0	64.0		1636,1570,1834,1201,1915,1303	4.3	0.1	14		64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	BRF1	NM_001242786.1,NM_001242787.1,NM_001242788.1,NM_001242789.1,NM_001519.3,NM_145685.2	23,23,23,23,23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	546/585,524/563,612/651,401/440,639/678,435/474	105677540	1,13005	2203	4300	6503	SO:0001583	missense	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105677540C>T	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1915G>A	14.37:g.105677540C>T	ENSP00000448323:p.Asp639Asn					BRF1_ENST00000440513.3_Missense_Mutation_p.D546N|BRF1_ENST00000446501.2_Missense_Mutation_p.D401N|BRF1_ENST00000392557.4_Missense_Mutation_p.D435N|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000547530.1_Missense_Mutation_p.D165N|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000327359.3_Missense_Mutation_p.D524N|BRF1_ENST00000379937.2_Missense_Mutation_p.D612N	p.D639N	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	17	16874	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	639					B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	ENST00000546474.1	37	c.1915G>A	CCDS10001.1	.	.	.	.	.	.	.	.	.	.	C	9.985	1.229220	0.22542	0.0	1.16E-4	ENSG00000185024	ENST00000392557;ENST00000379937;ENST00000546474;ENST00000547530;ENST00000446501;ENST00000327359;ENST00000440513	.	.	.	4.28	4.28	0.50868	.	0.614688	0.14698	N	0.303723	T	0.42562	0.1208	L	0.29908	0.895	0.80722	D	1	P;P;P	0.52577	0.709;0.954;0.871	B;B;B	0.43386	0.115;0.418;0.143	T	0.21621	-1.0240	9	0.29301	T	0.29	.	12.9622	0.58464	0.0:1.0:0.0:0.0	.	546;612;639	F5H5Z7;Q92994-5;Q92994	.;.;TF3B_HUMAN	N	435;612;639;165;401;524;546	.	ENSP00000329029:D524N	D	-	1	0	BRF1	104748585	0.789000	0.28775	0.110000	0.21437	0.025000	0.11179	5.438000	0.66550	2.328000	0.79073	0.655000	0.94253	GAC		0.682	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		10	55	0	0	0	1	0	10	55				
KIRREL3	84623	broad.mit.edu	37	11	126314960	126314960	+	Missense_Mutation	SNP	C	C	T	rs562824080	byFrequency	TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:126314960C>T	ENST00000525144.2	-	10	1415	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	KIRREL3_ENST00000529097.2_Missense_Mutation_p.R389H|KIRREL3_ENST00000525704.2_Missense_Mutation_p.R389H	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	389	Ig-like C2-type 4.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GTCCTCCTGGCGCACGGATTT	0.622													C|||	2	0.000399361	0.0	0.0	5008	,	,		19523	0.0		0.0	False		,,,				2504	0.002					ENST00000525144.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(1165-1167)cGc>cAc		kin of IRRE like 3 (Drosophila)							47.0	52.0	50.0					11																	126314960		2081	4205	6286	SO:0001583	missense	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126314960C>T	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1166G>A	11.37:g.126314960C>T	ENSP00000435466:p.Arg389His					KIRREL3_ENST00000525704.2_Missense_Mutation_p.R389H|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R389H	p.R389H	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	10	1415	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	389			Ig-like C2-type 4.		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	c.1166G>A	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680377	0.88542	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.29917	1.55;1.55;1.55	5.26	5.26	0.73747	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	L	0.41415	1.275	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;P;D	0.70716	0.955;0.862;0.97	T	0.42965	-0.9420	10	0.56958	D	0.05	.	18.8201	0.92092	0.0:1.0:0.0:0.0	.	389;389;389	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	H	389	ENSP00000435466:R389H;ENSP00000434081:R389H;ENSP00000435094:R389H	ENSP00000435466:R389H	R	-	2	0	KIRREL3	125820170	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.954000	0.56708	2.610000	0.88304	0.551000	0.68910	CGC		0.622	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		9	60	0	0	0	1	0	9	60				
FPR3	2359	broad.mit.edu	37	19	52327257	52327257	+	Missense_Mutation	SNP	G	G	A	rs143250626		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr19:52327257G>A	ENST00000339223.4	+	2	435	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	FPR3_ENST00000595991.1_Missense_Mutation_p.A86T	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	86					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)	p.A86S(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GGTCTCAGTCGCCATGAGAGA	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		24136	0.001		0.0	False		,,,				2504	0.0					ENST00000339223.4																			1	Substitution - Missense(1)	p.A86S(1)	lung(1)	NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						c.(256-258)Gcc>Acc		formyl peptide receptor 3							137.0	108.0	117.0					19																	52327257		2203	4300	6503	SO:0001583	missense	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327257G>A		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.256G>A	19.37:g.52327257G>A	ENSP00000341821:p.Ala86Thr					FPR3_ENST00000595991.1_Missense_Mutation_p.A86T	p.A86T	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN			2	435	+			86						Missense_Mutation	SNP	ENST00000339223.4	37	c.256G>A	CCDS12841.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	13.34	2.207472	0.39003	.	.	ENSG00000187474	ENST00000339223	T	0.37915	1.17	2.19	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.178983	0.37577	N	0.002036	T	0.58623	0.2135	M	0.85710	2.77	0.31165	N	0.703929	D	0.76494	0.999	D	0.69824	0.966	T	0.64740	-0.6336	10	0.72032	D	0.01	.	10.0301	0.42096	0.0:0.0:1.0:0.0	.	86	P25089	FPR3_HUMAN	T	86	ENSP00000341821:A86T	ENSP00000341821:A86T	A	+	1	0	FPR3	57019069	0.334000	0.24739	0.040000	0.18447	0.012000	0.07955	2.228000	0.42981	1.223000	0.43536	0.467000	0.42956	GCC		0.453	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		13	62	0	0	0	1	0	13	62				
ADAMTSL3	57188	broad.mit.edu	37	15	84705637	84705637	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr15:84705637G>A	ENST00000286744.5	+	29	5091	c.4867G>A	c.(4867-4869)Gac>Aac	p.D1623N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D1623N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1623	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCGGAAAGTCGACTGTATCCA	0.542																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(4867-4869)Gac>Aac		ADAMTS-like 3							66.0	67.0	67.0					15																	84705637		2203	4299	6502	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84705637G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4867G>A	15.37:g.84705637G>A	ENSP00000286744:p.Asp1623Asn					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D1623N	p.D1623N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		29	5091	+			1623			TSP type-1 10.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.4867G>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595938	0.28445	.	.	ENSG00000156218	ENST00000286744	T	0.60548	0.18	5.27	-0.424	0.12321	.	2.140950	0.02571	N	0.097836	T	0.38957	0.1060	L	0.34521	1.04	0.09310	N	1	P;B	0.43885	0.82;0.291	B;B	0.32583	0.148;0.015	T	0.26710	-1.0095	10	0.26408	T	0.33	.	4.1505	0.10235	0.1854:0.396:0.3173:0.1012	.	1623;1623	P82987-2;P82987	.;ATL3_HUMAN	N	1623	ENSP00000286744:D1623N	ENSP00000286744:D1623N	D	+	1	0	ADAMTSL3	82496641	0.762000	0.28451	0.000000	0.03702	0.228000	0.25075	1.271000	0.33098	-0.242000	0.09667	0.650000	0.86243	GAC		0.542	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		8	22	0	0	0	1	0	8	22				
DNAH8	1769	broad.mit.edu	37	6	38850794	38850794	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr6:38850794A>T	ENST00000359357.3	+	52	7570	c.7316A>T	c.(7315-7317)aAt>aTt	p.N2439I	DNAH8_ENST00000441566.1_Missense_Mutation_p.N2403I|DNAH8_ENST00000449981.2_Missense_Mutation_p.N2656I			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2439	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTAGAACAAATTTTTTGATA	0.338																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(7315-7317)aAt>aTt		dynein, axonemal, heavy chain 8							86.0	98.0	94.0					6																	38850794		2203	4293	6496	SO:0001583	missense	1769							g.chr6:38850794A>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7316A>T	6.37:g.38850794A>T	ENSP00000352312:p.Asn2439Ile					DNAH8_ENST00000449981.2_Missense_Mutation_p.N2656I|DNAH8_ENST00000441566.1_Missense_Mutation_p.N2403I	p.N2439I							52	7570	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.7316A>T		.	.	.	.	.	.	.	.	.	.	A	15.25	2.777026	0.49786	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.17370	2.28;2.28;2.28	5.87	0.294	0.15747	.	0.448930	0.25456	N	0.030553	T	0.06005	0.0156	L	0.43701	1.375	0.31780	N	0.631038	P	0.36222	0.544	B	0.37650	0.255	T	0.23868	-1.0176	10	0.38643	T	0.18	.	10.1167	0.42596	0.7264:0.0:0.2736:0.0	.	2439	Q96JB1	DYH8_HUMAN	I	2644;2644;2439;2403	ENSP00000333363:N2644I;ENSP00000352312:N2439I;ENSP00000402294:N2403I	ENSP00000333363:N2644I	N	+	2	0	DNAH8	38958772	0.000000	0.05858	0.995000	0.50966	0.868000	0.49771	1.498000	0.35660	0.078000	0.16900	-0.297000	0.09499	AAT		0.338	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		8	63	0	0	0	1	0	8	63				
IMPDH1	3614	broad.mit.edu	37	7	128034605	128034605	+	Silent	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr7:128034605C>T	ENST00000480861.1	-	12	1406	c.1329G>A	c.(1327-1329)caG>caA	p.Q443Q	IMPDH1_ENST00000354269.5_Silent_p.Q523Q|IMPDH1_ENST00000338791.6_Silent_p.Q533Q|IMPDH1_ENST00000470772.1_Silent_p.Q447Q|IMPDH1_ENST00000496200.1_Silent_p.Q423Q|IMPDH1_ENST00000343214.4_Silent_p.Q423Q|IMPDH1_ENST00000378717.4_Silent_p.Q464Q|IMPDH1_ENST00000419067.2_Silent_p.Q500Q|IMPDH1_ENST00000348127.6_Silent_p.Q497Q	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						ATCCTTTGTCCTGGATGGAGC	0.602																																						ENST00000338791.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						c.(1597-1599)caG>caA		IMP (inosine 5'-monophosphate) dehydrogenase 1	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						88.0	84.0	86.0					7																	128034605		2203	4300	6503	SO:0001819	synonymous_variant	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128034605C>T		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.1329G>A	7.37:g.128034605C>T						IMPDH1_ENST00000480861.1_Silent_p.Q443Q|IMPDH1_ENST00000470772.1_Silent_p.Q447Q|IMPDH1_ENST00000354269.5_Silent_p.Q523Q|IMPDH1_ENST00000348127.6_Silent_p.Q497Q|IMPDH1_ENST00000419067.2_Silent_p.Q500Q|IMPDH1_ENST00000378717.4_Silent_p.Q464Q|IMPDH1_ENST00000343214.4_Silent_p.Q423Q|IMPDH1_ENST00000496200.1_Silent_p.Q423Q	p.Q533Q	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN			15	1949	-			448						Silent	SNP	ENST00000480861.1	37	c.1599G>A	CCDS55161.1																																																																																				0.602	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883		4	59	0	0	0	1	0	4	59				
MARK2	2011	broad.mit.edu	37	11	63666265	63666265	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:63666265G>T	ENST00000509502.2	+	6	798	c.335G>T	c.(334-336)gGc>gTc	p.G112V	MARK2_ENST00000350490.7_Missense_Mutation_p.G145V|MARK2_ENST00000361128.5_Missense_Mutation_p.G145V|MARK2_ENST00000508192.1_Missense_Mutation_p.G145V|MARK2_ENST00000315032.8_Missense_Mutation_p.G145V|MARK2_ENST00000413835.2_Missense_Mutation_p.G145V|MARK2_ENST00000377810.3_Missense_Mutation_p.G112V|MARK2_ENST00000402010.2_Missense_Mutation_p.G145V|MARK2_ENST00000502399.3_Missense_Mutation_p.G145V|MARK2_ENST00000425897.2_Missense_Mutation_p.G112V|MARK2_ENST00000377809.4_Missense_Mutation_p.G145V|MARK2_ENST00000408948.3_Missense_Mutation_p.G112V|MARK2_ENST00000513765.2_Missense_Mutation_p.G112V	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GTGGCTCATGGCAGGATGAAA	0.527																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(433-435)gGc>gTc		MAP/microtubule affinity-regulating kinase 2							67.0	72.0	70.0					11																	63666265		2201	4297	6498	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63666265G>T	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.335G>T	11.37:g.63666265G>T	ENSP00000423974:p.Gly112Val					MARK2_ENST00000350490.7_Missense_Mutation_p.G145V|MARK2_ENST00000513765.2_Missense_Mutation_p.G112V|MARK2_ENST00000509502.2_Missense_Mutation_p.G112V|MARK2_ENST00000508192.1_Missense_Mutation_p.G145V|MARK2_ENST00000361128.5_Missense_Mutation_p.G145V|MARK2_ENST00000315032.8_Missense_Mutation_p.G145V|MARK2_ENST00000408948.3_Missense_Mutation_p.G112V|MARK2_ENST00000502399.3_Missense_Mutation_p.G145V|MARK2_ENST00000377810.3_Missense_Mutation_p.G112V|MARK2_ENST00000413835.2_Missense_Mutation_p.G145V|MARK2_ENST00000377809.4_Missense_Mutation_p.G145V|MARK2_ENST00000425897.2_Missense_Mutation_p.G112V	p.G145V	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			6	1013	+			145			Protein kinase.			Missense_Mutation	SNP	ENST00000509502.2	37	c.434G>T	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	G	32	5.169620	0.94768	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000543220;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.08	5.08	0.68730	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59487	0.2197	M	0.80847	2.515	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.64542	-0.6383	10	0.87932	D	0	.	17.4102	0.87482	0.0:0.0:1.0:0.0	.	112;112;145;145;145;145	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	V	145;145;145;145;112;145;145;145;145;112;112;112;112;112	ENSP00000385751:G145V;ENSP00000326632:G145V;ENSP00000367040:G145V;ENSP00000389184:G145V;ENSP00000367041:G112V;ENSP00000425765:G145V;ENSP00000355091:G145V;ENSP00000294247:G145V;ENSP00000444956:G112V;ENSP00000423974:G112V;ENSP00000421075:G112V;ENSP00000386128:G112V;ENSP00000415494:G112V	ENSP00000326632:G145V	G	+	2	0	MARK2	63422841	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.550000	0.98110	2.634000	0.89283	0.563000	0.77884	GGC		0.527	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		16	41	1	0	1.15088e-07	1	1.24095e-07	16	41				
VEZT	55591	broad.mit.edu	37	12	95676135	95676135	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:95676135G>A	ENST00000436874.1	+	8	1148	c.1043G>A	c.(1042-1044)cGg>cAg	p.R348Q	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.R300Q	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	348					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TTCTTCAGACGGTTAGCCCTA	0.408																																						ENST00000436874.1																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(1042-1044)cGg>cAg		vezatin, adherens junctions transmembrane protein							83.0	78.0	80.0					12																	95676135		1927	4140	6067	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95676135G>A	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.1043G>A	12.37:g.95676135G>A	ENSP00000410083:p.Arg348Gln					VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.R300Q	p.R348Q	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN			8	1148	+			348					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.1043G>A	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	G	36	5.618101	0.96649	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.56611	0.45;0.45;0.45	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.73001	0.3531	M	0.68952	2.095	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.73892	-0.3839	10	0.66056	D	0.02	-28.934	19.8258	0.96617	0.0:0.0:1.0:0.0	.	348	Q9HBM0	VEZA_HUMAN	Q	348;300;304;348	ENSP00000410083:R348Q;ENSP00000261219:R300Q;ENSP00000380894:R304Q	ENSP00000261219:R300Q	R	+	2	0	VEZT	94200266	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	9.441000	0.97557	2.680000	0.91292	0.561000	0.74099	CGG		0.408	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		8	32	0	0	0	1	0	8	32				
GSG2	83903	broad.mit.edu	37	17	3628634	3628634	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr17:3628634C>T	ENST00000325418.4	+	1	1424	c.1405C>T	c.(1405-1407)Cag>Tag	p.Q469*	ITGAE_ENST00000263087.4_Intron|CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	469					histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										GGAATGCAGTCAGAAGGGTCC	0.448																																						ENST00000325418.4																			0											c.(1405-1407)Cag>Tag		germ cell associated 2 (haspin)							62.0	61.0	61.0					17																	3628634		2203	4300	6503	SO:0001587	stop_gained	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3628634C>T	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1405C>T	17.37:g.3628634C>T	ENSP00000325290:p.Gln469*					ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	p.Q469*	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN			1	1424	+			469					Q5U5K3|Q96MN1|Q9BXS7	Nonsense_Mutation	SNP	ENST00000325418.4	37	c.1405C>T	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	C	36	5.743629	0.96873	.	.	ENSG00000177602	ENST00000325418	.	.	.	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-37.0387	16.0321	0.80585	0.0:1.0:0.0:0.0	.	.	.	.	X	469	.	ENSP00000325290:Q469X	Q	+	1	0	GSG2	3575383	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	5.650000	0.67944	2.648000	0.89879	0.655000	0.94253	CAG		0.448	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		9	51	0	0	0	1	0	9	51				
NUDCD3	23386	broad.mit.edu	37	7	44530100	44530100	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr7:44530100G>A	ENST00000355451.7	-	1	379	c.100C>T	c.(100-102)Ctc>Ttc	p.L34F		NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	34										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						TTGCGGTAGAGGAAGCCAAAG	0.647																																						ENST00000355451.6																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(100-102)Ctc>Ttc		NudC domain containing 3							27.0	36.0	33.0					7																	44530100		2058	4212	6270	SO:0001583	missense	23386							g.chr7:44530100G>A	BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676			22208	protein-coding gene	gene with protein product		610296					Standard	NM_015332		Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.100C>T	7.37:g.44530100G>A	ENSP00000347626:p.Leu34Phe						p.L34F	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN			1	379	-			34					Q9BTI3|Q9H7W9|Q9UPT4	Missense_Mutation	SNP	ENST00000355451.7	37	c.100C>T	CCDS5490.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031985	0.75504	.	.	ENSG00000015676	ENST00000355451	D	0.84442	-1.85	4.54	4.54	0.55810	.	0.000000	0.64402	D	0.000003	D	0.93268	0.7855	M	0.90309	3.105	0.54753	D	0.999982	D	0.76494	0.999	D	0.91635	0.999	D	0.94375	0.7599	10	0.87932	D	0	-0.1277	14.4888	0.67637	0.0:0.0:1.0:0.0	.	34	Q8IVD9	NUDC3_HUMAN	F	34	ENSP00000347626:L34F	ENSP00000347626:L34F	L	-	1	0	NUDCD3	44496625	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	2.796000	0.47869	2.487000	0.83934	0.563000	0.77884	CTC		0.647	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251248.3	NM_015332		8	10	0	0	0	1	0	8	10				
CHRDL1	91851	broad.mit.edu	37	X	110002960	110002960	+	Missense_Mutation	SNP	C	C	A	rs149609884		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:110002960C>A	ENST00000372045.1	-	4	343	c.212G>T	c.(211-213)cGa>cTa	p.R71L	CHRDL1_ENST00000372042.1_Missense_Mutation_p.R77L|CHRDL1_ENST00000482160.1_Missense_Mutation_p.R77L|CHRDL1_ENST00000444321.2_Missense_Mutation_p.R77L|CHRDL1_ENST00000394797.4_Missense_Mutation_p.R77L|CHRDL1_ENST00000434224.1_Missense_Mutation_p.R77L|CHRDL1_ENST00000218054.4_Missense_Mutation_p.R77L			Q9BU40	CRDL1_HUMAN	chordin-like 1	71	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.R77Q(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ACATCTGACTCGGCTGCAAAG	0.443																																						ENST00000218054.4																			1	Substitution - Missense(1)	p.R77Q(1)	large_intestine(1)	endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						c.(229-231)cGa>cTa		chordin-like 1							160.0	138.0	145.0					X																	110002960		2203	4300	6503	SO:0001583	missense	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:110002960C>A	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.212G>T	X.37:g.110002960C>A	ENSP00000361115:p.Arg71Leu					CHRDL1_ENST00000444321.2_Missense_Mutation_p.R77L|CHRDL1_ENST00000372042.1_Missense_Mutation_p.R77L|CHRDL1_ENST00000372045.1_Missense_Mutation_p.R71L|CHRDL1_ENST00000394797.4_Missense_Mutation_p.R77L|CHRDL1_ENST00000434224.1_Missense_Mutation_p.R77L|CHRDL1_ENST00000482160.1_Missense_Mutation_p.R77L	p.R77L	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN			4	426	-			71			VWFC 1.		B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Missense_Mutation	SNP	ENST00000372045.1	37	c.230G>T		.	.	.	.	.	.	.	.	.	.	C	23.1	4.377446	0.82682	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	5.45	5.45	0.79879	von Willebrand factor, type C (4);	0.059052	0.64402	D	0.000003	D	0.85418	0.5692	M	0.83774	2.66	0.51012	D	0.999901	B;D;D;D;D;D;D	0.76494	0.001;0.999;0.998;0.997;0.999;0.999;0.991	B;D;D;D;D;D;D	0.85130	0.0;0.997;0.994;0.995;0.997;0.997;0.969	D	0.86254	0.1651	9	.	.	.	-10.5114	17.5649	0.87917	0.0:1.0:0.0:0.0	.	77;77;71;56;71;77;77	B4DMP3;E9PGS5;Q9BU40-2;Q59FB2;Q9BU40;D3DUY6;D3YTA8	.;.;.;.;CRDL1_HUMAN;.;.	L	71;77;77;77;77;77;77	ENSP00000361115:R71L;ENSP00000389627:R77L;ENSP00000218054:R77L;ENSP00000378276:R77L;ENSP00000361112:R77L;ENSP00000418443:R77L;ENSP00000399739:R77L	.	R	-	2	0	CHRDL1	109889616	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.084000	0.64462	2.618000	0.88619	0.600000	0.82982	CGA		0.443	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234		13	128	1	0	7.93312e-07	1	8.3365e-07	13	128				
DENND6A	201627	broad.mit.edu	37	3	57614608	57614608	+	Nonsense_Mutation	SNP	A	A	C			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:57614608A>C	ENST00000311128.5	-	19	1695	c.1625T>G	c.(1624-1626)tTa>tGa	p.L542*	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	542					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										CCAGAGAAGTAAGTCCTAGAA	0.348																																						ENST00000311128.5																			0											c.(1624-1626)tTa>tGa		DENN/MADD domain containing 6A							125.0	121.0	123.0					3																	57614608		2203	4299	6502	SO:0001587	stop_gained	201627							g.chr3:57614608A>C	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1625T>G	3.37:g.57614608A>C	ENSP00000311401:p.Leu542*					RP11-755B10.2_ENST00000470427.1_RNA	p.L542*	NM_152678.2	NP_689891.1					19	1695	-								Q7Z5T4|Q8N235|Q8TEG8	Nonsense_Mutation	SNP	ENST00000311128.5	37	c.1625T>G	CCDS33773.1	.	.	.	.	.	.	.	.	.	.	A	39	7.341937	0.98224	.	.	ENSG00000174839	ENST00000311128	.	.	.	5.35	5.35	0.76521	.	0.068768	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3628	15.3165	0.74085	1.0:0.0:0.0:0.0	.	.	.	.	X	542	.	ENSP00000311401:L542X	L	-	2	0	FAM116A	57589648	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.254000	0.89844	2.025000	0.59659	0.482000	0.46254	TTA		0.348	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678		4	35	0	0	0	1	0	4	35				
LAMA5	3911	broad.mit.edu	37	20	60887781	60887781	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr20:60887781C>T	ENST00000252999.3	-	67	9200	c.9134G>A	c.(9133-9135)cGg>cAg	p.R3045Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3045	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CACCGTGGCCCGCTCCACACG	0.687																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(9133-9135)cGg>cAg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						32.0	32.0	32.0					20																	60887781		2180	4288	6468	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60887781C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.9134G>A	20.37:g.60887781C>T	ENSP00000252999:p.Arg3045Gln						p.R3045Q	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		67	9200	-	Breast(26;1.57e-08)		3045			Laminin G-like 2.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.9134G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	18.40	3.614833	0.66672	.	.	ENSG00000130702	ENST00000252999	T	0.41758	0.99	4.59	4.59	0.56863	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.183785	0.47455	U	0.000224	T	0.35189	0.0923	M	0.68317	2.08	0.38366	D	0.944756	P	0.35348	0.496	B	0.25614	0.062	T	0.38735	-0.9647	10	0.37606	T	0.19	.	9.3755	0.38281	0.0:0.8576:0.0:0.1424	.	3045	O15230	LAMA5_HUMAN	Q	3045	ENSP00000252999:R3045Q	ENSP00000252999:R3045Q	R	-	2	0	LAMA5	60321176	0.045000	0.20229	0.642000	0.29436	0.687000	0.40016	1.268000	0.33062	2.113000	0.64589	0.479000	0.44913	CGG		0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		3	9	0	0	0	1	0	3	9				
PUM2	23369	broad.mit.edu	37	2	20483149	20483149	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr2:20483149T>A	ENST00000361078.2	-	10	1412	c.1390A>T	c.(1390-1392)Atg>Ttg	p.M464L	PUM2_ENST00000338086.5_Missense_Mutation_p.M464L|PUM2_ENST00000319801.5_Missense_Mutation_p.M464L|PUM2_ENST00000536417.1_Missense_Mutation_p.M408L|PUM2_ENST00000403432.1_Missense_Mutation_p.M464L			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	464	Ala-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTGGAGCCATTAACCGAACT	0.443																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(1390-1392)Atg>Ttg		pumilio RNA-binding family member 2							85.0	84.0	84.0					2																	20483149		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20483149T>A	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1390A>T	2.37:g.20483149T>A	ENSP00000354370:p.Met464Leu					PUM2_ENST00000536417.1_Missense_Mutation_p.M408L|PUM2_ENST00000319801.5_Missense_Mutation_p.M464L|PUM2_ENST00000338086.5_Missense_Mutation_p.M464L|PUM2_ENST00000403432.1_Missense_Mutation_p.M464L	p.M464L			Q8TB72	PUM2_HUMAN			10	1412	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		464			Ala-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.1390A>T		.	.	.	.	.	.	.	.	.	.	T	17.05	3.290078	0.59976	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.16324	2.36;2.62;2.67;2.38;2.36;2.35	6.16	5.04	0.67666	.	0.046616	0.85682	D	0.000000	T	0.08133	0.0203	N	0.19112	0.55	0.31465	N	0.669139	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.08055	0.001;0.001;0.003	T	0.23511	-1.0186	10	0.10902	T	0.67	-7.9308	3.5276	0.07765	0.0:0.2969:0.0:0.7031	.	408;464;464	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	L	464;464;464;355;464;408	ENSP00000338173:M464L;ENSP00000354370:M464L;ENSP00000326746:M464L;ENSP00000409905:M355L;ENSP00000385992:M464L;ENSP00000440093:M408L	ENSP00000326746:M464L	M	-	1	0	PUM2	20346630	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.689000	0.54706	2.367000	0.80283	0.528000	0.53228	ATG		0.443	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		27	29	0	0	0	1	0	27	29				
P2RX2	22953	broad.mit.edu	37	12	133197147	133197147	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:133197147G>A	ENST00000389110.3	+	7	789	c.752G>A	c.(751-753)aGc>aAc	p.S251N	P2RX2_ENST00000350048.5_Missense_Mutation_p.S227N|P2RX2_ENST00000449132.2_Silent_p.E215E|P2RX2_ENST00000351222.4_Missense_Mutation_p.S159N|P2RX2_ENST00000343948.4_Missense_Mutation_p.S251N|P2RX2_ENST00000348800.5_Missense_Mutation_p.S251N|P2RX2_ENST00000352418.4_Missense_Mutation_p.S179N	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	251					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		GCTGGGGAGAGCTTCACAGAG	0.647																																						ENST00000389110.3																			0				NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20						c.(751-753)aGc>aAc		purinergic receptor P2X, ligand-gated ion channel, 2							64.0	59.0	61.0					12																	133197147		2203	4300	6503	SO:0001583	missense	22953				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr12:133197147G>A	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	15459	protein-coding gene	gene with protein product		600844	"""deafness, autosomal dominant 41"""	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.752G>A	12.37:g.133197147G>A	ENSP00000373762:p.Ser251Asn					P2RX2_ENST00000352418.4_Missense_Mutation_p.S179N|P2RX2_ENST00000343948.4_Missense_Mutation_p.S251N|P2RX2_ENST00000351222.4_Missense_Mutation_p.S159N|P2RX2_ENST00000350048.5_Missense_Mutation_p.S227N|P2RX2_ENST00000449132.2_Silent_p.E215E|P2RX2_ENST00000348800.5_Missense_Mutation_p.S251N	p.S251N	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)	7	789	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)	251					A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP	ENST00000389110.3	37	c.752G>A	CCDS31931.1	.	.	.	.	.	.	.	.	.	.	G	0.166	-1.075833	0.01903	.	.	ENSG00000187848	ENST00000389110;ENST00000343948;ENST00000352418;ENST00000350048;ENST00000351222;ENST00000348800	T;T;T;T;T;T	0.04015	3.73;3.73;3.73;3.73;3.73;3.73	5.48	4.34	0.51931	.	0.248977	0.44483	N	0.000455	T	0.01421	0.0046	N	0.00729	-1.24	0.22620	N	0.998927	B;B;B;B;B;B;B	0.09022	0.001;0.002;0.002;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B	0.08055	0.003;0.001;0.002;0.003;0.003;0.001;0.001	T	0.45600	-0.9250	10	0.06891	T	0.86	-42.9688	9.7853	0.40673	0.9158:0.0:0.0842:0.0	.	251;159;179;227;251;251;251	Q32MC3;Q9UBL9-5;Q9UBL9-6;Q9UBL9-3;Q9UBL9-4;Q9UBL9;Q9UBL9-2	.;.;.;.;.;P2RX2_HUMAN;.	N	251;251;179;227;159;251	ENSP00000373762:S251N;ENSP00000343339:S251N;ENSP00000341419:S179N;ENSP00000343904:S227N;ENSP00000344502:S159N;ENSP00000345095:S251N	ENSP00000343339:S251N	S	+	2	0	P2RX2	131707220	1.000000	0.71417	1.000000	0.80357	0.132000	0.20833	4.016000	0.57159	0.934000	0.37316	-0.378000	0.06908	AGC		0.647	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1			11	78	0	0	0	1	0	11	78				
TBX19	9095	broad.mit.edu	37	1	168269713	168269713	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr1:168269713A>T	ENST00000367821.3	+	5	770	c.719A>T	c.(718-720)tAt>tTt	p.Y240F		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	240					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CATGTGACCTATTCTCACTGT	0.507																																						ENST00000367821.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34						c.(718-720)tAt>tTt		T-box 19							117.0	99.0	106.0					1																	168269713		2203	4300	6503	SO:0001583	missense	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168269713A>T	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.719A>T	1.37:g.168269713A>T	ENSP00000356795:p.Tyr240Phe						p.Y240F	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN			5	770	+	all_hematologic(923;0.215)		240					Q52M53	Missense_Mutation	SNP	ENST00000367821.3	37	c.719A>T	CCDS1272.1	.	.	.	.	.	.	.	.	.	.	A	10.93	1.491025	0.26774	.	.	ENSG00000143178	ENST00000367821;ENST00000367828	D	0.84589	-1.87	5.13	3.99	0.46301	.	0.534956	0.18351	N	0.143861	T	0.63640	0.2528	L	0.52206	1.635	0.31746	N	0.635177	B;B	0.25441	0.024;0.126	B;B	0.16289	0.008;0.015	T	0.43523	-0.9386	9	0.23302	T	0.38	.	7.9379	0.29941	0.8036:0.0:0.0729:0.1236	.	240;171	O60806;B3KRD9	TBX19_HUMAN;.	F	240;180	ENSP00000356795:Y240F	ENSP00000356795:Y240F	Y	+	2	0	TBX19	166536337	0.984000	0.35163	0.969000	0.41365	0.508000	0.34012	2.715000	0.47210	0.265000	0.21872	-1.162000	0.01777	TAT		0.507	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		7	15	0	0	0	1	0	7	15				
MYO1D	4642	broad.mit.edu	37	17	30981575	30981575	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr17:30981575C>T	ENST00000318217.5	-	18	2714	c.2410G>A	c.(2410-2412)Gtt>Att	p.V804I	MYO1D_ENST00000579584.1_Missense_Mutation_p.V804I|MYO1D_ENST00000394649.4_Missense_Mutation_p.V716I|RP11-220C2.1_ENST00000582272.1_RNA	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	804	Myosin tail. {ECO:0000255}.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACGGCTGCAACCTTTGCCCTG	0.517																																						ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2410-2412)Gtt>Att		myosin ID							71.0	70.0	70.0					17																	30981575		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:30981575C>T	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2410G>A	17.37:g.30981575C>T	ENSP00000324527:p.Val804Ile					MYO1D_ENST00000394649.4_Missense_Mutation_p.V716I|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Missense_Mutation_p.V804I	p.V804I	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		18	2714	-			804					A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.2410G>A	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.208064	0.58343	.	.	ENSG00000176658	ENST00000318217	T	0.37584	1.19	5.5	5.5	0.81552	Myosin tail 2 (1);	0.000000	0.35677	U	0.003054	T	0.30978	0.0782	L	0.31207	0.915	0.80722	D	1	B;B	0.26935	0.164;0.164	B;B	0.33196	0.159;0.159	T	0.06075	-1.0847	10	0.15066	T	0.55	.	17.2555	0.87055	0.0:1.0:0.0:0.0	.	715;804	Q7Z3N6;O94832	.;MYO1D_HUMAN	I	804	ENSP00000324527:V804I	ENSP00000324527:V804I	V	-	1	0	MYO1D	28005688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.372000	0.79612	2.735000	0.93741	0.655000	0.94253	GTT		0.517	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			16	39	0	0	0	1	0	16	39				
GRM2	2912	broad.mit.edu	37	3	51747075	51747075	+	Missense_Mutation	SNP	G	G	A	rs200432452		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:51747075G>A	ENST00000395052.3	+	3	1271	c.1037G>A	c.(1036-1038)cGt>cAt	p.R346H	GRM2_ENST00000442933.2_Missense_Mutation_p.R346H|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	346					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCTGGTTCCGTGAATTCTGG	0.602																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1036-1038)cGt>cAt		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						40.0	38.0	38.0					3																	51747075		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51747075G>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1037G>A	3.37:g.51747075G>A	ENSP00000378492:p.Arg346His					GRM2_ENST00000442933.2_Missense_Mutation_p.R346H|GRM2_ENST00000475478.1_Intron	p.R346H	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	1271	+			346					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.1037G>A	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108187	0.77096	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.86432	-2.12;-2.12	4.95	4.95	0.65309	Extracellular ligand-binding receptor (1);	0.052902	0.85682	D	0.000000	D	0.92509	0.7621	M	0.72118	2.19	0.80722	D	1	D	0.67145	0.996	D	0.65140	0.932	D	0.92770	0.6231	10	0.54805	T	0.06	.	18.5605	0.91098	0.0:0.0:1.0:0.0	.	346	Q14416	GRM2_HUMAN	H	346	ENSP00000378492:R346H;ENSP00000408906:R346H	ENSP00000296479:R346H	R	+	2	0	GRM2	51722115	1.000000	0.71417	0.994000	0.49952	0.805000	0.45488	6.571000	0.74000	2.485000	0.83878	0.555000	0.69702	CGT		0.602	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			8	42	0	0	0	1	0	8	42				
TBC1D15	64786	broad.mit.edu	37	12	72289857	72289857	+	Splice_Site	SNP	T	T	C			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:72289857T>C	ENST00000550746.1	+	9	1099		c.e9+2		TBC1D15_ENST00000393309.3_Splice_Site|TBC1D15_ENST00000319106.8_Splice_Site|TBC1D15_ENST00000485960.2_Splice_Site	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15						positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTTAGAGGGGTAATTTAAACA	0.328																																						ENST00000550746.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e9+2		TBC1 domain family, member 15							54.0	59.0	57.0					12																	72289857		2203	4297	6500	SO:0001630	splice_region_variant	64786						protein binding|Rab GTPase activator activity	g.chr12:72289857T>C	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1035+2T>C	12.37:g.72289857T>C						TBC1D15_ENST00000485960.2_Splice_Site|TBC1D15_ENST00000319106.8_Splice_Site|TBC1D15_ENST00000393309.3_Splice_Site		NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN			9	1099	+								B4DMT9|B9A6L6|J3KNI9|Q9HA83	Splice_Site	SNP	ENST00000550746.1	37		CCDS31858.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.270241	0.80469	.	.	ENSG00000121749	ENST00000550746;ENST00000491063;ENST00000319106;ENST00000485960;ENST00000393309	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0225	0.80509	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBC1D15	70576124	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.069000	0.76755	2.174000	0.68829	0.533000	0.62120	.		0.328	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771	Intron	10	38	0	0	0	1	0	10	38				
GLIPR1L2	144321	broad.mit.edu	37	12	75804313	75804313	+	Missense_Mutation	SNP	A	A	G	rs150816381		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:75804313A>G	ENST00000550916.1	+	2	381	c.334A>G	c.(334-336)Aaa>Gaa	p.K112E	GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.K112E|GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.K5E|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.K47E|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.K112E|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.K112E	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	112	SCP.					integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						GGTCCATCCTAAATTTTATGG	0.363													A|||	1	0.000199681	0.0	0.0014	5008	,	,		14536	0.0		0.0	False		,,,				2504	0.0					ENST00000550916.1																			0				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(334-336)Aaa>Gaa		GLI pathogenesis-related 1 like 2		A	GLU/LYS	3,4403	6.2+/-15.9	0,3,2200	85.0	85.0	85.0		334	-1.0	0.1	12	dbSNP_134	85	0,8598		0,0,4299	yes	missense	GLIPR1L2	NM_152436.1	56	0,3,6499	GG,GA,AA		0.0,0.0681,0.0231	benign	112/254	75804313	3,13001	2203	4299	6502	SO:0001583	missense	144321					integral to membrane		g.chr12:75804313A>G	BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.334A>G	12.37:g.75804313A>G	ENSP00000448248:p.Lys112Glu					GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.K112E|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.K112E|GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.K5E|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.K112E|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.K47E	p.K112E	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN			2	381	+			112					Q6MZS1|Q8N6N0|Q8NA43	Missense_Mutation	SNP	ENST00000550916.1	37	c.334A>G	CCDS58258.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	A	10.95	1.497061	0.26861	6.81E-4	0.0	ENSG00000180481	ENST00000550916;ENST00000435775;ENST00000378692;ENST00000320460;ENST00000547164;ENST00000441218	T;T;T;T;T;T	0.08634	3.19;3.19;3.07;3.19;3.19;3.19	4.91	-1.04	0.10068	CAP domain (3);	1.527810	0.03962	N	0.290265	T	0.06280	0.0162	L	0.31664	0.95	0.09310	N	1	B;B	0.33413	0.411;0.356	B;B	0.37731	0.257;0.236	T	0.29671	-1.0004	10	0.02654	T	1	.	4.9834	0.14178	0.5185:0.1531:0.3284:0.0	.	112;112	Q4G1C9;Q4G1C9-2	GRPL2_HUMAN;.	E	112;112;5;112;112;47	ENSP00000448248:K112E;ENSP00000398328:K112E;ENSP00000367963:K5E;ENSP00000317385:K112E;ENSP00000447980:K112E;ENSP00000405273:K47E	ENSP00000317385:K112E	K	+	1	0	GLIPR1L2	74090580	0.004000	0.15560	0.099000	0.21106	0.914000	0.54420	-0.210000	0.09345	-0.050000	0.13356	0.397000	0.26171	AAA		0.363	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405718.1	NM_152436		18	37	0	0	0	1	0	18	37				
KRT75	9119	broad.mit.edu	37	12	52825420	52825420	+	Silent	SNP	G	G	A	rs373953042		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:52825420G>A	ENST00000252245.5	-	4	997	c.777C>T	c.(775-777)gaC>gaT	p.D259D		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	259	Coil 1B.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CAGCATCTACGTCCTGGAATG	0.498																																						ENST00000252245.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28						c.(775-777)gaC>gaT		keratin 75		G		0,4406		0,0,2203	143.0	123.0	130.0		777	-12.1	0.1	12		130	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT75	NM_004693.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		259/552	52825420	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9119					keratin filament	structural molecule activity	g.chr12:52825420G>A	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.777C>T	12.37:g.52825420G>A							p.D259D	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	4	997	-			259			Coil 1B.|Rod.		B4DQU4|Q9NSA9	Silent	SNP	ENST00000252245.5	37	c.777C>T	CCDS8827.1																																																																																				0.498	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		15	47	0	0	0	1	0	15	47				
CHFR	55743	broad.mit.edu	37	12	133423707	133423707	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:133423707C>T	ENST00000432561.2	-	15	1766	c.1693G>A	c.(1693-1695)Gca>Aca	p.A565T	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000541341.1_5'UTR|CHFR_ENST00000266880.7_Missense_Mutation_p.A564T|CHFR_ENST00000443047.2_Missense_Mutation_p.A473T|CHFR_ENST00000450056.2_Missense_Mutation_p.A553T|CHFR_ENST00000315585.7_Missense_Mutation_p.A524T|CHFR_ENST00000537522.1_Missense_Mutation_p.A187T			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	565					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CCTCTGGTTGCCAGGTAATTC	0.448																																						ENST00000266880.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1690-1692)Gca>Aca		checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase							87.0	90.0	89.0					12																	133423707		2203	4300	6503	SO:0001583	missense	55743				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:133423707C>T	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.1693G>A	12.37:g.133423707C>T	ENSP00000392395:p.Ala565Thr					CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000315585.7_Missense_Mutation_p.A524T|CHFR_ENST00000450056.2_Missense_Mutation_p.A553T|CHFR_ENST00000541341.1_5'UTR|CHFR_ENST00000432561.2_Missense_Mutation_p.A565T|CHFR_ENST00000443047.2_Missense_Mutation_p.A473T|CHFR_ENST00000537522.1_Missense_Mutation_p.A187T	p.A564T			Q96EP1	CHFR_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)	16	1753	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)	565					A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	ENST00000432561.2	37	c.1690G>A	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935404	0.52866	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000537522;ENST00000432561	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	5.64	3.8	0.43715	.	0.112511	0.64402	N	0.000009	T	0.26593	0.0650	L	0.48642	1.525	0.47009	D	0.999281	B;B;B;B;B	0.16396	0.002;0.017;0.01;0.017;0.01	B;B;B;B;B	0.24974	0.008;0.057;0.025;0.057;0.024	T	0.04333	-1.0959	10	0.11794	T	0.64	-17.4786	12.8169	0.57671	0.0:0.8647:0.0:0.1353	.	473;564;565;553;524	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	T	524;473;553;564;187;565	ENSP00000320557:A524T;ENSP00000416431:A473T;ENSP00000398735:A553T;ENSP00000266880:A564T;ENSP00000442327:A187T;ENSP00000392395:A565T	ENSP00000266880:A564T	A	-	1	0	CHFR	131933780	1.000000	0.71417	0.997000	0.53966	0.928000	0.56348	1.726000	0.38085	0.721000	0.32231	0.561000	0.74099	GCA		0.448	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2			25	59	0	0	0	1	0	25	59				
DBR1	51163	broad.mit.edu	37	3	137893475	137893475	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:137893475G>A	ENST00000260803.4	-	1	316	c.163C>T	c.(163-165)Ccg>Tcg	p.P55S	DBR1_ENST00000505015.2_5'UTR|DBR1_ENST00000463982.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	55					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TACTTGGGCGGCACGGCCATG	0.697																																						ENST00000260803.4																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(163-165)Ccg>Tcg		debranching RNA lariats 1							29.0	26.0	27.0					3																	137893475		2202	4298	6500	SO:0001583	missense	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137893475G>A	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.163C>T	3.37:g.137893475G>A	ENSP00000260803:p.Pro55Ser					DBR1_ENST00000463982.2_5'UTR|DBR1_ENST00000505015.2_5'UTR	p.P55S	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN			1	316	-			55					Q96GH0|Q9NXQ6	Missense_Mutation	SNP	ENST00000260803.4	37	c.163C>T	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090386	0.94149	.	.	ENSG00000138231	ENST00000260803	T	0.34072	1.38	5.26	5.26	0.73747	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.63698	0.2533	M	0.85777	2.775	0.80722	D	1	D	0.69078	0.997	D	0.68943	0.961	T	0.67608	-0.5627	10	0.56958	D	0.05	-2.1385	16.4199	0.83754	0.0:0.0:1.0:0.0	.	55	Q9UK59	DBR1_HUMAN	S	55	ENSP00000260803:P55S	ENSP00000260803:P55S	P	-	1	0	DBR1	139376165	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	7.375000	0.79646	2.741000	0.93983	0.557000	0.71058	CCG		0.697	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			3	17	0	0	0	1	0	3	17				
PLCB1	23236	broad.mit.edu	37	20	8130994	8130994	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr20:8130994C>G	ENST00000338037.6	+	2	180	c.153C>G	c.(151-153)ttC>ttG	p.F51L	PLCB1_ENST00000378641.3_Missense_Mutation_p.F51L|PLCB1_ENST00000378637.2_Missense_Mutation_p.F51L	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	51					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGGGATTTTTCTTTTACTGGA	0.313																																						ENST00000378641.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(151-153)ttC>ttG		phospholipase C, beta 1 (phosphoinositide-specific)							78.0	78.0	78.0					20																	8130994		2203	4291	6494	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8130994C>G	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.153C>G	20.37:g.8130994C>G	ENSP00000338185:p.Phe51Leu					PLCB1_ENST00000338037.6_Missense_Mutation_p.F51L|PLCB1_ENST00000378637.2_Missense_Mutation_p.F51L	p.F51L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN			2	628	+			51					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.153C>G	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951311	0.73787	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.73063	0.3539	M	0.86097	2.795	0.54753	D	0.999988	B;P;D	0.65815	0.021;0.89;0.995	B;B;D	0.74674	0.01;0.337;0.984	T	0.75513	-0.3291	10	0.56958	D	0.05	.	18.5213	0.90954	0.0:1.0:0.0:0.0	.	51;51;50	Q9NQ66;Q9NQ66-2;B1AK73	PLCB1_HUMAN;.;.	L	51;51;51;50	ENSP00000367908:F51L;ENSP00000338185:F51L;ENSP00000367904:F51L;ENSP00000384001:F50L	ENSP00000338185:F51L	F	+	3	2	PLCB1	8078994	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.576000	0.67437	2.715000	0.92844	0.561000	0.74099	TTC		0.313	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			4	44	0	0	0	1	0	4	44				
TTN	7273	broad.mit.edu	37	2	179403801	179403801	+	Missense_Mutation	SNP	G	G	T	rs372126622		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr2:179403801G>T	ENST00000591111.1	-	303	94162	c.93938C>A	c.(93937-93939)aCc>aAc	p.T31313N	TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T30386N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T32954N|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T24081N|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T23889N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T24014N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000450692.2_RNA			Q8WZ42	TITIN_HUMAN	titin	31313	Fibronectin type-III 128. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			GTACATTGTGGTGGTGATCTG	0.502																																						ENST00000589042.1																			0				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						c.(98860-98862)aCc>aAc		titin							232.0	244.0	240.0					2																	179403801		2161	4242	6403	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179403801G>T	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.93938C>A	2.37:g.179403801G>T	ENSP00000465570:p.Thr31313Asn					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T30386N|TTN_ENST00000460472.2_Missense_Mutation_p.T23889N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T31313N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T24081N|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T24014N	p.T32954N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		353	99085	-			31313					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.98861C>A		.	.	.	.	.	.	.	.	.	.	G	19.25	3.791230	0.70452	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	6.06	6.06	0.98353	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65565	0.2703	L	0.28740	0.885	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.66512	-0.5905	9	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	23889;24014;24081;31313	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	30386;23889;24081;24014;23886	ENSP00000343764:T30386N;ENSP00000434586:T23889N;ENSP00000340554:T24081N;ENSP00000352154:T24014N	ENSP00000340554:T24081N	T	-	2	0	TTN	179112047	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	ACC		0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	32	1	0	0.014758	1	0.014758	5	32				
TBCE	6905	broad.mit.edu	37	1	235606175	235606175	+	Missense_Mutation	SNP	A	A	G	rs550575040		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr1:235606175A>G	ENST00000366601.3	+	15	1524	c.1348A>G	c.(1348-1350)Ata>Gta	p.I450V	TBCE_ENST00000543662.1_Missense_Mutation_p.I501V|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Missense_Mutation_p.I450V			Q15813	TBCE_HUMAN	tubulin folding cofactor E	450				I -> V (in Ref. 3; BAF84976). {ECO:0000305}.	'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			AGCACTGAAGATAAAATACCC	0.363													A|||	1	0.000199681	0.0	0.0	5008	,	,		16118	0.001		0.0	False		,,,				2504	0.0					ENST00000543662.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14						c.(1501-1503)Ata>Gta		tubulin folding cofactor E							69.0	71.0	70.0					1																	235606175		2203	4300	6503	SO:0001583	missense	6905				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding	g.chr1:235606175A>G	U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"""tubulin-specific chaperone e"", ""Kenny-Caffey syndrome"", ""hypoparathyroidism, growth and mental retardation, and dysmorphism"""	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.1348A>G	1.37:g.235606175A>G	ENSP00000355560:p.Ile450Val					TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Missense_Mutation_p.I450V|TBCE_ENST00000366601.3_Missense_Mutation_p.I450V	p.I501V			Q15813	TBCE_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)		16	1607	+	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	450					A8K8C2|B7Z3P1	Missense_Mutation	SNP	ENST00000366601.3	37	c.1501A>G	CCDS1605.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.470764	0.43942	.	.	ENSG00000116957	ENST00000366601;ENST00000406207;ENST00000543662	T;T;T	0.07567	3.18;3.18;3.18	5.36	5.36	0.76844	.	0.044308	0.85682	D	0.000000	T	0.11024	0.0269	M	0.64260	1.97	0.48341	D	0.999632	B;B	0.25904	0.009;0.137	B;B	0.26310	0.023;0.068	T	0.08868	-1.0701	10	0.21014	T	0.42	-26.7782	12.8609	0.57913	1.0:0.0:0.0:0.0	.	501;450	B7Z3P1;Q15813	.;TBCE_HUMAN	V	450;450;501	ENSP00000355560:I450V;ENSP00000384571:I450V;ENSP00000439170:I501V	ENSP00000355560:I450V	I	+	1	0	TBCE	233672798	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.395000	0.52558	2.246000	0.74042	0.533000	0.62120	ATA		0.363	TBCE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096458.3	NM_003193		5	16	0	0	0	1	0	5	16				
UTRN	7402	broad.mit.edu	37	6	144852227	144852227	+	Missense_Mutation	SNP	T	T	A	rs116608682	byFrequency	TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr6:144852227T>A	ENST00000367545.3	+	41	5946	c.5946T>A	c.(5944-5946)caT>caA	p.H1982Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1982					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GACAGTTCCATTGTGACCTTA	0.438																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(5944-5946)caT>caA		utrophin							121.0	101.0	108.0					6																	144852227		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144852227T>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5946T>A	6.37:g.144852227T>A	ENSP00000356515:p.His1982Gln						p.H1982Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	41	5946	+		Ovarian(120;0.218)	1982					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.5946T>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.000405	0.35320	.	.	ENSG00000152818	ENST00000367545	T	0.46451	0.87	5.42	-5.84	0.02318	.	0.000000	0.51477	D	0.000092	T	0.21347	0.0514	L	0.39566	1.225	0.80722	D	1	P	0.43885	0.82	P	0.49665	0.618	T	0.33111	-0.9881	10	0.31617	T	0.26	.	10.1985	0.43069	0.0989:0.2432:0.0:0.6579	.	1982	P46939	UTRO_HUMAN	Q	1982	ENSP00000356515:H1982Q	ENSP00000356515:H1982Q	H	+	3	2	UTRN	144893920	0.635000	0.27199	0.328000	0.25416	0.863000	0.49368	-0.157000	0.10085	-0.637000	0.05516	-1.039000	0.02377	CAT		0.438	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			8	18	0	0	0	1	0	8	18				
PCDH10	57575	broad.mit.edu	37	4	134073831	134073831	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr4:134073831A>G	ENST00000264360.5	+	1	3362	c.2536A>G	c.(2536-2538)Acg>Gcg	p.T846A		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	846					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TTCGCGGAGTACGGACACTGA	0.562																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2536-2538)Acg>Gcg		protocadherin 10							89.0	81.0	83.0					4																	134073831		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073831A>G	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2536A>G	4.37:g.134073831A>G	ENSP00000264360:p.Thr846Ala						p.T846A	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3362	+			846					Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2536A>G	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	A	10.03	1.238740	0.22711	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.50277	0.75	5.13	-0.647	0.11468	.	0.146056	0.31784	N	0.007067	T	0.19967	0.0480	N	0.16656	0.425	0.49051	D	0.999745	B;B	0.06786	0.001;0.001	B;B	0.10450	0.001;0.005	T	0.11567	-1.0582	10	0.07644	T	0.81	.	2.3053	0.04173	0.6019:0.1298:0.1435:0.1248	.	846;846	Q9P2E7;Q96SF0	PCD10_HUMAN;.	A	846	ENSP00000264360:T846A	ENSP00000264360:T846A	T	+	1	0	PCDH10	134293281	0.909000	0.30893	0.994000	0.49952	0.917000	0.54804	1.449000	0.35123	-0.014000	0.14175	-0.341000	0.08007	ACG		0.562	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		12	32	0	0	0	1	0	12	32				
EPPK1	83481	broad.mit.edu	37	8	144942424	144942424	+	Silent	SNP	G	G	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr8:144942424G>T	ENST00000525985.1	-	2	5069	c.4998C>A	c.(4996-4998)gcC>gcA	p.A1666A				P58107	EPIPL_HUMAN	epiplakin 1	1666						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTTCTGCATGGCCTGGAAGA	0.662																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4996-4998)gcC>gcA		epiplakin 1							61.0	67.0	65.0					8																	144942424		1992	4135	6127	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144942424G>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4998C>A	8.37:g.144942424G>T							p.A1666A			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	5069	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1666					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.4998C>A																																																																																					0.662	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		43	96	1	0	1.00953e-15	1	1.12776e-15	43	96				
TLR10	81793	broad.mit.edu	37	4	38777143	38777143	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr4:38777143C>G	ENST00000308973.4	-	4	674	c.69G>C	c.(67-69)gaG>gaC	p.E23D	TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000506111.1_Missense_Mutation_p.E23D|TLR10_ENST00000508334.1_Missense_Mutation_p.E23D|TLR10_ENST00000361424.2_Missense_Mutation_p.E23D	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	23					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CTTCTGGCAGCTCTGGAGCAT	0.428																																						ENST00000308973.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						c.(67-69)gaG>gaC		toll-like receptor 10							85.0	80.0	82.0					4																	38777143		2203	4300	6503	SO:0001583	missense	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38777143C>G	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.69G>C	4.37:g.38777143C>G	ENSP00000308925:p.Glu23Asp					TLR10_ENST00000506111.1_Missense_Mutation_p.E23D|TLR10_ENST00000508334.1_Missense_Mutation_p.E23D|TLR10_ENST00000361424.2_Missense_Mutation_p.E23D	p.E23D	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN			4	674	-			23					A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	c.69G>C	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	C	8.155	0.788251	0.16258	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334;ENST00000502321	T;T;T;T;T	0.50277	2.63;2.63;2.63;2.63;0.75	4.61	-1.61	0.08399	.	0.761042	0.10986	N	0.612162	T	0.29126	0.0724	N	0.19112	0.55	0.09310	N	1	B	0.23591	0.088	B	0.25759	0.063	T	0.26985	-1.0087	10	0.87932	D	0	.	6.077	0.19921	0.0:0.4714:0.1256:0.403	.	23	Q9BXR5	TLR10_HUMAN	D	23;23;23;23;9	ENSP00000308925:E23D;ENSP00000421483:E23D;ENSP00000354459:E23D;ENSP00000424923:E23D;ENSP00000427606:E9D	ENSP00000308925:E23D	E	-	3	2	TLR10	38453538	0.009000	0.17119	0.018000	0.16275	0.169000	0.22640	0.000000	0.12993	-0.321000	0.08627	-0.136000	0.14681	GAG		0.428	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			11	36	0	0	0	1	0	11	36				
EPRS	2058	broad.mit.edu	37	1	220156621	220156621	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr1:220156621T>A	ENST00000366923.3	-	22	3479	c.3210A>T	c.(3208-3210)aaA>aaT	p.K1070N		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1070	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	CAACACCAAGTTTCTTGATCT	0.433																																						ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(3208-3210)aaA>aaT		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						87.0	90.0	89.0					1																	220156621		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220156621T>A	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.3210A>T	1.37:g.220156621T>A	ENSP00000355890:p.Lys1070Asn						p.K1070N	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	22	3479	-			1070			Prolyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.3210A>T	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.997207	0.74818	.	.	ENSG00000136628	ENST00000366923	T	0.33216	1.42	5.71	0.472	0.16758	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.49898	0.1584	M	0.81179	2.53	0.51767	D	0.999937	D	0.63046	0.992	D	0.65684	0.937	T	0.45571	-0.9252	10	0.54805	T	0.06	-27.8913	9.404	0.38451	0.0:0.4221:0.0:0.5779	.	1070	P07814	SYEP_HUMAN	N	1070	ENSP00000355890:K1070N	ENSP00000355890:K1070N	K	-	3	2	EPRS	218223244	0.998000	0.40836	0.997000	0.53966	0.987000	0.75469	0.445000	0.21677	-0.156000	0.11079	0.533000	0.62120	AAA		0.433	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		14	54	0	0	0	1	0	14	54				
LPHN1	22859	broad.mit.edu	37	19	14273468	14273468	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr19:14273468T>C	ENST00000340736.6	-	6	1457	c.1160A>G	c.(1159-1161)tAt>tGt	p.Y387C	LPHN1_ENST00000591528.1_5'Flank|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.Y382C	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	387	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CACCACGAAATAGTTGTTCCA	0.607																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1159-1161)tAt>tGt		latrophilin 1							140.0	122.0	128.0					19																	14273468		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14273468T>C	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.1160A>G	19.37:g.14273468T>C	ENSP00000340688:p.Tyr387Cys					LPHN1_ENST00000361434.3_Missense_Mutation_p.Y382C|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA	p.Y387C	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			6	1457	-			387			Olfactomedin-like.		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.1160A>G	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.740606	0.49045	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	D;D	0.90197	-2.63;-2.63	5.06	5.06	0.68205	Olfactomedin-like (3);	0.000000	0.64402	D	0.000001	D	0.93963	0.8067	M	0.66939	2.045	0.49798	D	0.99982	D;D	0.76494	0.998;0.999	D;D	0.73708	0.951;0.981	D	0.94157	0.7411	10	0.59425	D	0.04	.	12.7566	0.57339	0.0:0.0:0.0:1.0	.	382;387	O94910-2;O94910	.;LPHN1_HUMAN	C	387;382	ENSP00000340688:Y387C;ENSP00000355328:Y382C	ENSP00000340688:Y387C	Y	-	2	0	LPHN1	14134468	1.000000	0.71417	0.996000	0.52242	0.724000	0.41520	2.583000	0.46094	1.892000	0.54788	0.459000	0.35465	TAT		0.607	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		18	115	0	0	0	1	0	18	115				
DNAJC21	134218	broad.mit.edu	37	5	34945854	34945854	+	Intron	SNP	A	A	G			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr5:34945854A>G	ENST00000342382.4	+	9	1369				DNAJC21_ENST00000303525.7_Missense_Mutation_p.I390M|DNAJC21_ENST00000382021.2_Intron			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21						protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TTCGATTTATATTTGCTCTTA	0.294																																						ENST00000303525.7																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1168-1170)atA>atG		DnaJ (Hsp40) homolog, subfamily C, member 21							86.0	95.0	92.0					5																	34945854		2201	4298	6499	SO:0001627	intron_variant	134218				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	g.chr5:34945854A>G		CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1143-12A>G	5.37:g.34945854A>G						DNAJC21_ENST00000342382.4_Intron|DNAJC21_ENST00000382021.2_Intron	p.I390M	NM_001012339.2	NP_001012339.2	Q5F1R6	DJC21_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		9	1397	+	all_lung(31;7.08e-05)		381			Poly-Lys.		Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	ENST00000342382.4	37	c.1170A>G	CCDS34144.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.301813	0.40694	.	.	ENSG00000168724	ENST00000303525	T	0.43294	0.95	5.87	-8.21	0.01041	.	.	.	.	.	T	0.23289	0.0563	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.32666	-0.9898	8	0.46703	T	0.11	.	6.9326	0.24449	0.196:0.0:0.4643:0.3397	.	390	Q5F1R6-3	.	M	390	ENSP00000306289:I390M	ENSP00000306289:I390M	I	+	3	3	DNAJC21	34981611	0.042000	0.20092	0.195000	0.23364	0.980000	0.70556	-0.656000	0.05342	-1.015000	0.03375	-0.336000	0.08194	ATA		0.294	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283		9	61	0	0	0	1	0	9	61				
INPPL1	3636	broad.mit.edu	37	11	71939816	71939816	+	Missense_Mutation	SNP	C	C	T	rs201045134		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:71939816C>T	ENST00000298229.2	+	4	647	c.443C>T	c.(442-444)aCc>aTc	p.T148I	INPPL1_ENST00000538751.1_5'UTR|INPPL1_ENST00000541756.1_5'UTR	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	148					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCTGGCTCCACCAGCATTTCT	0.662																																						ENST00000298229.2																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(442-444)aCc>aTc		inositol polyphosphate phosphatase-like 1							34.0	43.0	40.0					11																	71939816		2200	4293	6493	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71939816C>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.443C>T	11.37:g.71939816C>T	ENSP00000298229:p.Thr148Ile					INPPL1_ENST00000538751.1_5'UTR|INPPL1_ENST00000541756.1_5'UTR	p.T148I	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN			4	647	+			148					B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.443C>T	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	c	14.41	2.527793	0.44969	.	.	ENSG00000165458	ENST00000298229	D	0.92099	-2.97	4.58	4.58	0.56647	.	0.260386	0.32518	N	0.005996	D	0.89136	0.6629	L	0.44542	1.39	0.80722	D	1	P	0.50617	0.937	P	0.46110	0.504	D	0.86868	0.2034	10	0.25106	T	0.35	.	12.7248	0.57164	0.0:1.0:0.0:0.0	.	148	O15357	SHIP2_HUMAN	I	148	ENSP00000298229:T148I	ENSP00000298229:T148I	T	+	2	0	INPPL1	71617464	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.924000	0.40065	2.381000	0.81170	0.561000	0.74099	ACC		0.662	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		17	72	0	0	0	1	0	17	72				
CRHR1	1394	broad.mit.edu	37	17	43912044	43912044	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr17:43912044C>T	ENST00000398285.3	+	14	1249	c.1249C>T	c.(1249-1251)Cgt>Tgt	p.R417C	CRHR1_ENST00000314537.5_Missense_Mutation_p.R388C|CRHR1_ENST00000352855.5_Missense_Mutation_p.R348C|CRHR1_ENST00000577353.1_Missense_Mutation_p.R374C|CRHR1_ENST00000339069.5_Silent_p.S241S|CRHR1_ENST00000293493.7_Missense_Mutation_p.R213C	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	417					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GCACTCGATCCGTGCCCGAGT	0.627																																					Ovarian(110;57 1568 10207 38216 49865)	ENST00000314537.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24						c.(1162-1164)Cgt>Tgt		corticotropin releasing hormone receptor 1							59.0	73.0	68.0					17																	43912044		2195	4293	6488	SO:0001583	missense	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43912044C>T	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.1249C>T	17.37:g.43912044C>T	ENSP00000381333:p.Arg417Cys					CRHR1_ENST00000352855.5_Missense_Mutation_p.R348C|CRHR1_ENST00000339069.5_Silent_p.S241S|CRHR1_ENST00000398285.3_Missense_Mutation_p.R417C|CRHR1_ENST00000293493.7_Missense_Mutation_p.R213C|CRHR1_ENST00000577353.1_Missense_Mutation_p.R374C	p.R388C	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	13	1387	+	Colorectal(2;0.0416)		417					B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	c.1162C>T	CCDS45712.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988766	0.74589	.	.	ENSG00000120088	ENST00000293493;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.24	4.25	0.50352	.	0.049930	0.85682	D	0.000000	T	0.76702	0.4024	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.987;0.996;0.953;0.979;0.979	T	0.79027	-0.1971	10	0.87932	D	0	.	12.5405	0.56167	0.1737:0.8262:0.0:0.0	.	374;417;287;348;388	P34998-4;P34998;B3TIK8;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.;.	C	213;417;388;374;348	ENSP00000293493:R213C;ENSP00000381333:R417C;ENSP00000326060:R388C;ENSP00000344068:R348C	ENSP00000293493:R213C	R	+	1	0	CRHR1	41267825	1.000000	0.71417	0.987000	0.45799	0.898000	0.52572	6.055000	0.71103	1.148000	0.42385	0.555000	0.69702	CGT		0.627	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			10	66	0	0	0	1	0	10	66				
TKT	7086	broad.mit.edu	37	3	53265501	53265501	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:53265501G>C	ENST00000462138.1	-	7	902	c.814C>G	c.(814-816)Cag>Gag	p.Q272E	TKT_ENST00000296289.6_Missense_Mutation_p.Q225E|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.Q280E|TKT_ENST00000423525.2_Missense_Mutation_p.Q272E			P29401	TKT_HUMAN	transketolase	272					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		TAGATCTCCTGGATGATCTGC	0.557																																					Colon(133;1506 2347 35238 42177)	ENST00000462138.1																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(814-816)Cag>Gag		transketolase	Thiamine(DB00152)						144.0	118.0	127.0					3																	53265501		2203	4300	6503	SO:0001583	missense	7086				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	g.chr3:53265501G>C		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.814C>G	3.37:g.53265501G>C	ENSP00000417773:p.Gln272Glu					TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.Q280E|TKT_ENST00000423525.2_Missense_Mutation_p.Q272E|TKT_ENST00000296289.6_Missense_Mutation_p.Q225E	p.Q272E			P29401	TKT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	7	902	-		Prostate(884;0.0959)	272					A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	ENST00000462138.1	37	c.814C>G	CCDS2871.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766534	0.31228	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	5.69	3.73	0.42828	Transketolase, N-terminal (1);	0.165899	0.52532	D	0.000063	T	0.07007	0.0178	N	0.01431	-0.87	0.43065	D	0.994692	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.19160	-1.0314	10	0.07990	T	0.79	-17.6382	12.4922	0.55907	0.0:0.2473:0.6387:0.114	.	280;189;272	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	E	272;272;280;225;106	ENSP00000417773:Q272E;ENSP00000405455:Q272E;ENSP00000391481:Q280E;ENSP00000296289:Q225E	ENSP00000296289:Q225E	Q	-	1	0	TKT	53240541	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.678000	0.61641	1.347000	0.45714	0.655000	0.94253	CAG		0.557	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			4	32	0	0	0	1	0	4	32				
CIC	23152	broad.mit.edu	37	19	42793356	42793356	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr19:42793356C>G	ENST00000575354.2	+	8	1198	c.1158C>G	c.(1156-1158)taC>taG	p.Y386*	CIC_ENST00000572681.2_Nonsense_Mutation_p.Y1295*|CIC_ENST00000160740.3_Nonsense_Mutation_p.Y386*	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	386					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTGCATCGTACTCTGGCCCAA	0.672			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3883-3885)taC>taG		capicua transcriptional repressor							65.0	69.0	68.0					19																	42793356		2203	4300	6503	SO:0001587	stop_gained	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42793356C>G	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1158C>G	19.37:g.42793356C>G	ENSP00000458663:p.Tyr386*					CIC_ENST00000575354.2_Nonsense_Mutation_p.Y386*|CIC_ENST00000160740.3_Nonsense_Mutation_p.Y386*	p.Y1295*			Q96RK0	CIC_HUMAN			9	3953	+		Prostate(69;0.00682)	386			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Nonsense_Mutation	SNP	ENST00000575354.2	37	c.3885C>G	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	41	8.946703	0.99012	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.89	-0.0868	0.13680	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.0531	7.4037	0.26979	0.0:0.6066:0.0:0.3934	.	.	.	.	X	386	.	ENSP00000160740:Y386X	Y	+	3	2	CIC	47485196	0.880000	0.30214	0.977000	0.42913	0.962000	0.63368	0.010000	0.13242	0.162000	0.19483	0.561000	0.74099	TAC		0.672	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			27	125	0	0	0	1	0	27	125				
OR10G9	219870	broad.mit.edu	37	11	123893848	123893848	+	Silent	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:123893848C>T	ENST00000375024.1	+	1	129	c.129C>T	c.(127-129)atC>atT	p.I43I		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ACCTCCTCATCCTGCTGGTGA	0.572																																						ENST00000375024.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61						c.(127-129)atC>atT		olfactory receptor, family 10, subfamily G, member 9							102.0	93.0	96.0					11																	123893848		2201	4296	6497	SO:0001819	synonymous_variant	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123893848C>T	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.129C>T	11.37:g.123893848C>T							p.I43I	NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	129	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	43						Silent	SNP	ENST00000375024.1	37	c.129C>T	CCDS31703.1																																																																																				0.572	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		20	73	0	0	0	1	0	20	73				
DDX11	1663	broad.mit.edu	37	12	31255198	31255198	+	Missense_Mutation	SNP	G	G	A	rs558229319	byFrequency	TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:31255198G>A	ENST00000407793.2	+	22	2475	c.2224G>A	c.(2224-2226)Gca>Aca	p.A742T	DDX11_ENST00000542838.1_Missense_Mutation_p.A742T|DDX11_ENST00000350437.4_Missense_Mutation_p.A692T|DDX11_ENST00000228264.6_Missense_Mutation_p.A716T|DDX11_ENST00000545668.1_Missense_Mutation_p.A742T|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	742					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ACCTAAGAGCGCACACCAGGT	0.577										Multiple Myeloma(12;0.14)			G|||	2	0.000399361	0.0015	0.0	5008	,	,		20797	0.0		0.0	False		,,,				2504	0.0					ENST00000407793.2																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(2224-2226)Gca>Aca		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							71.0	79.0	77.0					12																	31255198		2203	4300	6503	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31255198G>A	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2224G>A	12.37:g.31255198G>A	ENSP00000384703:p.Ala742Thr	Multiple Myeloma(12;0.14)				DDX11_ENST00000542838.1_Missense_Mutation_p.A742T|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.A742T|DDX11_ENST00000350437.4_Missense_Mutation_p.A692T|DDX11_ENST00000228264.6_Missense_Mutation_p.A716T	p.A742T	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN			22	2475	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		742					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.2224G>A	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501187	0.44455	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	D;D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89	3.85	2.95	0.34219	Helicase, ATP-dependent, c2 type (1);	0.239301	0.43110	N	0.000612	D	0.93074	0.7795	M	0.67397	2.05	0.80722	D	1	B;B;D;B	0.76494	0.142;0.363;0.999;0.142	B;B;P;B	0.61477	0.055;0.088;0.889;0.055	D	0.89925	0.4062	10	0.21540	T	0.41	.	9.1836	0.37156	0.1094:0.0:0.8906:0.0	.	716;742;692;742	Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	T	742;742;467;716;742;692	ENSP00000443426:A742T;ENSP00000384703:A742T;ENSP00000228264:A716T;ENSP00000440402:A742T;ENSP00000309965:A692T	ENSP00000228264:A716T	A	+	1	0	DDX11	31146465	1.000000	0.71417	0.282000	0.24776	0.283000	0.27025	2.073000	0.41519	0.824000	0.34613	-0.198000	0.12761	GCA		0.577	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		5	61	0	0	0	1	0	5	61				
RPL3	6122	broad.mit.edu	37	22	39713632	39713632	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr22:39713632C>T	ENST00000216146.4	-	3	372	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	SNORD43_ENST00000583861.1_RNA|RPL3_ENST00000465618.1_5'UTR|SNORD83A_ENST00000386747.1_RNA|RPL3_ENST00000401609.1_Missense_Mutation_p.V15M	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	67					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|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 large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	TTCTTGTTCACCTCTGCAAAA	0.532																																						ENST00000216146.4																			0				breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(199-201)Gtg>Atg		ribosomal protein L3							86.0	84.0	85.0					22																	39713632		2203	4300	6503	SO:0001583	missense	6122				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr22:39713632C>T	AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"""L ribosomal proteins"""	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.199G>A	22.37:g.39713632C>T	ENSP00000346001:p.Val67Met					RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Missense_Mutation_p.V15M	p.V67M	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN			3	372	-	Melanoma(58;0.04)		67					B2RDV9|Q15548|Q5I0G0	Missense_Mutation	SNP	ENST00000216146.4	37	c.199G>A	CCDS13988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.05|13.05	2.122615|2.122615	0.37436|0.37436	.|.	.|.	ENSG00000100316|ENSG00000100316	ENST00000427905|ENST00000401609;ENST00000216146;ENST00000402527;ENST00000453303	.|T;T;T;T	.|0.22945	.|1.93;1.93;1.93;1.93	5.2|5.2	4.15|4.15	0.48705|0.48705	.|Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	.|0.116963	.|0.56097	.|D	.|0.000023	T|T	0.13670|0.13670	0.0331|0.0331	N|N	0.10707|0.10707	0.03|0.03	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.24920	.|0.103;0.114;0.062	.|B;B;B	.|0.26310	.|0.037;0.055;0.068	T|T	0.06679|0.06679	-1.0813|-1.0813	5|10	.|0.12103	.|T	.|0.63	.|.	14.8155|14.8155	0.70031|0.70031	0.1451:0.8548:0.0:0.0|0.1451:0.8548:0.0:0.0	.|.	.|38;67;67	.|Q8TBW1;P39023;B3KS36	.|.;RL3_HUMAN;.	D|M	98|15;67;15;94	.|ENSP00000386101:V15M;ENSP00000346001:V67M;ENSP00000385762:V15M;ENSP00000415198:V94M	.|ENSP00000346001:V67M	G|V	-|-	2|1	0|0	RPL3|RPL3	38043578|38043578	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.821000|0.821000	0.46438|0.46438	5.576000|5.576000	0.67437|0.67437	1.133000|1.133000	0.42147|0.42147	0.561000|0.561000	0.74099|0.74099	GGT|GTG		0.532	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321196.1	NM_000967		19	93	0	0	0	1	0	19	93				
CFB	629	broad.mit.edu	37	6	31915185	31915185	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr6:31915185G>A	ENST00000425368.2	+	4	1058	c.545G>A	c.(544-546)cGc>cAc	p.R182H	CFB_ENST00000556679.1_Missense_Mutation_p.R684H|CFB_ENST00000456570.1_Missense_Mutation_p.R684H|CFB_ENST00000477310.1_Missense_Mutation_p.R533H	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	182	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGCCAGTACCGCCTTGAAGAC	0.632																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(2050-2052)cGc>cAc		complement factor B							114.0	116.0	115.0					6																	31915185		1509	2708	4217	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31915185G>A	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.545G>A	6.37:g.31915185G>A	ENSP00000416561:p.Arg182His					CFB_ENST00000477310.1_Missense_Mutation_p.R533H|CFB_ENST00000425368.2_Missense_Mutation_p.R182H|CFB_ENST00000556679.1_Missense_Mutation_p.R684H	p.R684H			P00751	CFAB_HUMAN			16	2106	+			182			Peptidase S1.		B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	c.2051G>A	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248778	0.80024	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.93	4.93	0.64822	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.52532	D	0.000080	T	0.63674	0.2531	L	0.39085	1.19	0.41274	D	0.986862	D;P;D	0.89917	1.0;0.953;1.0	D;B;D	0.78314	0.991;0.247;0.973	T	0.63528	-0.6617	10	0.42905	T	0.14	-25.8402	15.1847	0.72989	0.0:0.0:1.0:0.0	.	684;182;182	B4E1Z4;P00751;P00751-2	.;CFAB_HUMAN;.	H	684;182;684;533	ENSP00000451848:R684H;ENSP00000416561:R182H;ENSP00000410815:R684H;ENSP00000418996:R533H	ENSP00000416561:R182H	R	+	2	0	CFB;XXbac-BPG116M5.17	32023164	0.996000	0.38824	1.000000	0.80357	0.984000	0.73092	2.811000	0.47986	2.587000	0.87381	0.655000	0.94253	CGC		0.632	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		20	123	0	0	0	1	0	20	123				
PAMR1	25891	broad.mit.edu	37	11	35454378	35454378	+	Silent	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:35454378G>A	ENST00000378880.2	-	11	2134	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	PAMR1_ENST00000278360.3_Silent_p.I580I|PAMR1_ENST00000378878.3_Silent_p.I452I|PAMR1_ENST00000532848.1_Silent_p.I523I	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	563	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GGAGCTTCAGGATGGCGATGT	0.547																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(1687-1689)atC>atT		peptidase domain containing associated with muscle regeneration 1							66.0	64.0	64.0					11																	35454378		2202	4298	6500	SO:0001819	synonymous_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35454378G>A		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1689C>T	11.37:g.35454378G>A						PAMR1_ENST00000278360.3_Silent_p.I580I|PAMR1_ENST00000378878.3_Silent_p.I452I|PAMR1_ENST00000532848.1_Silent_p.I523I	p.I563I	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			11	2134	-			563			Peptidase S1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Silent	SNP	ENST00000378880.2	37	c.1689C>T	CCDS31460.1																																																																																				0.547	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		11	40	0	0	0	1	0	11	40				
PCLO	27445	broad.mit.edu	37	7	82578803	82578803	+	Missense_Mutation	SNP	C	C	T	rs369294508		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr7:82578803C>T	ENST00000333891.9	-	6	11438	c.11101G>A	c.(11101-11103)Gag>Aag	p.E3701K	PCLO_ENST00000423517.2_Missense_Mutation_p.E3701K|PCLO_ENST00000437081.1_Missense_Mutation_p.E421K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTATAGCCCTCGGTATACTGA	0.463																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(11101-11103)Gag>Aag		piccolo presynaptic cytomatrix protein		C	LYS/GLU,LYS/GLU	1,3795		0,1,1897	161.0	153.0	156.0		11101,11101	5.9	1.0	7		156	0,8276		0,0,4138	no	missense,missense	PCLO	NM_014510.2,NM_033026.5	56,56	0,1,6035	TT,TC,CC		0.0,0.0263,0.0083	probably-damaging,probably-damaging	3701/4936,3701/5143	82578803	1,12071	1898	4138	6036	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82578803C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11101G>A	7.37:g.82578803C>T	ENSP00000334319:p.Glu3701Lys					PCLO_ENST00000437081.1_Missense_Mutation_p.E421K|PCLO_ENST00000333891.8_Missense_Mutation_p.E3701K	p.E3701K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			6	11438	-			3632						Missense_Mutation	SNP	ENST00000333891.9	37	c.11101G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034178	0.75617	2.63E-4	0.0	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17528	2.27;2.27	5.92	5.92	0.95590	.	.	.	.	.	T	0.32496	0.0831	L	0.56769	1.78	0.48571	D	0.999673	P;D;D	0.62365	0.913;0.991;0.991	B;P;P	0.51324	0.06;0.666;0.666	T	0.01212	-1.1417	9	0.87932	D	0	.	20.3172	0.98658	0.0:1.0:0.0:0.0	.	3632;3701;3701	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	K	3632;3701;3701;421	ENSP00000334319:E3701K;ENSP00000388393:E3701K	ENSP00000334319:E3701K	E	-	1	0	PCLO	82416739	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.772000	0.62324	2.801000	0.96364	0.650000	0.86243	GAG		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		20	120	0	0	0	1	0	20	120				
CYLC1	1538	broad.mit.edu	37	X	83129517	83129517	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:83129517C>T	ENST00000329312.4	+	4	1838	c.1801C>T	c.(1801-1803)Cct>Tct	p.P601S		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	601	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AGGTAGAGTTCCTCCATCAAG	0.448																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1801-1803)Cct>Tct		cylicin, basic protein of sperm head cytoskeleton 1							77.0	66.0	70.0					X																	83129517		2203	4299	6502	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83129517C>T	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1801C>T	X.37:g.83129517C>T	ENSP00000331556:p.Pro601Ser						p.P601S	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	1838	+			601			Pro-rich.		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.1801C>T	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	c	8.580	0.882079	0.17467	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.67865	-0.29	3.61	3.61	0.41365	.	.	.	.	.	T	0.71634	0.3363	L	0.34521	1.04	0.24481	N	0.994349	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.941	T	0.59925	-0.7362	9	0.87932	D	0	-3.0994	9.7505	0.40473	0.0:1.0:0.0:0.0	.	601;601	P35663;F5H4V5	CYLC1_HUMAN;.	S	601	ENSP00000331556:P601S	ENSP00000331556:P601S	P	+	1	0	CYLC1	83016173	0.986000	0.35501	0.852000	0.33557	0.075000	0.17131	1.794000	0.38774	2.047000	0.60756	0.600000	0.82982	CCT		0.448	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		9	39	0	0	0	1	0	9	39				
ANKRD53	79998	broad.mit.edu	37	2	71206793	71206793	+	Silent	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr2:71206793C>T	ENST00000360589.3	+	3	454	c.420C>T	c.(418-420)ggC>ggT	p.G140G	AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000457410.1_Silent_p.G106G|ANKRD53_ENST00000272421.6_Silent_p.G140G|ANKRD53_ENST00000441349.1_Silent_p.G106G	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	140										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CCTCACAGGGCTTCACTGCCA	0.532																																						ENST00000272421.6																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						c.(418-420)ggC>ggT		ankyrin repeat domain 53							48.0	40.0	42.0					2																	71206793		2203	4300	6503	SO:0001819	synonymous_variant	79998							g.chr2:71206793C>T	BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"""Ankyrin repeat domain containing"""	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.420C>T	2.37:g.71206793C>T						ANKRD53_ENST00000457410.1_Silent_p.G106G|ANKRD53_ENST00000360589.3_Silent_p.G140G|AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000441349.1_Silent_p.G106G	p.G140G	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN			3	686	+			140					Q8IYP8	Silent	SNP	ENST00000360589.3	37	c.420C>T	CCDS46321.1																																																																																				0.532	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330275.2	NM_024933		7	6	0	0	0	1	0	7	6				
CACNA1D	776	broad.mit.edu	37	3	53787615	53787615	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:53787615A>G	ENST00000350061.5	+	29	4203	c.3692A>G	c.(3691-3693)aAg>aGg	p.K1231R	CACNA1D_ENST00000540742.1_Missense_Mutation_p.K138R|CACNA1D_ENST00000422281.2_Missense_Mutation_p.K1231R|CACNA1D_ENST00000288139.4_Missense_Mutation_p.K1251R	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1231					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGCAGTCCAAGATGTTCAAT	0.512																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(3751-3753)aAg>aGg		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						191.0	146.0	161.0					3																	53787615		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53787615A>G	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3692A>G	3.37:g.53787615A>G	ENSP00000288133:p.Lys1231Arg					CACNA1D_ENST00000540742.1_Missense_Mutation_p.K138R|CACNA1D_ENST00000422281.2_Missense_Mutation_p.K1231R|CACNA1D_ENST00000350061.5_Missense_Mutation_p.K1231R	p.K1251R	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	30	3870	+			1231					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.3752A>G	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	A	12.23	1.875470	0.33162	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39;-4.39	5.93	4.77	0.60923	.	0.127769	0.53938	D	0.000060	D	0.92335	0.7568	L	0.28556	0.865	0.80722	D	1	B;B;B;B;B	0.24533	0.004;0.001;0.004;0.105;0.003	B;B;B;B;B	0.22386	0.005;0.005;0.005;0.039;0.011	D	0.87000	0.2116	10	0.17369	T	0.5	.	8.0308	0.30463	0.7962:0.1356:0.0682:0.0	.	1231;138;924;1231;1251	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	R	1231;1251;1231;924;138	ENSP00000288133:K1231R;ENSP00000288139:K1251R;ENSP00000409174:K1231R;ENSP00000418014:K924R;ENSP00000438229:K138R	ENSP00000288139:K1251R	K	+	2	0	CACNA1D	53762655	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.362000	0.52314	1.070000	0.40811	0.533000	0.62120	AAG		0.512	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		3	49	0	0	0	1	0	3	49				
SEMA4A	64218	broad.mit.edu	37	1	156128598	156128598	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr1:156128598A>T	ENST00000368285.3	+	6	818	c.551A>T	c.(550-552)cAt>cTt	p.H184L	SEMA4A_ENST00000368284.1_Missense_Mutation_p.H52L|SEMA4A_ENST00000368282.1_Missense_Mutation_p.H184L|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000355014.2_Missense_Mutation_p.H184L|SEMA4A_ENST00000368286.2_Missense_Mutation_p.H52L	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	184	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GCTCACAAGCATACGGCTGTC	0.488																																						ENST00000368285.3																			0				breast(1)|ovary(2)|skin(2)	5						c.(550-552)cAt>cTt		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A							102.0	103.0	102.0					1																	156128598		2203	4300	6503	SO:0001583	missense	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156128598A>T	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.551A>T	1.37:g.156128598A>T	ENSP00000357268:p.His184Leu					SEMA4A_ENST00000368286.2_Missense_Mutation_p.H52L|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.H184L|SEMA4A_ENST00000355014.2_Missense_Mutation_p.H184L|SEMA4A_ENST00000368284.1_Missense_Mutation_p.H52L	p.H184L	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN			6	818	+	Hepatocellular(266;0.158)		184			Sema.		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	37	c.551A>T	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.069066	0.36470	.	.	ENSG00000196189	ENST00000435124;ENST00000414683;ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000438830;ENST00000368282	T;T;T;T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89;2.89;2.89;2.89	4.58	4.58	0.56647	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.486738	0.22334	N	0.061434	T	0.05960	0.0155	M	0.62723	1.935	0.33951	D	0.644384	B;B	0.30179	0.173;0.271	B;B	0.35770	0.21;0.21	T	0.16394	-1.0404	10	0.11794	T	0.64	.	12.9351	0.58309	1.0:0.0:0.0:0.0	.	52;184	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	L	184;85;184;184;52;146;146;52;151;184	ENSP00000401391:H184L;ENSP00000399230:H85L;ENSP00000347117:H184L;ENSP00000357268:H184L;ENSP00000357267:H52L;ENSP00000357269:H52L;ENSP00000392865:H151L;ENSP00000357265:H184L	ENSP00000347117:H184L	H	+	2	0	SEMA4A	154395222	0.979000	0.34478	1.000000	0.80357	0.658000	0.38924	1.404000	0.34623	1.921000	0.55644	0.260000	0.18958	CAT		0.488	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		27	74	0	0	0	1	0	27	74				
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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)	ENST00000420246.2		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"""		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(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						c.(535-537)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							47.0	47.0	47.0					17																	7578394		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578394T>C	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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	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_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	668	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Missense_Mutation	SNP	ENST00000269305.4	37	c.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	47	0	0	0	1	0	19	47				
C3	718	broad.mit.edu	37	19	6702579	6702579	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr19:6702579C>T	ENST00000245907.6	-	18	2349	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	753					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	ATGATGTCCTCATCCAGGTTA	0.517																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2257-2259)Gag>Aag		complement component 3							115.0	102.0	107.0					19																	6702579		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6702579C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2257G>A	19.37:g.6702579C>T	ENSP00000245907:p.Glu753Lys						p.E753K	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	18	2349	-			753					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.2257G>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751481	0.49257	.	.	ENSG00000125730	ENST00000245907	T	0.35789	1.29	5.58	5.58	0.84498	.	0.329430	0.31685	N	0.007225	T	0.44664	0.1304	M	0.80183	2.485	0.51233	D	0.99991	B	0.27656	0.184	B	0.26969	0.075	T	0.36939	-0.9727	10	0.30854	T	0.27	.	18.3392	0.90299	0.0:1.0:0.0:0.0	.	753	P01024	CO3_HUMAN	K	753	ENSP00000245907:E753K	ENSP00000245907:E753K	E	-	1	0	C3	6653579	0.998000	0.40836	0.924000	0.36721	0.129000	0.20672	4.322000	0.59215	2.631000	0.89168	0.655000	0.94253	GAG		0.517	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		12	51	0	0	0	1	0	12	51				
ZNF772	400720	broad.mit.edu	37	19	57987107	57987107	+	Silent	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr19:57987107C>T	ENST00000343280.4	-	3	380	c.120G>A	c.(118-120)gaG>gaA	p.E40E	ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000425074.3_Intron|ZNF772_ENST00000356584.3_Silent_p.E40E|AC003005.2_ENST00000595422.1_lincRNA|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000427512.2_Intron|AC004076.9_ENST00000596831.1_Silent_p.E40E	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	40	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		GGAGCACCCACTCCTCCTGGG	0.562																																					Melanoma(5;289 436 14293 15924 30817)	ENST00000343280.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9						c.(118-120)gaG>gaA		zinc finger protein 772							205.0	177.0	186.0					19																	57987107		2203	4300	6503	SO:0001819	synonymous_variant	400720				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57987107C>T	BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.120G>A	19.37:g.57987107C>T						ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000427512.2_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000356584.3_Silent_p.E40E|AC004076.9_ENST00000596831.1_Silent_p.E40E|ZNF772_ENST00000425074.3_Intron|AC004076.9_ENST00000415705.3_Intron	p.E40E	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)	3	380	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	40			KRAB.		A6NJK9|B4DH56|B4DYS0	Silent	SNP	ENST00000343280.4	37	c.120G>A	CCDS33133.1																																																																																				0.562	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596		15	96	0	0	0	1	0	15	96				
TNKS1BP1	85456	broad.mit.edu	37	11	57085349	57085349	+	Silent	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:57085349G>A	ENST00000532437.1	-	3	1052	c.741C>T	c.(739-741)tcC>tcT	p.S247S	TNKS1BP1_ENST00000358252.3_Silent_p.S247S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	247	Acidic.|Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGGCCAGGTCGGAAGGAAGGC	0.512																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(739-741)tcC>tcT		tankyrase 1 binding protein 1, 182kDa							79.0	75.0	76.0					11																	57085349		2201	4296	6497	SO:0001819	synonymous_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57085349G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.741C>T	11.37:g.57085349G>A						TNKS1BP1_ENST00000358252.3_Silent_p.S247S	p.S247S			Q9C0C2	TB182_HUMAN			3	1052	-		all_epithelial(135;0.21)	247			Acidic.|Pro-rich.		A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	c.741C>T	CCDS7951.1																																																																																				0.512	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		8	41	0	0	0	1	0	8	41				
MPDZ	8777	broad.mit.edu	37	9	13224399	13224399	+	Missense_Mutation	SNP	C	C	T	rs367848962		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr9:13224399C>T	ENST00000319217.7	-	4	614	c.367G>A	c.(367-369)Gat>Aat	p.D123N	MPDZ_ENST00000381022.2_Missense_Mutation_p.D123N|MPDZ_ENST00000381015.4_Missense_Mutation_p.D123N|MPDZ_ENST00000546205.1_Missense_Mutation_p.D123N|MPDZ_ENST00000541718.1_Missense_Mutation_p.D123N|MPDZ_ENST00000447879.1_Missense_Mutation_p.D123N|MPDZ_ENST00000536827.1_Missense_Mutation_p.D123N	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	123					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATAAGCTGATCAAATTCATCA	0.338																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(367-369)Gat>Aat		multiple PDZ domain protein		C	ASN/ASP	0,3668		0,0,1834	123.0	117.0	119.0		367	5.7	1.0	9		119	1,8169		0,1,4084	no	missense	MPDZ	NM_003829.3	23	0,1,5918	TT,TC,CC		0.0122,0.0,0.0084	benign	123/2042	13224399	1,11837	1834	4085	5919	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13224399C>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.367G>A	9.37:g.13224399C>T	ENSP00000320006:p.Asp123Asn					MPDZ_ENST00000381022.2_Missense_Mutation_p.D123N|MPDZ_ENST00000546205.1_Missense_Mutation_p.D123N|MPDZ_ENST00000381015.4_Missense_Mutation_p.D123N|MPDZ_ENST00000541718.1_Missense_Mutation_p.D123N|MPDZ_ENST00000536827.1_Missense_Mutation_p.D123N|MPDZ_ENST00000447879.1_Missense_Mutation_p.D123N	p.D123N	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	4	614	-			123					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.367G>A		.	.	.	.	.	.	.	.	.	.	C	10.36	1.329079	0.24167	0.0	1.22E-4	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.10099	2.97;2.92;2.92;2.91;2.96;2.97;2.97	5.72	5.72	0.89469	.	0.000000	0.46758	D	0.000276	T	0.10078	0.0247	N	0.08118	0	0.80722	D	1	B;P;P	0.37061	0.45;0.58;0.58	B;P;P	0.47376	0.233;0.545;0.545	T	0.05683	-1.0870	10	0.02654	T	1	.	19.8891	0.96923	0.0:1.0:0.0:0.0	.	123;123;123	B7ZMI4;O75970-3;O75970-2	.;.;.	N	123	ENSP00000320006:D123N;ENSP00000439807:D123N;ENSP00000370410:D123N;ENSP00000444151:D123N;ENSP00000415208:D123N;ENSP00000370403:D123N;ENSP00000446358:D123N	ENSP00000320006:D123N	D	-	1	0	MPDZ	13214399	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.570000	0.73996	2.689000	0.91719	0.655000	0.94253	GAT		0.338	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		9	71	0	0	0	1	0	9	71				
ARHGAP6	395	broad.mit.edu	37	X	11197558	11197558	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:11197558A>C	ENST00000337414.4	-	7	2216	c.1344T>G	c.(1342-1344)ttT>ttG	p.F448L	ARHGAP6_ENST00000413512.3_Missense_Mutation_p.F257L|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.F480L|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.F448L|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.F245L|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.F245L|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.F273L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	448	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCCCACGGTCAAATTCCTCAC	0.517																																						ENST00000337414.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1342-1344)ttT>ttG		Rho GTPase activating protein 6							141.0	98.0	113.0					X																	11197558		2203	4300	6503	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11197558A>C	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1344T>G	X.37:g.11197558A>C	ENSP00000338967:p.Phe448Leu					ARHGAP6_ENST00000380718.1_Missense_Mutation_p.F448L|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.F245L|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.F257L|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.F480L|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.F273L|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.F245L|ARHGAP6_ENST00000491514.1_5'UTR	p.F448L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN			7	2216	-			448			Rho-GAP.		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.1344T>G	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.245218	0.80024	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.61	3.23	0.37069	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.56097	D	0.000035	T	0.32615	0.0835	L	0.45698	1.435	0.80722	D	1	D;P;D;P;D	0.89917	1.0;0.867;0.999;0.846;1.0	D;P;D;P;D	0.91635	0.998;0.645;0.996;0.759;0.999	T	0.05370	-1.0889	10	0.15952	T	0.53	.	9.2029	0.37270	0.8516:0.0:0.1484:0.0	.	257;245;448;448;448	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	L	273;245;245;448;284;448;257;480	ENSP00000438135:F273L;ENSP00000370112:F245L;ENSP00000302312:F245L;ENSP00000338967:F448L;ENSP00000370093:F284L;ENSP00000370094:F448L;ENSP00000389394:F257L;ENSP00000370108:F480L	ENSP00000302312:F245L	F	-	3	2	ARHGAP6	11107479	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.356000	0.44116	0.288000	0.22398	0.425000	0.28330	TTT		0.517	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		17	44	0	0	0	1	0	17	44				
TGFBI	7045	broad.mit.edu	37	5	135383002	135383002	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr5:135383002C>G	ENST00000442011.2	+	6	825	c.664C>G	c.(664-666)Cac>Gac	p.H222D	TGFBI_ENST00000305126.8_Missense_Mutation_p.H222D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	222	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAAAGCCGACCACCATGCAAC	0.532																																						ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(664-666)Cac>Gac		transforming growth factor, beta-induced, 68kDa							145.0	140.0	142.0					5																	135383002		2103	4223	6326	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135383002C>G	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.664C>G	5.37:g.135383002C>G	ENSP00000416330:p.His222Asp					TGFBI_ENST00000305126.8_Missense_Mutation_p.H222D	p.H222D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	825	+			222			FAS1 1.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.664C>G	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779460	0.90195	.	.	ENSG00000120708	ENST00000442011;ENST00000305126	D;D	0.91407	-2.84;-2.84	6.0	6.0	0.97389	FAS1 domain (5);	0.043037	0.85682	D	0.000000	D	0.90511	0.7027	L	0.31926	0.97	0.58432	D	0.999999	P	0.49961	0.93	P	0.50192	0.634	D	0.90771	0.4672	10	0.66056	D	0.02	-14.2862	20.5597	0.99324	0.0:1.0:0.0:0.0	.	222	Q15582	BGH3_HUMAN	D	222	ENSP00000416330:H222D;ENSP00000306306:H222D	ENSP00000306306:H222D	H	+	1	0	TGFBI	135410901	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.704000	0.61831	2.868000	0.98415	0.556000	0.70494	CAC		0.532	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			14	116	0	0	0	1	0	14	116				
TTC13	79573	broad.mit.edu	37	1	231096993	231096993	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr1:231096993A>T	ENST00000366661.4	-	2	335	c.328T>A	c.(328-330)Tgt>Agt	p.C110S	TTC13_ENST00000366662.4_Missense_Mutation_p.C110S|TTC13_ENST00000414259.1_Missense_Mutation_p.C110S	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	110										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		AAGGAGTCACAGGGTGATGAT	0.418																																						ENST00000366661.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39						c.(328-330)Tgt>Agt		tetratricopeptide repeat domain 13							125.0	114.0	118.0					1																	231096993		2203	4300	6503	SO:0001583	missense	79573						binding	g.chr1:231096993A>T		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.328T>A	1.37:g.231096993A>T	ENSP00000355621:p.Cys110Ser					TTC13_ENST00000366662.4_Missense_Mutation_p.C110S|TTC13_ENST00000414259.1_Missense_Mutation_p.C110S	p.C110S	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	2	335	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	110					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.328T>A	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	A	18.60	3.658470	0.67586	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	T;T;T	0.62105	0.66;0.05;0.05	5.27	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.62865	0.2463	N	0.24115	0.695	0.58432	D	0.999994	D;D;D	0.63880	0.993;0.975;0.967	D;P;P	0.72338	0.977;0.573;0.449	T	0.57394	-0.7819	10	0.23891	T	0.37	-6.2879	10.1771	0.42946	0.9197:0.0:0.0803:0.0	.	110;110;110	E9PGV4;Q8NBP0-2;Q8NBP0	.;.;TTC13_HUMAN	S	110	ENSP00000355621:C110S;ENSP00000355622:C110S;ENSP00000416631:C110S	ENSP00000355621:C110S	C	-	1	0	TTC13	229163616	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.401000	0.59716	0.839000	0.34971	0.455000	0.32223	TGT		0.418	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		8	21	0	0	0	1	0	8	21				
RSAD1	55316	broad.mit.edu	37	17	48559727	48559727	+	Silent	SNP	G	G	A	rs561004561		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr17:48559727G>A	ENST00000258955.2	+	4	835	c.750G>A	c.(748-750)ccG>ccA	p.P250P		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	250					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCCCTGACCCGGAGCTCGCAG	0.637											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0008	0.0	5008	,	,		16616	0.0		0.0	False		,,,				2504	0.0					ENST00000258955.2																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(748-750)ccG>ccA		radical S-adenosyl methionine domain containing 1							50.0	55.0	53.0					17																	48559727		2203	4300	6503	SO:0001819	synonymous_variant	55316				porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding	g.chr17:48559727G>A	AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.750G>A	17.37:g.48559727G>A			OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	955		p.P250P	NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		4	835	+	Breast(11;1.93e-18)		250					B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Silent	SNP	ENST00000258955.2	37	c.750G>A	CCDS11569.1																																																																																				0.637	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367413.1	NM_018346		28	79	0	0	0	1	0	28	79				
FBXL3	26224	broad.mit.edu	37	13	77589583	77589583	+	Silent	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr13:77589583G>A	ENST00000355619.5	-	4	928	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	FBXL3_ENST00000477982.1_5'UTR	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	202					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		ATTTTCAACAGCTTGAGTGTA	0.388																																						ENST00000355619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16						c.(604-606)Ctg>Ttg		F-box and leucine-rich repeat protein 3							143.0	126.0	132.0					13																	77589583		2203	4299	6502	SO:0001819	synonymous_variant	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77589583G>A	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.604C>T	13.37:g.77589583G>A						FBXL3_ENST00000477982.1_5'UTR	p.L202L	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	4	928	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	202					B2RB04|Q9P122	Silent	SNP	ENST00000355619.5	37	c.604C>T	CCDS9457.1																																																																																				0.388	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			30	56	0	0	0	1	0	30	56				
NXF1	10482	broad.mit.edu	37	11	62561861	62561861	+	Silent	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:62561861C>T	ENST00000532297.1	-	20	2258	c.1629G>A	c.(1627-1629)gaG>gaA	p.E543E	NXF1_ENST00000294172.2_Silent_p.E543E|TMEM223_ENST00000307366.7_5'Flank|TMEM223_ENST00000527073.1_5'Flank|NXF1_ENST00000533048.1_5'UTR|NXF1_ENST00000531709.2_3'UTR|TMEM223_ENST00000525631.1_5'Flank			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	543					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCTTTGGATCTCTTCAGAAC	0.493																																						ENST00000532297.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1627-1629)gaG>gaA		nuclear RNA export factor 1							121.0	114.0	116.0					11																	62561861		2201	4299	6500	SO:0001819	synonymous_variant	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62561861C>T	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1629G>A	11.37:g.62561861C>T						NXF1_ENST00000294172.2_Silent_p.E543E|NXF1_ENST00000531709.2_3'UTR	p.E543E			Q9UBU9	NXF1_HUMAN			20	2258	-			543					B4E269|Q99799|Q9UQL2	Silent	SNP	ENST00000532297.1	37	c.1629G>A	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	C	9.588	1.125449	0.20959	.	.	ENSG00000162231	ENST00000527902	.	.	.	5.38	1.34	0.21922	.	.	.	.	.	T	0.55909	0.1950	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47761	-0.9092	4	.	.	.	-29.4312	8.5936	0.33701	0.0:0.6625:0.0:0.3375	.	.	.	.	K	48	.	.	R	-	2	0	NXF1	62318437	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.326000	0.43849	0.251000	0.21505	0.462000	0.41574	AGA		0.493	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		13	61	0	0	0	1	0	13	61				
DIAPH1	1729	broad.mit.edu	37	5	140957875	140957875	+	Silent	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr5:140957875C>T	ENST00000398557.4	-	11	1220	c.1080G>A	c.(1078-1080)gtG>gtA	p.V360V	DIAPH1_ENST00000518047.1_Silent_p.V351V|DIAPH1_ENST00000398566.3_Silent_p.V351V|DIAPH1_ENST00000398562.2_Silent_p.V351V|DIAPH1_ENST00000253811.6_Silent_p.V360V|DIAPH1_ENST00000389057.5_Silent_p.V351V|DIAPH1_ENST00000389054.3_Silent_p.V360V|DIAPH1_ENST00000520569.1_Silent_p.V306V	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	360	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTTAGTTGCACTCTCATAT	0.428																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(1078-1080)gtG>gtA		diaphanous-related formin 1							100.0	95.0	96.0					5																	140957875		1922	4132	6054	SO:0001819	synonymous_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140957875C>T	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.1080G>A	5.37:g.140957875C>T						DIAPH1_ENST00000398562.2_Silent_p.V351V|DIAPH1_ENST00000518047.1_Silent_p.V351V|DIAPH1_ENST00000398557.4_Silent_p.V360V|DIAPH1_ENST00000520569.1_Silent_p.V306V|DIAPH1_ENST00000398566.3_Silent_p.V351V|DIAPH1_ENST00000389054.3_Silent_p.V360V|DIAPH1_ENST00000389057.5_Silent_p.V351V	p.V360V			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1220	-			360			GBD/FH3.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Silent	SNP	ENST00000398557.4	37	c.1080G>A	CCDS43374.1																																																																																				0.428	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		11	22	0	0	0	1	0	11	22				
ESX1	80712	broad.mit.edu	37	X	103499135	103499135	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:103499135G>A	ENST00000372588.4	-	2	289	c.206C>T	c.(205-207)tCg>tTg	p.S69L		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	69					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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 (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TTGGTCGTCCGAGGGGACGGA	0.647																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(205-207)tCg>tTg		ESX homeobox 1							119.0	118.0	118.0					X																	103499135		2203	4299	6502	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103499135G>A	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.206C>T	X.37:g.103499135G>A	ENSP00000361669:p.Ser69Leu						p.S69L	NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN			2	289	-			69					B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.206C>T	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	g	9.923	1.212820	0.22289	.	.	ENSG00000123576	ENST00000372588	D	0.91180	-2.8	4.04	-1.45	0.08828	.	.	.	.	.	T	0.73321	0.3572	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.04013	0.001	T	0.59010	-0.7534	9	0.21540	T	0.41	0.2053	0.3285	0.00315	0.3772:0.1924:0.24:0.1904	.	69	Q8N693	ESX1_HUMAN	L	69	ENSP00000361669:S69L	ENSP00000361669:S69L	S	-	2	0	ESX1	103385791	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.179000	0.09768	-0.371000	0.08004	-0.467000	0.05162	TCG		0.647	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		25	238	0	0	0	1	0	25	238				
KLB	152831	broad.mit.edu	37	4	39448687	39448687	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr4:39448687G>A	ENST00000257408.4	+	4	2438	c.2341G>A	c.(2341-2343)Gac>Aac	p.D781N		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	781	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CAAGACCGGGGACTACCCCGC	0.672																																						ENST00000257408.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						c.(2341-2343)Gac>Aac		klotho beta							28.0	31.0	30.0					4																	39448687		2188	4276	6464	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39448687G>A	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2341G>A	4.37:g.39448687G>A	ENSP00000257408:p.Asp781Asn						p.D781N	NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN			4	2438	+			781			Glycosyl hydrolase-1 2.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.2341G>A	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854905	0.71719	.	.	ENSG00000134962	ENST00000257408	T	0.33654	1.4	4.95	4.95	0.65309	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.050736	0.85682	D	0.000000	T	0.41465	0.1160	M	0.65975	2.015	0.49051	D	0.99974	P;P	0.44139	0.827;0.827	B;B	0.43445	0.42;0.42	T	0.46289	-0.9202	10	0.87932	D	0	-32.5532	12.6289	0.56646	0.0803:0.0:0.9197:0.0	.	772;781	B7ZL50;Q86Z14	.;KLOTB_HUMAN	N	781	ENSP00000257408:D781N	ENSP00000257408:D781N	D	+	1	0	KLB	39125082	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	5.387000	0.66243	2.293000	0.77203	0.313000	0.20887	GAC		0.672	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		9	58	0	0	0	1	0	9	58				
APBA1	320	broad.mit.edu	37	9	72131733	72131733	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr9:72131733G>T	ENST00000265381.4	-	2	616	c.394C>A	c.(394-396)Cag>Aag	p.Q132K		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	132					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GCCTCTGCCTGCTCCGTGTAC	0.711																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(394-396)Cag>Aag		amyloid beta (A4) precursor protein-binding, family A, member 1							35.0	31.0	33.0					9																	72131733		2201	4296	6497	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131733G>T	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.394C>A	9.37:g.72131733G>T	ENSP00000265381:p.Gln132Lys						p.Q132K	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	616	-			132					O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.394C>A	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092666	0.36952	.	.	ENSG00000107282	ENST00000265381	T	0.03860	3.78	5.16	4.13	0.48395	.	0.267545	0.34879	N	0.003601	T	0.03053	0.0090	N	0.08118	0	0.26285	N	0.978214	B	0.13594	0.008	B	0.14578	0.011	T	0.36939	-0.9727	10	0.56958	D	0.05	.	10.8365	0.46690	0.0:0.0:0.5891:0.4108	.	132	Q02410	APBA1_HUMAN	K	132	ENSP00000265381:Q132K	ENSP00000265381:Q132K	Q	-	1	0	APBA1	71321553	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.173000	0.42472	2.578000	0.87016	0.561000	0.74099	CAG		0.711	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		10	28	1	0	7.48243e-07	1	7.9301e-07	10	28				
PCDH11X	27328	broad.mit.edu	37	X	91132781	91132781	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:91132781C>A	ENST00000373094.1	+	2	2387	c.1542C>A	c.(1540-1542)agC>agA	p.S514R	PCDH11X_ENST00000298274.8_Missense_Mutation_p.S514R|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S514R|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S514R|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S514R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S514R|PCDH11X_ENST00000504220.2_Missense_Mutation_p.S514R|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S514R|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S514R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	514	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGAATTCAGCCTGGATTGTC	0.438																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1540-1542)agC>agA		protocadherin 11 X-linked							76.0	64.0	68.0					X																	91132781		2202	4300	6502	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132781C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1542C>A	X.37:g.91132781C>A	ENSP00000362186:p.Ser514Arg					PCDH11X_ENST00000395337.2_Missense_Mutation_p.S514R|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S514R|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S514R|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S514R|PCDH11X_ENST00000504220.1_Missense_Mutation_p.S514R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S514R|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S514R|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S514R	p.S514R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	2387	+			514			Cadherin 5.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1542C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	1.436	-0.568834	0.03910	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.38	1.62	0.23740	Cadherin (4);Cadherin-like (1);	0.193732	0.52532	D	0.000070	T	0.37972	0.1023	L	0.44542	1.39	0.25155	N	0.990397	B;B;B;B;B;P;B;B	0.34699	0.409;0.029;0.409;0.409;0.409;0.464;0.409;0.214	B;B;B;B;B;B;B;B	0.36186	0.139;0.042;0.139;0.139;0.139;0.219;0.139;0.139	T	0.26189	-1.0110	10	0.66056	D	0.02	.	8.4628	0.32938	0.0:0.6018:0.0:0.3982	.	514;514;514;514;514;514;514;514	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	R	514	ENSP00000378746:S514R;ENSP00000362186:S514R;ENSP00000362189:S514R;ENSP00000355040:S514R;ENSP00000362180:S514R;ENSP00000423762:S514R;ENSP00000355105:S514R;ENSP00000384758:S514R;ENSP00000298274:S514R	ENSP00000298274:S514R	S	+	3	2	PCDH11X	91019437	1.000000	0.71417	0.426000	0.26672	0.012000	0.07955	1.597000	0.36729	-0.104000	0.12154	0.544000	0.68410	AGC		0.438	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		16	36	1	0	1.3612e-06	1	1.40658e-06	16	36				
PNMA5	114824	broad.mit.edu	37	X	152159047	152159047	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:152159047G>A	ENST00000439251.1	-	2	1534	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*	PNMA5_ENST00000535214.1_Nonsense_Mutation_p.Q366*|PNMA5_ENST00000452693.1_Nonsense_Mutation_p.Q366*|PNMA5_ENST00000361887.5_Nonsense_Mutation_p.Q366*	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	366					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ACGGTGGCCTGAGGTGCAGAG	0.587																																						ENST00000439251.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1096-1098)Cag>Tag		paraneoplastic Ma antigen family member 5							82.0	71.0	74.0					X																	152159047		2203	4300	6503	SO:0001587	stop_gained	114824				apoptosis			g.chrX:152159047G>A	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.1096C>T	X.37:g.152159047G>A	ENSP00000388850:p.Gln366*					PNMA5_ENST00000361887.5_Nonsense_Mutation_p.Q366*|PNMA5_ENST00000535214.1_Nonsense_Mutation_p.Q366*|PNMA5_ENST00000452693.1_Nonsense_Mutation_p.Q366*	p.Q366*	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN			2	1534	-	Acute lymphoblastic leukemia(192;6.56e-05)		366					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Nonsense_Mutation	SNP	ENST00000439251.1	37	c.1096C>T	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	g	29.6	5.020684	0.93462	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	.	.	.	3.28	0.173	0.15036	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-5.6264	6.0155	0.19601	0.0:0.3203:0.4901:0.1896	.	.	.	.	X	366	.	ENSP00000354834:Q366X	Q	-	1	0	PNMA5	151909703	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.177000	0.16801	-0.062000	0.13088	0.287000	0.19450	CAG		0.587	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		25	97	0	0	0	1	0	25	97				
POLR2M	81488	broad.mit.edu	37	15	58001333	58001333	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr15:58001333A>G	ENST00000299638.3	+	2	749	c.535A>G	c.(535-537)Agt>Ggt	p.S179G	GCOM1_ENST00000587652.1_Missense_Mutation_p.S576G|GCOM1_ENST00000380568.3_Intron|POLR2M_ENST00000380557.4_Intron|GCOM1_ENST00000484300.1_Intron|POLR2M_ENST00000464308.1_3'UTR|GCOM1_ENST00000380569.2_Intron|POLR2M_ENST00000380563.2_Missense_Mutation_p.S179G	NM_015532.3	NP_056347.1	P0CAP2	GRL1A_HUMAN	polymerase (RNA) II (DNA directed) polypeptide M	179					maintenance of ER location (GO:0051685)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)	DNA-directed RNA polymerase activity (GO:0003899)										TCGTGTTTCAAGTCAAGCGGA	0.483																																						ENST00000299638.3																			0											c.(535-537)Agt>Ggt		polymerase (RNA) II (DNA directed) polypeptide M							62.0	57.0	59.0					15																	58001333		2192	4292	6484	SO:0001583	missense	81488							g.chr15:58001333A>G	AF326773	CCDS32252.1, CCDS42045.1	15q21.3	2013-01-21	2011-11-07	2011-11-07		ENSG00000255529		"""RNA polymerase subunits"""	14862	protein-coding gene	gene with protein product		606485	"""glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A"""	GRINL1A		16769904, 22850672	Standard	NM_015532		Approved	Gdown, Gdown1, GCOM1	uc002aev.1	P0CAP2	OTTHUMG00000166486	ENST00000299638.3:c.535A>G	15.37:g.58001333A>G	ENSP00000299638:p.Ser179Gly					GCOM1_ENST00000484300.1_Intron|GCOM1_ENST00000587652.1_Missense_Mutation_p.S576G|GCOM1_ENST00000380569.2_Intron|GCOM1_ENST00000380568.3_Intron|POLR2M_ENST00000380557.4_Intron|POLR2M_ENST00000380563.2_Missense_Mutation_p.S179G|POLR2M_ENST00000464308.1_3'UTR	p.S179G	NM_015532.3	NP_056347.1					2	749	+								Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6	Missense_Mutation	SNP	ENST00000299638.3	37	c.535A>G	CCDS32252.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.852364	0.51270	.	.	ENSG00000255529	ENST00000380563;ENST00000299638	T;T	0.32272	1.46;1.46	5.55	-5.61	0.02489	.	.	.	.	.	T	0.16727	0.0402	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.24870	-1.0148	8	0.29301	T	0.29	.	9.2414	0.37498	0.3267:0.2083:0.4649:0.0	.	179	P0CAP2	GRL1A_HUMAN	G	179	ENSP00000369937:S179G;ENSP00000299638:S179G	ENSP00000299638:S179G	S	+	1	0	GRINL1A	55788625	0.045000	0.20229	0.001000	0.08648	0.758000	0.43043	0.260000	0.18424	-1.348000	0.02205	0.482000	0.46254	AGT		0.483	POLR2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255719.2			8	35	0	0	0	1	0	8	35				
FIGF	2277	broad.mit.edu	37	X	15381434	15381434	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:15381434G>C	ENST00000297904.3	-	2	527	c.98C>G	c.(97-99)tCt>tGt	p.S33C		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	33					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TGTGGACTGAGATGATCGCTT	0.353																																						ENST00000297904.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						c.(97-99)tCt>tGt		c-fos induced growth factor (vascular endothelial growth factor D)							69.0	58.0	62.0					X																	15381434		2203	4300	6503	SO:0001583	missense	2277				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding	g.chrX:15381434G>C	AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.98C>G	X.37:g.15381434G>C	ENSP00000297904:p.Ser33Cys						p.S33C	NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN			2	527	-	Hepatocellular(33;0.183)		33					B2R7Z3	Missense_Mutation	SNP	ENST00000297904.3	37	c.98C>G	CCDS14166.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315426	0.40996	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.48	3.67	0.42095	.	0.579131	0.18249	N	0.147007	T	0.42810	0.1219	L	0.59436	1.845	0.09310	N	1	D	0.55800	0.973	B	0.43754	0.43	T	0.31336	-0.9947	9	0.62326	D	0.03	-22.0372	12.9463	0.58373	0.0:0.0:0.6887:0.3113	.	33	O43915	VEGFD_HUMAN	C	33	.	ENSP00000297904:S33C	S	-	2	0	FIGF	15291355	0.965000	0.33210	0.001000	0.08648	0.013000	0.08279	2.705000	0.47127	0.457000	0.26962	0.538000	0.68166	TCT		0.353	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1	NM_004469		5	37	0	0	0	1	0	5	37				
SCRIB	23513	broad.mit.edu	37	8	144891803	144891803	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr8:144891803G>A	ENST00000320476.3	-	14	1622	c.1616C>T	c.(1615-1617)cCg>cTg	p.P539L	SCRIB_ENST00000356994.2_Missense_Mutation_p.P539L|SCRIB_ENST00000377533.3_Missense_Mutation_p.P458L	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	539	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTCAGCCGACGGGCCCTCGGG	0.657																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1615-1617)cCg>cTg		scribbled planar cell polarity protein							59.0	58.0	58.0					8																	144891803		2203	4300	6503	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144891803G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1616C>T	8.37:g.144891803G>A	ENSP00000322938:p.Pro539Leu					SCRIB_ENST00000320476.3_Missense_Mutation_p.P539L|SCRIB_ENST00000377533.3_Missense_Mutation_p.P458L	p.P539L	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		14	1622	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		539			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.1616C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	g	8.274	0.814048	0.16537	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.76060	-0.99;-0.99;-0.99	4.32	0.849	0.18972	.	.	.	.	.	T	0.48333	0.1494	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.23297	-1.0192	9	0.11182	T	0.66	.	0.7334	0.00961	0.3464:0.1612:0.3278:0.1645	.	539;539	Q14160;Q14160-3	SCRIB_HUMAN;.	L	539;539;458	ENSP00000349486:P539L;ENSP00000322938:P539L;ENSP00000366756:P458L	ENSP00000322938:P539L	P	-	2	0	SCRIB	144963791	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.923000	0.01567	0.278000	0.22164	0.401000	0.26515	CCG		0.657	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		13	107	0	0	0	1	0	13	107				
SEC22A	26984	broad.mit.edu	37	3	122942410	122942410	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:122942410A>G	ENST00000309934.4	+	2	1083	c.187A>G	c.(187-189)Att>Gtt	p.I63V	SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000492595.1_Missense_Mutation_p.I63V|SEC22A_ENST00000481965.2_Intron	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	63	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		CTGTAGTTTTATTAGCTCTCT	0.363																																						ENST00000309934.4																			0				NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(187-189)Att>Gtt		SEC22 vesicle trafficking protein homolog A (S. cerevisiae)							132.0	134.0	133.0					3																	122942410		2203	4300	6503	SO:0001583	missense	26984				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity	g.chr3:122942410A>G	AF100749	CCDS3021.1	3q21.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000121542	ENSG00000121542			20260	protein-coding gene	gene with protein product		612442	"""SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)"""	SEC22L2		9094723, 9501016	Standard	NM_012430		Approved		uc003ege.3	Q96IW7	OTTHUMG00000159495	ENST00000309934.4:c.187A>G	3.37:g.122942410A>G	ENSP00000310521:p.Ile63Val					SEC22A_ENST00000492595.1_Missense_Mutation_p.I63V|SEC22A_ENST00000481965.2_Intron|SEC22A_ENST00000477063.1_3'UTR	p.I63V	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN		GBM - Glioblastoma multiforme(114;0.0548)	2	1083	+			63			Longin.		B2RE26|Q9Y682	Missense_Mutation	SNP	ENST00000309934.4	37	c.187A>G	CCDS3021.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.374857	0.42105	.	.	ENSG00000121542	ENST00000492595;ENST00000473494;ENST00000466519;ENST00000480631;ENST00000491366;ENST00000487572;ENST00000309934	T;T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8;1.8	4.67	4.67	0.58626	Longin (2);Longin-like (1);	0.052601	0.85682	D	0.000000	T	0.21307	0.0513	L	0.34521	1.04	0.54753	D	0.999982	B	0.18166	0.026	B	0.25614	0.062	T	0.04522	-1.0945	10	0.22706	T	0.39	-18.1542	14.2459	0.65988	1.0:0.0:0.0:0.0	.	63	Q96IW7	SC22A_HUMAN	V	63	ENSP00000417972:I63V;ENSP00000420343:I63V;ENSP00000419039:I63V;ENSP00000420574:I63V;ENSP00000417219:I63V;ENSP00000420015:I63V;ENSP00000310521:I63V	ENSP00000310521:I63V	I	+	1	0	SEC22A	124425100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.047000	0.93823	1.935000	0.56089	0.533000	0.62120	ATT		0.363	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	NM_012430		15	83	0	0	0	1	0	15	83				
GRB10	2887	broad.mit.edu	37	7	50737427	50737427	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr7:50737427C>T	ENST00000401949.1	-	7	965	c.496G>A	c.(496-498)Gca>Aca	p.A166T	GRB10_ENST00000335866.3_Missense_Mutation_p.A108T|GRB10_ENST00000402497.1_Missense_Mutation_p.A108T|GRB10_ENST00000357271.5_Missense_Mutation_p.A166T|GRB10_ENST00000407526.1_Missense_Mutation_p.A108T|GRB10_ENST00000403097.1_Missense_Mutation_p.A160T|GRB10_ENST00000402578.1_Missense_Mutation_p.A108T|GRB10_ENST00000439599.1_Missense_Mutation_p.A160T|GRB10_ENST00000398810.2_Missense_Mutation_p.A108T|GRB10_ENST00000398812.2_Missense_Mutation_p.A166T|GRB10_ENST00000406641.1_Missense_Mutation_p.A108T			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	166	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					ACCTGCTTTGCGGCGGCCTGG	0.587									Russell-Silver syndrome																													ENST00000403097.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(478-480)Gca>Aca		growth factor receptor-bound protein 10							20.0	23.0	22.0					7																	50737427		1873	4092	5965	SO:0001583	missense	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50737427C>T		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.496G>A	7.37:g.50737427C>T	ENSP00000385770:p.Ala166Thr					GRB10_ENST00000402497.1_Missense_Mutation_p.A108T|GRB10_ENST00000398812.2_Missense_Mutation_p.A166T|GRB10_ENST00000398810.2_Missense_Mutation_p.A108T|GRB10_ENST00000439599.1_Missense_Mutation_p.A160T|GRB10_ENST00000335866.3_Missense_Mutation_p.A108T|GRB10_ENST00000357271.5_Missense_Mutation_p.A166T|GRB10_ENST00000401949.1_Missense_Mutation_p.A166T|GRB10_ENST00000407526.1_Missense_Mutation_p.A108T|GRB10_ENST00000406641.1_Missense_Mutation_p.A108T|GRB10_ENST00000402578.1_Missense_Mutation_p.A108T	p.A160T			Q13322	GRB10_HUMAN			6	1258	-	Glioma(55;0.08)|all_neural(89;0.245)		166					A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	c.478G>A	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	.	14.00	2.406032	0.42715	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	T;T;T;T;T;T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	5.71	-3.46	0.04767	Ras-association (2);	0.903088	0.09819	N	0.751759	T	0.48926	0.1527	N	0.14661	0.345	0.09310	N	1	B;B;B	0.13145	0.007;0.003;0.004	B;B;B	0.10450	0.005;0.003;0.005	T	0.33214	-0.9877	10	0.13108	T	0.6	-2.1626	6.1857	0.20495	0.0:0.2538:0.3477:0.3985	.	160;166;166	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	T	166;160;108;108;108;160;108;166;108;166;108	ENSP00000381793:A166T;ENSP00000406716:A160T;ENSP00000338543:A108T;ENSP00000381790:A108T;ENSP00000385189:A108T;ENSP00000385544:A160T;ENSP00000385366:A108T;ENSP00000349818:A166T;ENSP00000385046:A108T;ENSP00000385770:A166T;ENSP00000385748:A108T	ENSP00000338543:A108T	A	-	1	0	GRB10	50704921	0.000000	0.05858	0.000000	0.03702	0.734000	0.41952	0.177000	0.16801	-0.500000	0.06614	0.655000	0.94253	GCA		0.587	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			3	32	0	0	0	1	0	3	32				
FAM150A	389658	broad.mit.edu	37	8	53452399	53452399	+	Missense_Mutation	SNP	G	G	A	rs370015105		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr8:53452399G>A	ENST00000358543.4	-	3	567	c.317C>T	c.(316-318)aCg>aTg	p.T106M	FAM150A_ENST00000523939.1_Missense_Mutation_p.T106M	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	106						extracellular region (GO:0005576)				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				ACAAGCTGGCGTTGAGCACTC	0.388																																						ENST00000358543.4																			0				lung(1)	1						c.(316-318)aCg>aTg		family with sequence similarity 150, member A		G	MET/THR	0,4406		0,0,2203	95.0	95.0	95.0		317	-3.1	0.0	8		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM150A	NM_207413.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	106/130	53452399	1,13005	2203	4300	6503	SO:0001583	missense	389658					extracellular region		g.chr8:53452399G>A		CCDS6150.1	8q11.23	2007-12-18			ENSG00000196711	ENSG00000196711			33775	protein-coding gene	gene with protein product							Standard	NM_207413		Approved	UNQ9433	uc003xrd.3	Q6UXT8	OTTHUMG00000164256	ENST00000358543.4:c.317C>T	8.37:g.53452399G>A	ENSP00000351345:p.Thr106Met					FAM150A_ENST00000523939.1_Missense_Mutation_p.T106M	p.T106M	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN			3	567	-		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)	106					B7ZMG9	Missense_Mutation	SNP	ENST00000358543.4	37	c.317C>T	CCDS6150.1	.	.	.	.	.	.	.	.	.	.	G	8.598	0.886274	0.17540	0.0	1.16E-4	ENSG00000196711	ENST00000358543;ENST00000523939	.	.	.	5.45	-3.08	0.05347	.	0.921035	0.09098	N	0.848915	T	0.27933	0.0688	L	0.40543	1.245	0.09310	N	1	P;B	0.38167	0.621;0.255	B;B	0.24155	0.051;0.024	T	0.09530	-1.0670	9	0.49607	T	0.09	.	12.9855	0.58590	0.4971:0.0:0.5029:0.0	.	106;106	B7ZMG9;Q6UXT8	.;F150A_HUMAN	M	106	.	ENSP00000351345:T106M	T	-	2	0	FAM150A	53614952	0.008000	0.16893	0.002000	0.10522	0.634000	0.38068	0.316000	0.19469	-0.521000	0.06426	0.557000	0.71058	ACG		0.388	FAM150A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377959.1	NM_207413		10	20	0	0	0	1	0	10	20				
EYA1	2138	broad.mit.edu	37	8	72184072	72184072	+	Missense_Mutation	SNP	C	C	T	rs181191349	byFrequency	TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr8:72184072C>T	ENST00000340726.3	-	10	1526	c.887G>A	c.(886-888)cGt>cAt	p.R296H	EYA1_ENST00000388741.2_Missense_Mutation_p.R262H|EYA1_ENST00000388740.3_Missense_Mutation_p.R263H|EYA1_ENST00000388742.4_Missense_Mutation_p.R296H|EYA1_ENST00000303824.7_Missense_Mutation_p.R290H|EYA1_ENST00000419131.1_Missense_Mutation_p.R291H|EYA1_ENST00000388743.2_Missense_Mutation_p.R295H	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	296					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGAACCTCGACGCAATCGATC	0.458													C|||	3	0.000599042	0.0015	0.0	5008	,	,		16425	0.001		0.0	False		,,,				2504	0.0					ENST00000340726.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44						c.(886-888)cGt>cAt		eyes absent homolog 1 (Drosophila)		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	257.0	238.0	245.0		887,887,872,788	5.7	1.0	8		245	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	EYA1	NM_000503.4,NM_172058.2,NM_172059.2,NM_172060.2	29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	296/593,296/593,291/558,263/560	72184072	1,13005	2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72184072C>T	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.887G>A	8.37:g.72184072C>T	ENSP00000342626:p.Arg296His					EYA1_ENST00000303824.7_Missense_Mutation_p.R290H|EYA1_ENST00000388741.2_Missense_Mutation_p.R262H|EYA1_ENST00000388743.2_Missense_Mutation_p.R295H|EYA1_ENST00000419131.1_Missense_Mutation_p.R291H|EYA1_ENST00000388740.3_Missense_Mutation_p.R263H|EYA1_ENST00000388742.4_Missense_Mutation_p.R296H	p.R296H	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		10	1526	-	Breast(64;0.046)		296					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.887G>A	CCDS34906.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	27.7	4.852617	0.91355	0.0	1.16E-4	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	5.7	5.7	0.88788	.	0.213479	0.49916	D	0.000126	T	0.80481	0.4631	N	0.13168	0.305	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.996;0.994;0.999;0.994	P;P;P;P;P	0.61003	0.882;0.781;0.781;0.882;0.781	T	0.78914	-0.2016	10	0.27785	T	0.31	-12.0231	19.8344	0.96650	0.0:1.0:0.0:0.0	.	290;223;263;296;291	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	H	296;296;264;263;290;262;295;291	ENSP00000373394:R296H;ENSP00000342626:R296H;ENSP00000373392:R263H;ENSP00000303221:R290H;ENSP00000373393:R262H;ENSP00000373395:R295H;ENSP00000410176:R291H	ENSP00000303221:R290H	R	-	2	0	EYA1	72346626	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.440000	0.80464	2.696000	0.92011	0.561000	0.74099	CGT		0.458	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		19	173	0	0	0	1	0	19	173				
NFKB1	4790	broad.mit.edu	37	4	103518735	103518735	+	Silent	SNP	C	C	T	rs566062917		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr4:103518735C>T	ENST00000505458.1	+	15	1828	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	NFKB1_ENST00000600343.1_Silent_p.F337F|NFKB1_ENST00000226574.4_Silent_p.F518F|NFKB1_ENST00000394820.4_Silent_p.F517F			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	517	Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|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 from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	ATGCCCTTTTCGACTACGCGG	0.498																																						ENST00000226574.4																			0				biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1552-1554)ttC>ttT		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						117.0	104.0	109.0					4																	103518735		2203	4300	6503	SO:0001819	synonymous_variant	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103518735C>T	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.1551C>T	4.37:g.103518735C>T						NFKB1_ENST00000600343.1_Silent_p.F337F|NFKB1_ENST00000394820.4_Silent_p.F517F|NFKB1_ENST00000505458.1_Silent_p.F517F	p.F518F	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	15	2021	+		Hepatocellular(203;0.217)	517			Interaction with CFLAR.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Silent	SNP	ENST00000505458.1	37	c.1554C>T	CCDS54783.1																																																																																				0.498	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			12	58	0	0	0	1	0	12	58				
PSG3	5671	broad.mit.edu	37	19	43233289	43233289	+	Missense_Mutation	SNP	G	G	A	rs550724628		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr19:43233289G>A	ENST00000327495.5	-	5	1413	c.1229C>T	c.(1228-1230)aCa>aTa	p.T410I	PSG3_ENST00000595140.1_Missense_Mutation_p.T410I	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	410	Ig-like C2-type 3.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GACTTTGACTGTCATGGATTT	0.448													.|||	1	0.000199681	0.0008	0.0	5008	,	,		20528	0.0		0.0	False		,,,				2504	0.0					ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1228-1230)aCa>aTa		pregnancy specific beta-1-glycoprotein 3							171.0	174.0	173.0					19																	43233289		2203	4300	6503	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43233289G>A		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.1229C>T	19.37:g.43233289G>A	ENSP00000332215:p.Thr410Ile					PSG3_ENST00000595140.1_Missense_Mutation_p.T410I	p.T410I	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			5	1413	-		Prostate(69;0.00682)	410			Ig-like C2-type 3.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.1229C>T	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	N	0.791	-0.758863	0.03019	.	.	ENSG00000221826	ENST00000327495	T	0.13307	2.6	1.33	-2.65	0.06095	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.11922	0.0290	L	0.56340	1.77	0.09310	N	1	B;B;B	0.19583	0.037;0.011;0.014	B;B;B	0.21360	0.034;0.02;0.03	T	0.25710	-1.0124	9	0.44086	T	0.13	.	5.7279	0.18022	0.0:0.0:0.5829:0.4171	.	334;410;410	Q08266;P11464-2;Q16557	.;.;PSG3_HUMAN	I	410	ENSP00000332215:T410I	ENSP00000332215:T410I	T	-	2	0	PSG3	47925129	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.342000	0.00505	-1.394000	0.02077	-0.859000	0.03014	ACA		0.448	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		4	155	0	0	0	1	0	4	155				
CYLC1	1538	broad.mit.edu	37	X	83128513	83128513	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:83128513G>A	ENST00000329312.4	+	4	834	c.797G>A	c.(796-798)aGg>aAg	p.R266K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	266					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GCATGGTTAAGGAATTACTCA	0.318																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(796-798)aGg>aAg		cylicin, basic protein of sperm head cytoskeleton 1							36.0	34.0	35.0					X																	83128513		2195	4290	6485	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128513G>A	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.797G>A	X.37:g.83128513G>A	ENSP00000331556:p.Arg266Lys						p.R266K	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	834	+			266					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.797G>A	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	g	0.592	-0.832682	0.02713	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.16897	2.31	4.75	1.13	0.20643	.	.	.	.	.	T	0.06917	0.0176	N	0.16790	0.44	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.41305	-0.9516	9	0.02654	T	1	0.0022	3.0939	0.06303	0.5128:0.2335:0.2536:0.0	.	266;266	P35663;F5H4V5	CYLC1_HUMAN;.	K	266	ENSP00000331556:R266K	ENSP00000331556:R266K	R	+	2	0	CYLC1	83015169	0.510000	0.26171	0.056000	0.19401	0.060000	0.15804	0.478000	0.22212	0.248000	0.21435	-0.340000	0.08031	AGG		0.318	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		6	29	0	0	0	1	0	6	29				
HTRA1	5654	broad.mit.edu	37	10	124249010	124249010	+	Silent	SNP	C	C	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr10:124249010C>A	ENST00000368984.3	+	3	773	c.645C>A	c.(643-645)atC>atA	p.I215I		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	215	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ATGGACTGATCGTGACAAATG	0.488																																						ENST00000368984.3																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17						c.(643-645)atC>atA		HtrA serine peptidase 1							184.0	166.0	172.0					10																	124249010		2203	4300	6503	SO:0001819	synonymous_variant	5654				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr10:124249010C>A	AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"""Serine peptidases / Serine peptidases"""	9476	protein-coding gene	gene with protein product		602194	"""protease, serine, 11 (IGF binding)"""	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.645C>A	10.37:g.124249010C>A							p.I215I	NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN			3	773	+		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)	215			Serine protease.		D3DRE4|Q9UNS5	Silent	SNP	ENST00000368984.3	37	c.645C>A	CCDS7630.1																																																																																				0.488	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	NM_002775		14	68	1	0	1.5842e-08	1	1.72317e-08	14	68				
ATG13	9776	broad.mit.edu	37	11	46690952	46690952	+	Splice_Site	SNP	A	A	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:46690952A>T	ENST00000434074.1	+	16	2036		c.e16-1		ATG13_ENST00000526508.1_Splice_Site|ATG13_ENST00000524625.1_Splice_Site|ATG13_ENST00000528494.1_Splice_Site|ATG13_ENST00000359513.4_Splice_Site|ATG13_ENST00000529655.1_Splice_Site|ATG13_ENST00000451945.1_Splice_Site|ATG13_ENST00000530500.1_Splice_Site|ATG13_ENST00000312040.4_Splice_Site	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13						autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						TTGTTTTTGAAGAAACCAGCT	0.433																																						ENST00000434074.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						c.e16-1		autophagy related 13							109.0	109.0	109.0					11																	46690952		2201	4299	6500	SO:0001630	splice_region_variant	9776				autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr11:46690952A>T	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.1348-1A>T	11.37:g.46690952A>T						ATG13_ENST00000359513.4_Splice_Site|ATG13_ENST00000451945.1_Splice_Site|ATG13_ENST00000528494.1_Splice_Site|ATG13_ENST00000529655.1_Splice_Site|ATG13_ENST00000312040.4_Splice_Site|ATG13_ENST00000526508.1_Splice_Site|ATG13_ENST00000524625.1_Splice_Site|ATG13_ENST00000530500.1_Splice_Site		NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN			16	2036	+								B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Splice_Site	SNP	ENST00000434074.1	37		CCDS44582.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.587337	0.86851	.	.	ENSG00000175224	ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000525009	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8852	0.63704	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATG13	46647528	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.300000	0.96151	2.172000	0.68678	0.533000	0.62120	.		0.433	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741	Intron	15	98	0	0	0	1	0	15	98				
FCRL1	115350	broad.mit.edu	37	1	157771972	157771972	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr1:157771972G>A	ENST00000368176.3	-	5	686	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	FCRL1_ENST00000358292.3_Missense_Mutation_p.R207C|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.R207C	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGGATTGGGCGAGACACCGGG	0.577																																					GBM(54;482 1003 11223 30131 35730)	ENST00000358292.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(619-621)Cgc>Tgc		Fc receptor-like 1							34.0	36.0	35.0					1																	157771972		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157771972G>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.619C>T	1.37:g.157771972G>A	ENSP00000357158:p.Arg207Cys					FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.R207C|FCRL1_ENST00000491942.1_Missense_Mutation_p.R207C	p.R207C	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	670	-	all_hematologic(112;0.0378)		207					B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.619C>T	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	G	9.989	1.230231	0.22542	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.03580	3.88;3.88;3.88	4.86	4.86	0.63082	.	0.954801	0.08728	N	0.902515	T	0.15912	0.0383	M	0.89904	3.07	0.40389	D	0.979523	P;P;D	0.89917	0.597;0.792;1.0	B;B;D	0.65773	0.119;0.221;0.938	T	0.00130	-1.2014	9	.	.	.	.	13.6674	0.62405	0.0:0.0:1.0:0.0	.	207;207;207	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	C	207	ENSP00000351039:R207C;ENSP00000357158:R207C;ENSP00000418130:R207C	.	R	-	1	0	FCRL1	156038596	0.716000	0.27956	0.602000	0.28890	0.013000	0.08279	2.096000	0.41738	2.659000	0.90383	0.655000	0.94253	CGC		0.577	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		3	44	0	0	0	1	0	3	44				
SERPINA7	6906	broad.mit.edu	37	X	105280480	105280480	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:105280480T>A	ENST00000327674.4	-	1	905	c.570A>T	c.(568-570)caA>caT	p.Q190H	SERPINA7_ENST00000372563.1_Missense_Mutation_p.Q190H|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	190					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GCTTGAGGTCTTGAATTAGAC	0.413																																						ENST00000327674.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24						c.(568-570)caA>caT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	Levothyroxine(DB00451)|Liothyronine(DB00279)						162.0	143.0	149.0					X																	105280480		2203	4300	6503	SO:0001583	missense	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105280480T>A	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.570A>T	X.37:g.105280480T>A	ENSP00000329374:p.Gln190His					SERPINA7_ENST00000372563.1_Missense_Mutation_p.Q190H	p.Q190H			P05543	THBG_HUMAN			1	905	-			190					D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	c.570A>T	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	T	2.837	-0.241402	0.05906	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.87729	-2.29;-2.29	4.7	-2.45	0.06481	Serpin domain (3);	0.495540	0.21057	N	0.080889	T	0.77491	0.4138	L	0.54965	1.715	0.09310	N	0.999993	B	0.13145	0.007	B	0.16722	0.016	T	0.63871	-0.6539	10	0.54805	T	0.06	.	0.2431	0.00195	0.2765:0.1749:0.2796:0.269	.	190	P05543	THBG_HUMAN	H	190	ENSP00000329374:Q190H;ENSP00000361644:Q190H	ENSP00000329374:Q190H	Q	-	3	2	SERPINA7	105167136	0.000000	0.05858	0.001000	0.08648	0.100000	0.18952	-0.236000	0.09003	-0.689000	0.05149	0.481000	0.45027	CAA		0.413	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		32	106	0	0	0	1	0	32	106				
PPP2R5C	5527	broad.mit.edu	37	14	102356620	102356620	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr14:102356620G>A	ENST00000334743.5	+	6	724	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	PPP2R5C_ENST00000328724.5_Missense_Mutation_p.E281K|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.E257K|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.E226K|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.E226K|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.E226K	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	226					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGAGTTACTGGAAATATTGGG	0.378																																						ENST00000422945.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(769-771)Gaa>Aaa		protein phosphatase 2, regulatory subunit B', gamma							111.0	109.0	110.0					14																	102356620		2203	4300	6503	SO:0001583	missense	5527				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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:102356620G>A	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.676G>A	14.37:g.102356620G>A	ENSP00000333905:p.Glu226Lys					PPP2R5C_ENST00000350249.3_Missense_Mutation_p.E226K|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.E226K|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.E226K|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.E281K|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.E226K	p.E257K	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN			8	865	+			226					B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	37	c.769G>A	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396018	0.96009	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334756;ENST00000557621;ENST00000445439;ENST00000334743;ENST00000557095;ENST00000557716	T;T;T;T;T	0.56103	0.49;0.48;0.48;0.54;0.51	5.2	5.2	0.72013	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83413	0.5249	H	0.98089	4.145	0.80722	D	1	D;D;D;D;D;D	0.76494	0.998;0.998;0.997;0.998;0.997;0.999	P;D;D;P;D;D	0.74023	0.796;0.92;0.934;0.871;0.926;0.982	D	0.89804	0.3977	10	0.87932	D	0	-22.0335	19.1348	0.93422	0.0:0.0:1.0:0.0	.	257;124;226;226;226;281	F5GWP3;E9PHN5;Q13362-3;Q13362;Q13362-2;Q6ZN33	.;.;.;2A5G_HUMAN;.;.	K	257;281;255;226;124;195;226;226;226;22	ENSP00000412324:E257K;ENSP00000329009:E281K;ENSP00000450931:E255K;ENSP00000262239:E226K;ENSP00000333905:E226K	ENSP00000329009:E281K	E	+	1	0	PPP2R5C	101426373	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.781000	0.99029	2.588000	0.87417	0.650000	0.86243	GAA		0.378	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		5	43	0	0	0	1	0	5	43				
SERTM1	400120	broad.mit.edu	37	13	37269387	37269387	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr13:37269387C>T	ENST00000315190.3	+	2	618	c.172C>T	c.(172-174)Ctt>Ttt	p.L58F		NM_203451.2	NP_982276.2	A2A2V5	SRTM1_HUMAN	serine-rich and transmembrane domain containing 1	58						integral component of membrane (GO:0016021)											TCTGCTTCTGCTTTTAATCAT	0.483																																						ENST00000315190.3																			0											c.(172-174)Ctt>Ttt		serine-rich and transmembrane domain containing 1							229.0	203.0	212.0					13																	37269387		2203	4300	6503	SO:0001583	missense	400120					integral to membrane		g.chr13:37269387C>T		CCDS9358.1	13q13.3	2011-08-10	2011-08-10	2011-08-09	ENSG00000180440	ENSG00000180440			33792	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 36"""	C13orf36			Standard	NM_203451		Approved		uc001uvt.4	A2A2V5	OTTHUMG00000016735	ENST00000315190.3:c.172C>T	13.37:g.37269387C>T	ENSP00000325776:p.Leu58Phe						p.L58F	NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN			2	618	+			58					Q8N469	Missense_Mutation	SNP	ENST00000315190.3	37	c.172C>T	CCDS9358.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.161562	0.57368	.	.	ENSG00000180440	ENST00000315190	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	N	0.19112	0.55	0.49299	D	0.999776	D	0.69078	0.997	D	0.80764	0.994	T	0.61043	-0.7142	9	0.87932	D	0	-15.0007	11.226	0.48884	0.0:0.9162:0.0:0.0838	.	58	A2A2V5	SRTM1_HUMAN	F	58	.	ENSP00000325776:L58F	L	+	1	0	SERTM1	36167387	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	3.510000	0.53393	2.402000	0.81655	0.563000	0.77884	CTT		0.483	SERTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044518.2	NM_203451		11	105	0	0	0	1	0	11	105				
EIF2S2	8894	broad.mit.edu	37	20	32685276	32685276	+	Silent	SNP	A	A	G			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr20:32685276A>G	ENST00000374980.2	-	5	701	c.480T>C	c.(478-480)agT>agC	p.S160S		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	160					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						CTGTCTGATTACTGAATGAGA	0.408																																						ENST00000374980.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						c.(478-480)agT>agC		eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa							115.0	103.0	107.0					20																	32685276		2203	4297	6500	SO:0001819	synonymous_variant	8894					cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity	g.chr20:32685276A>G	M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	3266	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 67"""	603908	"""eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"""	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.480T>C	20.37:g.32685276A>G							p.S160S	NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN			5	701	-			160					Q9BVU0|Q9UJE4	Silent	SNP	ENST00000374980.2	37	c.480T>C	CCDS13231.1																																																																																				0.408	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078765.2	NM_003908		8	33	0	0	0	1	0	8	33				
DAG1	1605	broad.mit.edu	37	3	49570261	49570261	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:49570261delA	ENST00000539901.1	+	3	2875	c.2317delA	c.(2317-2319)atcfs	p.I773fs	DAG1_ENST00000308775.2_Frame_Shift_Del_p.I773fs|DAG1_ENST00000538711.1_Frame_Shift_Del_p.I773fs|DAG1_ENST00000545947.1_Frame_Shift_Del_p.I773fs|DAG1_ENST00000541308.1_Frame_Shift_Del_p.I773fs|DAG1_ENST00000515359.2_Frame_Shift_Del_p.I773fs	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	773					basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CATTGCCATGATCTGCTACCG	0.557																																						ENST00000545947.1																			0				NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23						c.(2317-2319)tcfs		dystroglycan 1 (dystrophin-associated glycoprotein 1)							61.0	48.0	52.0					3																	49570261		2203	4300	6503	SO:0001589	frameshift_variant	1605				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	g.chr3:49570261delA	L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.2317delA	3.37:g.49570261delA	ENSP00000439334:p.Ile773fs					DAG1_ENST00000541308.1_Frame_Shift_Del_p.I773fs|DAG1_ENST00000539901.1_Frame_Shift_Del_p.I773fs|DAG1_ENST00000515359.2_Frame_Shift_Del_p.I773fs|DAG1_ENST00000538711.1_Frame_Shift_Del_p.I773fs|DAG1_ENST00000308775.2_Frame_Shift_Del_p.I773fs	p.I773fs	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	6	3039	+			773					A8K6M7|Q969J9	Frame_Shift_Del	DEL	ENST00000539901.1	37	c.2317delA	CCDS2799.1																																																																																				0.557	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			8	22						8	22	---	---	---	---
RGL2	5863	broad.mit.edu	37	6	33260029	33260030	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr6:33260029_33260030insA	ENST00000497454.1	-	18	2678_2679	c.2183_2184insT	c.(2182-2184)ttcfs	p.F728fs	PFDN6_ENST00000463584.1_Intron|WDR46_ENST00000374617.4_5'Flank|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	728	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GCCGCAGGAGGAAATCGTGTGA	0.579																																						ENST00000497454.1																			0				breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						c.(2182-2184)tctfs		ral guanine nucleotide dissociation stimulator-like 2																																				SO:0001589	frameshift_variant	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33260029_33260030insA		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.2184dupT	6.37:g.33260032_33260032dupA	ENSP00000420211:p.Phe728fs					RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	p.S728fs	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN			18	2678_2679	-			728			Ras-associating.		B4DG72|Q5STK0|Q9Y3F3	Frame_Shift_Ins	INS	ENST00000497454.1	37	c.2183_2184insT	CCDS4774.1																																																																																				0.579	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			24	75						24	75	---	---	---	---
ETV1	2115	broad.mit.edu	37	7	14017092	14017092	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr7:14017092delG	ENST00000430479.1	-	6	862	c.195delC	c.(193-195)gacfs	p.D65fs	ETV1_ENST00000399357.3_Frame_Shift_Del_p.D25fs|ETV1_ENST00000405358.4_Frame_Shift_Del_p.D79fs|ETV1_ENST00000405192.2_Frame_Shift_Del_p.D65fs|ETV1_ENST00000343495.5_Intron|ETV1_ENST00000403685.1_Intron|ETV1_ENST00000420159.2_Intron|ETV1_ENST00000242066.5_Intron|ETV1_ENST00000405218.2_Frame_Shift_Del_p.D65fs|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403527.1_Frame_Shift_Del_p.D25fs	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	65					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCTCATCATTGTCAGGTACCT	0.338			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	ENST00000430479.1				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""		"""Ewing sarcoma, prostate"""	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(193-195)gafs		ets variant 1							82.0	74.0	77.0					7																	14017092		1758	3918	5676	SO:0001589	frameshift_variant	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:14017092delG		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.195delC	7.37:g.14017092delG	ENSP00000405327:p.Asp65fs					ETV1_ENST00000405192.2_Frame_Shift_Del_p.D65fs|ETV1_ENST00000403685.1_Intron|ETV1_ENST00000405218.2_Frame_Shift_Del_p.D65fs|ETV1_ENST00000403527.1_Frame_Shift_Del_p.D25fs|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000242066.5_Intron|ETV1_ENST00000399357.3_Frame_Shift_Del_p.D25fs|ETV1_ENST00000405358.4_Frame_Shift_Del_p.D79fs|ETV1_ENST00000420159.2_Intron|ETV1_ENST00000343495.5_Intron	p.D65fs	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN			6	862	-			65					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Frame_Shift_Del	DEL	ENST00000430479.1	37	c.195delC	CCDS55088.1																																																																																				0.338	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		2	4						2	4	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971207	21971207	+	Splice_Site	DEL	C	C	-			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr9:21971207delC	ENST00000304494.5	-	2	421	c.151delG	c.(151-153)gtc>tc	p.V51fs	CDKN2A_ENST00000530628.2_Splice_Site_p.G65fs|CDKN2A_ENST00000498124.1_Splice_Site_p.V51fs|CDKN2A_ENST00000579122.1_Splice_Site_p.V51fs|CDKN2A_ENST00000479692.2_5'UTR|CDKN2A_ENST00000361570.3_Splice_Site_p.G106fs|CDKN2A_ENST00000498628.2_5'UTR|CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000446177.1_Splice_Site_p.V51fs|CDKN2A_ENST00000497750.1_5'UTR|CDKN2A_ENST00000579755.1_Splice_Site_p.G65fs|CDKN2A_ENST00000494262.1_5'UTR|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	51					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(48)|p.V51I(2)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		ATCATCATGACCTGCCAGAGA	0.667		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1		17																	1367	Whole gene deletion(1316)|Unknown(48)|Substitution - Missense(2)|Deletion - In frame(1)	p.0?(1315)|p.?(48)|p.V51I(2)|p.0(1)|p.V28_V51del(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(145)|urinary_tract(92)|bone(74)|soft_tissue(57)|pleura(51)|oesophagus(50)|upper_aerodigestive_tract(50)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM065063	CDKN2A	M		c.e2-1		cyclin-dependent kinase inhibitor 2A							8.0	9.0	8.0					9																	21971207		2070	4138	6208	SO:0001630	splice_region_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971207delC	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.151-1G>-	9.37:g.21971207delC		HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000446177.1_Splice_Site_p.V51_splice|CDKN2A_ENST00000579122.1_Splice_Site_p.V51_splice|CDKN2A_ENST00000361570.3_Splice_Site_p.G106_splice|CDKN2A_ENST00000479692.2_5'UTR|CDKN2A_ENST00000497750.1_5'UTR|CDKN2A_ENST00000494262.1_5'UTR|CDKN2A_ENST00000498124.1_Splice_Site_p.V51_splice|CDKN2A_ENST00000304494.5_Splice_Site_p.V51_splice|CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000530628.2_Splice_Site_p.G65_splice|CDKN2A_ENST00000498628.2_5'UTR|RP11-145E5.5_ENST00000404796.2_Intron	p.G65_splice			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	486	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	82					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Splice_Site	DEL	ENST00000304494.5	37	c.193_splice	CCDS6510.1																																																																																				0.667	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077	Frame_Shift_Del	11	23						11	23	---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29751233	29751234	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr10:29751233_29751234insC	ENST00000355867.4	-	36	7126_7127	c.6374_6375insG	c.(6373-6375)agafs	p.R2125fs	PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Frame_Shift_Ins_p.R1039fs|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375400.3_Frame_Shift_Ins_p.R1699fs|SVIL_ENST00000375398.2_Frame_Shift_Ins_p.R2125fs|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000446807.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2125					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CGATGTCCTCTCTGTGCTCCCA	0.51																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(6373-6375)agafs		supervillin																																				SO:0001589	frameshift_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29751233_29751234insC	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6375dupG	10.37:g.29751234_29751234dupC	ENSP00000348128:p.Arg2125fs					SVIL_ENST00000375400.3_Frame_Shift_Ins_p.R1699fs|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000355867.4_Frame_Shift_Ins_p.R2125fs|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000535393.1_Frame_Shift_Ins_p.R1039fs|PTCHD3P1_ENST00000445521.1_RNA	p.R2125fs			O95425	SVIL_HUMAN			38	6823_6824	-		Breast(68;0.103)	2125					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Frame_Shift_Ins	INS	ENST00000355867.4	37	c.6374_6375insG	CCDS7164.1																																																																																				0.510	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			13	83						13	83	---	---	---	---
ARHGDIA	396	broad.mit.edu	37	17	79827748	79827749	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr17:79827748_79827749insC	ENST00000269321.7	-	2	193_194	c.58_59insG	c.(58-60)gagfs	p.E20fs	RP11-498C9.3_ENST00000576554.1_RNA|ARHGDIA_ENST00000582520.1_5'Flank|ARHGDIA_ENST00000541078.2_Frame_Shift_Ins_p.E20fs|ARHGDIA_ENST00000581876.1_Frame_Shift_Ins_p.E20fs|ARHGDIA_ENST00000584461.1_Frame_Shift_Ins_p.E20fs|ARHGDIA_ENST00000580685.1_Frame_Shift_Ins_p.E20fs|RP11-498C9.3_ENST00000576021.1_RNA|ARHGDIA_ENST00000400721.4_Frame_Shift_Ins_p.E20fs	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	20					cellular component movement (GO:0006928)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of axonogenesis (GO:0050772)|regulation of axonogenesis (GO:0050770)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GTGCTCATCCTCCTCGTTCTCC	0.624																																						ENST00000269321.7																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(58-60)ggafs		Rho GDP dissociation inhibitor (GDI) alpha																																				SO:0001589	frameshift_variant	396				anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity	g.chr17:79827748_79827749insC	BC028333	CCDS11788.1, CCDS58609.1	17q25.3	2005-12-20				ENSG00000141522			678	protein-coding gene	gene with protein product		601925		GDIA1		9186513	Standard	NM_001185077		Approved	RHOGDI	uc002kbq.3	P52565		ENST00000269321.7:c.59dupG	17.37:g.79827750_79827750dupC	ENSP00000269321:p.Glu20fs					ARHGDIA_ENST00000584461.1_Frame_Shift_Ins_p.G20fs|ARHGDIA_ENST00000580685.1_Frame_Shift_Ins_p.G20fs|ARHGDIA_ENST00000581876.1_Frame_Shift_Ins_p.G20fs|ARHGDIA_ENST00000541078.2_Frame_Shift_Ins_p.G20fs|ARHGDIA_ENST00000400721.4_Frame_Shift_Ins_p.G20fs	p.G20fs	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		2	193_194	-	all_neural(118;0.0878)|Ovarian(332;0.12)		20					A8MXW0|B2R5X1|B4DDD3|B4DUV9|Q6IBM5	Frame_Shift_Ins	INS	ENST00000269321.7	37	c.58_59insG	CCDS11788.1																																																																																				0.624	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441679.2	NM_004309		23	54						23	54	---	---	---	---
